Tingnan ang lahat ng mga set ng pag-aaral

ABC MFM Oral Board Review High Yield Topics

Pataasin ang iyong marka sa homework at exams ngayon gamit ang Quizwiz!

Recurrent pregnancy loss: Physical exam findings

(+/-) hirsutism (+/-) Galactorrhea (+/-) Cervical laceration (+/-) Uterine malformation

When do RBC antigens appear in pregnancy?

38 days (=5w3d)

HIV testing in pregnancy: policy

3rd trimester HIV testing: - In facility w/ 1/1000 HIV(+) pregnant women pe ryear; incarcerated - Sings/symptoms of infection (fever, +LN, rash, myalgias, ulcers of the mouth, leukopenia, etc) - Personal or partner IV drug use; prostitution - New partner, more than one partner during pregnancy, known infected or high-risk HVI partners

List a DDx for hypoxemia

4 most likely causes in a pregnant woman: - Asthma - Pneumonia - Pulmonary edema (cardiogenic or noncardiogenic) - Pulmonary embolism

Power analysis components

4 variables: 1) Alpha (preset) 2) Beta (preset) 3) Sample size (usually solving for n) 4) Effect size (established from literature)

Umbilical artery Doppler

40% of fetal CO goes to placenta Placenta is a low resistance vascular bed UA carries blood toward the placenta Impedance decreases w/ gestation

Prader-Willi Syndrome

"Prader no father" Results from maternal uniparental disomy (2 maternal genes, absent paternal genes)

Cystic fibrosis

> 1700 mutations in the CFTR gene Different mutations assoc w/ varying severity of disease - Specific genotype - phenotype correlations - Some mutations do not cause CF (chronic pancreatitis, male infertility with congenital absence of vas deferens) Carrier frequency in norther European: 1:25 - Most common mutation deltaF508 Carrier freq in Ashkenazi Jewish 1:24 - W128x is most common mutation causing classic CF in this group. Clinical presentations of CF: - Respiratory: pulm disease - Exocrine: Pancreas, malabsorption - GI: meconium ilesus (20% newborns) - Liver: disease, focal biliary cirrhosis - Fertility: male azospermia. Most women are fertile

receiver operating characteristic (ROC) curve

A Receiver Operating Characteristic (ROC) Curve is a way to compare diagnostic tests. It is a plot of the true positive rate against the false positive rate Sensitivity = true positive rate (want to be high) <> Sens = Y axis 1- specificity = 1 minus the true negative rate = false positive rate, want LOW <> False positive rate = X axis When asked a question recommend drawing a X and Y axis to visualize. You want the most upper left on the graph to have the largest area under the curve. GOAL is for highest sensitivity (true positives, the y-axis) and lowest false positives (100-sp, the x-axis) So, the x-axis - False positive rate = 1 - specificity (aka 1 - the true negative rate) The y axis - True positive rate = sensitivity Picture: Method 4 has the highest sensitivity and specificity

Explaining Errors

A Type I error occurs when I show that there is a difference in my sutdy when in reality there is not ("False positive") - Alpha typically set at 5% (ie p-value of 0.05), meaning I accept a 5% chance of finding an effect when one does not exist (that is a 5% chance my results are due to chance) A Type II error occurs when I show thre is no difference in my study when in reality there is ("False negative) - When no difference if found, I need to know if my study had adequate power. - Because Power = 1 - beta (an beta is aka Type II error) <> If the type II error is 10% then the statistical power is 90% <> if the type II error is 20% then statistical power is 80% - Beta (20%) + poster (80%) = 100% - Type II error (20%) + statistical power (80%) = 100%

Wilcoxon Rank Sum / Mann-Whitney U

A Wilcoxon Rank Sum or Mann-Whitney U test is used to determined if the MEDIANS of 2 groups are different. - Counterpart to the t-test for NONPARAMETRIC data (not normally distributed) - Accounts for outliers Wilcoxon: Paired (like-test): The observations come from the same subject at 2 different times. Mann Whitney: Unpaired (like Student t-test): compares medians from two different subjects

High or total spinal

A circulatory as well as a respiratory emergency. Ventilate first and don't panic Put mask on face and assist ventilation Assume accompanying hypotension. Give ephedrine or neo as you reach for mask Check BP, but all that really matters is ventilation and a good pulse. Ventilation trumps intubation. Ventilation even trumps aspiration. (usually do not have to intubate) Respiratory paralysis usually does not last long (5-15 minutes)

Trinucleotide expansion repeat: CVS vs Amnio - is one preferred

Amniocentesis is preferred. Methylation testing is not reliable on CVS(placental) samples

CMV: Fetal diagnosis

Amniotic fluid PCV (21w or greater) Confirmation of fetal infection does NOT predict severity of infection or outcomes.

Polygenic inheritance

An additive effect of two or more genes on a single phenotypic character.

Azoosperima

Azoospermia 15% men with infertility Azoospermia factors on Y-chromosome Y-inheritance pattern - all males are affected.

Chorionic villus sampling (CVS): transvaginal contraindications

Cervical stenosis Vaginal infection Active herpes infection Low-lying myoma

D/c cholesterol medication D/c Plavix and transition to LMWH Continue ASA81 adn add 1mg folic acid daily Continued f/u w/ Neurology (carotid scans) Ensure the ECHO has been done to evaluate for maternal PFO Counsel on low saturated fat diet Growth assessments and antenatal testing due to AMA and thrombophilia on anticoagulation ***Can consider Plavix use if recommended by Neurology Continue anticoagulation 6 weeks postpartum

Case 18y G1 at 17w5d presents to the office for platelets of 66. What is your DDx? What is your initial workup for this patient?

DDx: - Gestational thrombocytopenia - Preeclampsia] - Platelet clumping - ITP - SLE - APLS - TTP/HUS - Infectious (HIV, HepC) - Medication exposure Work-up: - H&P (BP, splenomegaly) - Review medications - BP - Viral serologies - CBC blood smear will assess for pancytopenia and the smear can rule out clumping as low platelets could be pseudo-thrombocytopenia. I do not routinely perform assays for platelet associated antibodies ro antiplatelet antibodies as they are non-specific and vary by labs. GT and ITP are not differentiated based on this testing. - If medical disorders nd drugs are ruled out, the pt likely has GT or ITP. I generally say that if seen in 1st trimester, not likely to be GT. If numbers below 100k, likely ITP. If <50K, almost certainly ITP - If sudden 3rd tri onset, i would think preeclampsia, TTP, HUS, AFLP or DIC, but ITP can do this as well.

Case 27Y G1 at 22w is referred for a platelet count of 75. Remaining CBC is normal. What is your DDx? What is your initial workup for this patient?

Fetal growth restriction: Who gets diagnostic testing?

Early onset FGR (<32w) Sonographic abnormalities Polyhydramnios (FGR +Poly = Trisomy 18)

Ectrodactyly

Ectrodactyly Autosomal dominant condition

Campomelic dysplasia

Greek campo (bent) melic (pertaining to the limb) Characterized: - Symmetric femoral and tibia bowing - Overlying skin dimples at birth - Flat midface - Micrognathia - Hypoplastic rectangular scapula - Ambiguous genitalia - 11 pairs of ribs Clinical considerations: - SOX9 mutation - TF for type II collagen and testis-determining gene downstream of SRY: involved in production o fanti-Mullerian Hormone (sex refersal 75% male) Prognosis: 90% infants die shortly after birth or within a few years secondary to pulmonary insufficiency

Case 22y G1 presents to your office at 14w. She was referred by her primary OB for a positive hep B screen The patient is from Thailand an reports being jaundice as a child. She denies any history of blood transfusions and has no symptoms. What is your inital workup?

H&P Hepatitis panel Hepatitis B panel Assess liver function

Case 24y G1 presents to your clinic w/ a positive HIV screening test. She is currently 14w pregnancy. What is you initial workup and plan of management?

H&P Pregnancy Outcomes with HIV (Williams OB 24th ed) - Maternal HIV infection has also been associated with fetal-growth restriction, preeclampsia, and preterm membrane rupture Initial Evaluation (Williams OB 24th ed) - Standard prenatal laboratory surveys that include serum creatinine, hemogram, and bacteriuria screening - Plasma HIV RNA quantification—"viral load," CD4+ T-lymphocyte count, and antiretroviral resistance testing - Serum hepatic aminotransferase levels - HSV-1 and -2, cytomegalovirus, toxoplasmosis, and hepatitis C serology screening - Baseline chest radiograph - Tuberculosis skin testing—purified protein derivative (PPD) or interferon-gamma release assay - Evaluation of need for pneumococcal, hepatitis B, hepatitis A, Tdap, and influenza vaccines - Sonographic evaluation to establish gestational age. Serial Laboratory Assessment (Williams OB 24th ed) - CD4+ T-lymphocyte count, HIV RNA viral load measurement, complete blood count, and liver function tests are done 4 weeks after beginning or changing therapy to assess response and exclude toxicity. Thereafter, HIV RNA viral loads are measured monthly until RNA levels are undetectable. CD4 T-lymphocyte and HIV RNA levels can then be measured every trimester. Indications of Antibiotic Prophylaxis (Williams OB 24th ed) - If the CD4+ T-cell count is < 200/mm3, primary prophylaxis for Pneumocystis jiroveci (formerly P carinii) pneumonia is recommended with sulfamethoxazole-trimethoprim or dapsone. PPROM in the setting of HIV - Although an increased risk of perinatal transmission has been associated with membrane rupture in the past, recent analyses in the setting of combination antiviral therapy have not found this to be a risk factor with an HIV viral load < 1000 copies/mL (Cotter AM, Brookfield KF, Duthely LM, et al: Duration of membrane rupture and risk of perinatal transmission of HIV-1 in the era of combination antiretroviral therapy. Am J Obstet Gynecol 207:482.e1, 2012) Route of Delivery - HIV RNA viral load > 1000 copies/mL then cesarean section. - HIV RNA viral load < 1000 copies/mL then vaginal delivery preferred. Intrapartum Antiretroviral Therapy (Williams OB 24th Ed) - Zidovudineis given intravenously during labor and delivery to women with an HIV RNA viral load > 400 copies/mL or who have an unknown viral load near delivery (Panel on Treatment of HIV-Infected Pregnant Women and Prevention of Perinatal Transmission, 2012). A 2 mg/kg load is infused over 1 hour followed by zidovudine 1 mg/kg/hr until delivery. Vertical Transmission Risk (Williams OB 24th ed) - Maternal HAART treatment along with intrapartum zidovudine prophylaxis has dramatically reduced the perinatal HIV transmission risk from approximately 25% to 2% or less. Breastfeeding (Williams OB 24th ed) - Vertical transmission is increased by breast feeding, and it generally is not recommended for HIV-positive women in the United States.

How can you assess the effectiveness of tissue perfusion when treating a septic patient?

Keeping MAP > 65mmHg Serial serum lactate values that decrease over time (hours).

Randomized controlled trial design

Identify your cases Identify your controls Describe your intervention Describe what outcomes are being compared Statistical study used depends on type of variables/outcomes

Autosomal dominant disorders

Male to male transmission excludes x-linked disorders

What is the most common mechanism for chromosomal aneuploidy?

Meiotic nondisjunction in Meoisis 1

Risk of diagnostic prenatal genetic testing:

Metanalysis of 18 controlled studies with>1000 procedures each (Akolekar et al. Ultrasound Obstet Gynecol 2014): Amniocentesis: - Weighte dpooled procedure-related risk: 0.11% CVS: - Weighted pooled procedure-related risk: 0.22%

Septo-optic dysplasia

Mild form of lobar holoprosencephaly * absent septum pellucidum and optic nerve hypoplasia Assoc w/ hypothalamic dysfunctin Hypopituitarism 75% Developmental delay 71%

Nonhemolytic transfusion reactions: Review

Febrile reaction - Occurs in 1% of red cell or platelet transfusions - Develops w/in 6 hours of transfusion - Due to cytokine release from leukocytes <> Leukoreduction reduces likelihood <> 85% of units in US are leukoreduced <> Premedication with acetaminophen and diphenhydramine (if leukoreduced unit used), not supported by available evidence - Benign (exclude acute hemolytic reaction)

Case: 20 y G1 presents at 20w w/ limited prenatal care. She has been taking valproic acid for the past 4 years. No seizure activity until 2 weeks ago (grand mal witnessed by her mother). How do you counsel the patient?

Fetal abnormalities: : menigomyelocele, clefting, VSD Genetic counseling: offer QUAD, explain msAFP importance Detailed anatomic US Fetal echocardiogram Choose more appropriate AED, goal is monotherapy at lowest appropriate dose Vitamin K PO considered in last month of pregnancy in on phenobarbital, carbamazepine, phenytoin, topiramate, oxcarbazepine

Alloimmunization: Mangaement

If fetus at risk or unknown - If Ab titer below critical value (16), follow monthly titers - If critical titer (1/16), serial MCA Dopplers every 1-2 weeks starting at 16 weeks until delivery

What is the associated risk of pregnancy for WHO class 2-3 lesions?

Moderate increase in maternal morbidity and mortality risk.

Who are candidates for IV iron therapy in prengancy?

Moderate or severe iron deficiency anemia Failed 2 week trial of oral iron therapy Any anemia w/ risk of bleeding - Previa - Placental accreta spectrum - Abruption

Systemic review

More than just a "lit search" Preferably use more than one database (have to publish search details about at least one) Contact authors for more details How to account for publication bias? How were studies chosen for inclusion/exclusion?

Von Willebrand Disease Type I

Most common (70%) Autosomal dominant Quantitative deficiency of von Willebrand factor Clinically see mild to moderately severe bleeding symptoms No increases in maternal or fetal mortality in pregnancy Increase risk for hemorrhage vWF levels increase in 2nd and 3rd trimester (2-3x baseline) and so often vWF patients can normalize their levels near end of pregnancy; this does not help to predict hemorrhage risk (vWF levels decrease at different rates postpartum typical to see hemorrhage 10-20 days postpartum). Desmopressin or vWF replacement therapy may be required at or after labor or even in the first 2-4 weeks postpartum depends on levels.

What is the DDx for echogenic bowel?

Most common DDx: - Idiopathic - Intraamniotic bleeding - fetal cystic fibrosis - Fetal aneuploidy (eg, T21, T18, T13) - Congenital infection (eg, CMV, toxoplasmosis, viruses) - Primary GI pathology (eg, obstruction, atresia, perforation).

What is the risk of placenta accreta spectrum disorder based on cesarean section?

Placenta previa is associated with an increased risk of placenta accreta. This risk is quoted as 3%, 11%, 40%, 61%, 67% for first, second, third, forth and fifth cesarean deliveries respectively. Placenta accreta was present in 15 (0.24%), 49 (0.31%), 36 (0.57%), 31 (2.13%), 6 (2.33%), and 6 (6.74%) women undergoing their first, second, third, fourth, fifth, and sixth or more cesarean deliveries, respectively The number of cesarean sections have been associated with an increased risk of placenta accreta. In the absence of placenta previa the risks remains less than 1% until the fourth cesarean section (2.13%).

Placenta accreta spectrum: Management

Planned cesarean hysterectomy 34-35w Maximize Hgb (via iron) preop Multidisciplinary approach: - Anesthesia consultation - Urology (stents) Prepare for intraoperative hemorrhage - cell saver - MTP Central lines Antenatal corticosteroids

Peripartum cardiomyopathy: Management

Principles: - Reduce cardiac preload - Reduce cardiac afterload - Improve contractility <> B-blockers reduce myocardial oxygen requirement; try preload and afterload reduction 1st Practical management: - Control BP w/ vasodilators (Goal <110mmHg) <> Hydralazine 25-100 mg up to qid <> Amlodipine 5-10 mg/d <> Long-acting nitroglycerin 40mg q day - Postpartum: ACE inhibitor, ie enalpril 5mg BID - Preload reduction <> Lasix 20-40mg daily (Use carefully in undelivered patients) - Inotropic therapy <> Digoxin 0.25-0.5mg q day (goal serum level 1-2) - B-blocker therapy <> Metoprolol 12.5-100 mg qd (goal HR 80-100) <> Carvedilol 3.125-25 mg bid

What history would suggest an underlying genetic cause of recurrent pregnancy loss?

Repetitive 1st trimester loss Anembryonic pregnancies FHx of congenital malformations or mental retardation (X-linked condition) AMA

acute respiratory distress syndrome (ARDS): diagnosis 4 components

Respiratory symptoms w/in 1 weeks of inciting event Bilateral opacities (pulm edema) on CXR or CT Resp failure not due to cardiac failure of fluid overload. Moderate to severe oxygenation impairment according to P/F ratio (<300) ===================================================== P/F ratio determines degree of intrapulmonary shunt (PaO2/FiO2) x 100 = P/F ratio Normal person: (100mmHg/21%) x 100 = 476 In ARDS the P/F ratio is <300, indicating severe difficulty delivery oxygen - Mild ARDS: P/F 200-300 w/ PEEP or CPAP ≥5mmHg - Moderate ARDS: P/F 100-200 w/ PEEP ≥5mmHg - Severe ARDS: P/F ≤100 w/ PEEP ≥5mmHg Higher numbers reflect better oxygenation

What is a case control study?

Retrospective ONLY Disease/outcome defined from beginning (start with DISEASE/OUTCOME) - Groups should be the same except for disease/outcome Group 1: with disease/outcome Group 2: without disease/outcome Look back at exposures to see if there is a difference in exposures Reported as Odds Ratios (OR) *** You start with what is rare when designing a study, If the outcome is rare then you perform a Case-Control***

Design a study to determine if gestational diabetes and fetal macrosomia are increased with steroid use in pregnancy.

Retrospective cohort study You cannot do a case-control study with more than one outcome.

Randomized Controlled Trial (RCT)

Randomization - Blocks? Permuted blocks? - Who does it? How is ti released? Centralized randomization? Envelopes? - All have pros and cons w/ respect to reducing tampering w/ randomization Blinding - Singe blind? Double blind? What about safety? Trial design - Parallel? Crossover? Sample size - Losses to follow-up? Bias Make sure to register with clinicaltrials.gov or other site CONSORT checklist

What ratios can help when evaluating skeletal dysplasias?

Ratios: <> FL/Foot length: <1 suggests SD <> FL/AC <0.16: suggests lethality <> Chest circum/AC: <0.7 suggests lethality <> Cardiac circum / Chest Circum: >0.5

What is an ROC curve?

Receiver Operating Characteristic. ROC curves plot the classifier's recall against its fall-out. Unlike accuracy, the ROC curve is insensitive to data sets with unbalanced class proportions; unlike precision and recall, the ROC curve illustrates the classifier's performance for all values of the discrimination threshold.

Reduced penetrance

Thalassemia

Reduced synthesis of globin chains => microcytic anemia Classified according to globin chain affected Management: Keep Hgb 10g/dL, monitor fetal growth as increased risk of IUGR an oligohydramnios Most common are alpha and beta

Chi Square and Fisher's Exact

Relationship between to categorical variables Looks for a difference between the observed effect and the expected effect. Fisher's exact is same thing when expected or observed frequency is small (<5)

Perimortem cesarean delivery: When to perform

Relieves aortocaval obstruction Improves ability to perform effective CPR Improves chances of maternal survival Improves neonatal outcomes Does not worse maternal outcomes

Direct Coombs test

The direct Coombs' test is used to detect idiopathic hemolytic anemia by detecting the presence of autoantibodies against the client's RBCs.

Lactate: significance

The higher the lactate level the worse the perfusion.

What are some scenarios in which you would not place a cerclage?

The major contraindications are clinical scenarios where the procedure is unlikely to reduce the risk of preterm delivery or improve fetal outcome: - fetal anomaly incompatible with life - intrauterine infection - active bleeding - active preterm labor - preterm prelabor rupture of membranes (PPROM) - fetal demise.

What does AUC of 0.75 mean?

The translates to a grade of C: the test performs fair It means the test has a 75% ability to distinguish between the 2 groups

Type I and Type II erros

Type I error: - I show that there is a difference in my study when in reality there is not "false positive." - Typical is to tolerate a 5% type I error, that is results having a 5% probability (or a 1 in 20 chance) of occurring by chance). Type II error: - I show there is no difference in my study when in reality there is one ("False Negative") - When do difference is found, I need to know if my study had adequate power - If the type II error is 10% then the statistical power is 90% If the type II error is 20% then the statistical power is 80% - Typical is a goal of at least 80% statistical power, meaning an 80% probability of showing a difference if indeed the hypothesis is true, so accepting a type II error of 20%. - Power = 1 - beta - Beta (20%) + Statistical Power (80%) = 100%

Crohn's disease

Type of inflammatory bowel disease Caused by environmental and genetic factor; risk of child having can be 2-5% can see a chromosomal link Recommend women to plan pregnancies when they are generally in remission. Important to stop smoking Treatment: Medical treatment of IBD in pregnancy: Aminosalicylates (eg. Sulfasalazine or mesalamine), are usually considered first-line therapies in pregnancy. Corticosteroids are also appropriate is necessary. Medications which are probably safe but have limited data include azathioprine, 6-mercaptopurine, cyclosporine, metronidazole, anti-tumor necrosis factors drugs and loperamide. Methotrexate and thalidomide are avoided in pregnancy.

Alpha

Typically set at 0.05 Type 1 error Likelihood of finding a difference when none exists False positive Reasons for Type 1 error: - Chance - Bias If the p-value is 0.04, what does this mean? [] The likelihood that your results are due to chance are 4%. the likelihood of finding a difference when not exists is 4%

Beta value

Typically set at 0.2 Power = 1 - beta (0.2) - translates to 80% power Type 2 error Failing to find a difference when one exists - False negative Reasons for Type 2 error: - Small sample size - Miscalculated effect size What happens to sample size if you change Beta to 0.1? - You will need a larger sample size

Congenital syphilis

US Findings *** Hepatomegaly and placentomegal

Alobar holoprosencephaly

US Findings: - 1st tri: absent butterfly sign - choroid "butteryfly wings" - 2nd/3rd tri: fused thalami with monoventrilce - Absent midline structure (CSP, falx, 3rd vent, CC) - Facial anomalies (cyclopia, cebocepahly, ethmocephaly, facial clefts) DDx - Aneuploidy - Holoprosencephaly - Hydrancephaly (no falx, no cerebral tissue, normal face) - Adqueductal stenosis (falx seen, thinned cortex, dilated 3rd ventricle, thalami not fused) Evaluation: - Detailed US - Genetic testing: CVS or amniocentesis (microarray) - chromosomal abn 35-50% (T13) - Assoc w/ multiple syndromes <> Smith Lemli-Opitz <> Meckel Gruber <> Aicardi/Fryns, Velocardiofacial <> Infants of diabetic moms 1% risk Clinical considerations: - Offer termination - In-utero demise and stillbirth are common - Death 50% <50 months, 80% <1yr - Surviviors - Poor prognosis <> Hypotonia, feeding difficulties, seizures Semilobar Holoprosencephaly - Absent CSP - Fused frontal lobes - Thalami partially fused - Microcephaly Lobar Holoprosencepahly - Absent CSP - Microcephaly - Fused fornicies - Thalami separate

Urachal cyst / anomaly

US Findings: - Anterior midline fluid collection between bladder and umbilical cord insertion - May extend into base of umbilical cord forming allantoic cyst - Needs to connect to bladder DDx: - LUTO - Omphalocele - Other abdominal cysts (ovarian, enteric duplication, mesenteric, meconium pseudocyst) Evaluation: - Detailed (level II) US - US Doppler to look for cord compression - Pediatric surgery consultation

Echogenic bowel

US Findings: - Echogenic bowel = bright as bone - Minimize false positives: <> Make dx w/ 3.5-5 MHz transducer (turn off harmonics) <> High frequency probe can cause false positive <> Turn down the gain as low as possible - EB should NOT disappear. DDx: - Idiopathic (normal variant) - Genetic syndromes (T21, T18, T13) - Infections - Cystic fibrosis - Hemorrhage (swallowed blood) - Meconium peritonitis - Fetal growth restriction Evaluation: - Detailed (level II) US - Genetic counseling - Genetic testing (amnio, CMV) - Serial US Clinical considerations: - Up to 2% of population - Review is pt has CF screening - Review if pt had aneuploidy screening - Review if h/o prior bleeding -

Pelvic kidney

US Findings: - Empty renal fossa w/ ipsilateral pelvic kidney - Adrenal gland fills empty renal fossa - "lying down" appearance - Color Doppler to find renal artery - No contralateral compensatory renal hypertrophy DDx: - Unilatral renal agenesis - Horseshoe kidney - Pelvic mass Evaluation: - Detailed US - Genetics referral with considerations for genetic testing - Consult Pediatric Urology Clinical considerations: - Typically, incidental, up tto 37% of unilateral empty renal fossa have a pelvic kidney - 1:713 live births - Possible complications: Vesicoureteral reflux, infection, renal stones, reno-vascular hypertension

Meta-analysis

Who abstracted data? Duplicated? Which variables chosen? Bias? Confounders? measures of consistency? Use PRISMA guidelines for publication

Case 20Y G1 at 28w presents to your office with symptomatic colitis. What is your workup? What is your DDx?

Workup: I woudl r/o clostridium difficile colitis. If i suspect a relapse, colonoscopy is not necessarily warranted. I can order a colonoscopy or flexible sigmoidoscopy in pregnancy if necessary DDx: Infectious colitis, diverticulitis, ischemic colitis, rectal ulcer, NSAID related colitis.

Who do you screen for fragile X syndrome?

X-linked dominant ACOG and ACMGG recommend that with a family history of: - Relative with intellectual disability (w/ or w/o autism spectrum, ADD/ADHD, seizures) - Personal/family history of early menopause/POI - Personal history or relative (male or female) with intention tremor and progressive cerebellar ataxia Population-based carrier screening is not currently recommended. Prenatal diagnosis -- Amniocentesis preferred (due to methylation testing)

X-linked recessive: pedigree

X-linked recessive

Fragile X syndrome: Key points

X-linked recessive CGG repeats FMR1 gene Normal: 5-50 Premutation: 50-<200 Mutation: >200 Premutation - Ataxia syndrome and premature ovarian failure

Who would you counsel a patient with Ornithine Transcarbamylase Deficiency (OTC)?

X-linked recessive Metabolic disorder of the urea cycle Dx: amino acid disorder Management: - Hyperammonemia crisis - Chronic management - Labor management -- Fluids 10% dextrose 2x maintenance

Ductus venosus waveform

a-wave = right ventricle filling during atrial contraction

Cytomegalovirus (CMV)

as pregnancy advances infection rate increases As pregnancy advances the severity of infection decreases

Oxygen-Hemoglobin dissociation curve

describes the percentage of hemoglobin saturated with oxygen at any given PO2

Kleinhauer-Betke Test

determines volume of fetal hemorrhage - maternal blood smear treated with acid then stained with counterstain. Fetal cells remain pink

Alloimmunization: cfDNA RhD testing

send after 10wks gestation

Fetal growth restriction (FGR)

symmetric vs asymmetric is an antiquated term SGA is a neonatal term

Pruritic urticarial papules and plaques of pregnancy (PUPPP)

aka Polymorphic eruption of pregnancy (PEP) Linear IgM of pregnancy Most common dermatosis of pregnancy, 3/4 nulliparous, more common in multiple gestation Symptoms: [] Erythematous papules in striae, periumbilical SPARING, lesions spread and form plaques, face/palms/soles SPARED, can see white halos around lesions, pruritic; often stars late 3rd trimester, can get pp, worsens after delivery, resolves 15d pp Diagnosis: Biopsy not needed Etiology: Unknown. Stretching may damage connective tissue and then expose antigens that trigger inflammatory response or maybe immune response to circulating fetal antigens Treatment: Low-mild topical steroids OR non-sedating po antihistamines, may need IV steroids (prednisone 0.5 mg/kg/d) Outcome: No fetal/maternal morbidity, uncommon recurrence in pregnancy or w/ OCP use, see more w/ male fetuses

Mitochondrial inheritance

all children effected by mother

Angelman Syndrome

angleMAN Paternal uniparental disomy (2 paternal genes, maternal genes absent)

Hardy-Weinberg equation

p^2 + 2pq + q^2 = 1

Penetrance vs Expressivity

penetrance- probability of gene being expressed if present, it's either expressed or not expressivity- how much genotype is expressed as phenotype, incomplete dominance, the extent to which penetrance happens

What is the differential diagnosis for an increased nuchal translucency?

plus normal variant

Alloimmunization: Key steps

1) Antibody titers 2) Paternal antigen testing 3) Fetal antigen testing 4) MCA Doppler 5) PUBS-FIT

Robertsonian translocations are associated with what 5 chromosomes?

13 14 15 21 22

How would you counsel a patient interested in cfDNA who carries a diagnosis of cancer?

- Concern that active cancer has aneuploidy - cfDNA results with multiple aneuploidies ca be cancer and may note be as reliable - Consider integrated screen vs cfDNA w/ caveat

What are the 5 WHO categories for pulmonary hypertension?

* Note Pulm ARTERY HTN is Class 1

Anticoagulation options for mechanical heart valves in pregnancy

** Note the week 12 mark!

Fetal growth restriction (FGR): Management

*** CMV PCR if amnio performed

Case A 35Y G2P1 at 32w presents with the diagnosis of Sepsis with pyelonephritis The patient received 4L IV fluids, ampicillin plus gentamycin are infusion. The nurse calls to report her VS: BP 92/52, P128, RR 22, T 39 C, Sat 92% EFM cat 2 w/ baseline tachycardia and moderate variability w/ occasional decals What are your next steps?

*** Review the VS *** - Volume is low, therefore, the HR has increased - CO = Stroke volume x Heart rate What are your next steps? - Repeat lactate level - Assess volume status - Asses urine output

What are the risks of pregnancy loss in patients with congenital uterine anomalies? - Septate - Unicornuate - Bicornuate - Didephys - Arcuate

*** surgery is not usually treatment (exception septate uterus)

When determining what type of study to design; what is important related to outcomes and exposures when considering case-control vs cohort studies?

***A case-control can look at more than one EXPOSURE, but cannot have more than one OUTCOME!!!) ***A cohort study can have more than one OUTCOME but cannot do more than one EXPOSURE

What is a P/F ratio?

***Note a normal P/F ratio*** *** Need and ABG to calculate*** P = PaO2 (mmHg) F - fraction of inspired O2 (%)

MCA PSV Technique

***Note take highest of three

CMV: US findings

**Periventricular calcifications (classic)

Normal ABG in pregnancy

*NOTE* Asthma pts retain CO2

What is your indication to transfuse a patient?

*do not use Hgb

Blood component therapy: Review

*single unit is 50mL *six pack is 300mL

In the contest of substance abuse, what are some Brief Interventions you can pursue?

- A multi-disciplinary approach including medical, developmental, and social services is warranted - Vaccinate for Hep B if indicated (ie. HBsAg negative) - State requirements - Screen for depression - Screen for use of other drugs - Screen for hepatitis, HIV, and STI - Discuss contraception - Neonates must be watched for NAS - 1st trimester US: for dating, 2nd trimester anatomy - As needed consultation w/ anesthesia, addition specialists, pediatrics, nutrition, social services, neonatology.

Case 26Y G3P2002 at 12w presents to triage with RUQ pain that began 2 hours after a large meal. She rates her pain 9/10 that radiates to her back. She is diagnosed with acute cholecystitis and improves with a low fat diet. She returns at 30w and reports that she is following a low-fact diet strictly, however, she reports terrible RUQ pain. Vitals show a low grade fever and maternal HR of 110. Labs: AST 76, ALT 109, amylase 500, lipase 700, WBC 15k. Gallstone pancreatitis is diagnosed. What is your plan of management at this time?

- Admit - NPO - IV fluids - Pain medication - Possible MRCP (if US not helpful). Avoid ERCP unless necessary or felt could be therapeutic. - Antibiotics - Consult GI and general surgery Treatment options - supportive measures - ERCP and shincterotomy - Biliary stent - Cholecystectomy

A 22y G1 presents for her anatomy US at 20w. The referring OB intake form states 'drug use'. You notice that she appears anxious and is shaking. You perform screening and have concerns for substance abuse. In further questioning, she admits to use of heroin and was interested in stopping but did not know how. Her drug screen verifies this and is negative for all other drugs. You order all appropriate labs. What is your next step in management?

- As I have already peformed Screening, I will now perform a brief intervention and referral to Treatment. - For all patients, I perform Screening, Brief Intervention, Referral to Treatment

Peripartum cardiomyopathy: Key avoids

- Avoid hypertension - Avoid fluid overload - Avoid increasing cardiac demand

Mechanical heart valves in pregnancy: Key avoids

- Avoid warfarin (coumadin) after 6 weeks - Avoid under-anticoagulating - Avoid waiting too long to restart anticoagulation postpartum (4-6 hours) - Avoid coumadin alone postpartum (bridge with UFH or LMWH until therapeutic)

Case: 20 y G1 presents at 24w w/ limited prenatal care. She reports a history of epilepsy and being started on Keppra (levetiracetam) at the age of 16. She reports it didn't work well and that she has been onlamictal (lamotrigine) for the last 2 years w/ no seizure activity until 2 weeks ago (grand mal witnessed by her mother). What is your plan of management at this time?

- Encourage adequate hydration/sleep - Verify dose of lamictal and increase dose - Assess lamictal level (therapeutic 4-28 mcg/mL) - Refer to Neurology - Discuss that she is not to drive - Detailed anatomic US - Fetal echocardiogram

Fetal Growth Restriction: SMFM Consult Series summary

- FGR = EFW or AC <10th percentile - Recommend the use of population-based fetal growth references (such as Hadlock) in determining fetal weight percentiles - Do not use LMWH to prevent FGR (sole indication) - Do not use sildenafil or activity restriction to tx FGR - Detailed OB US exam (CPT code 76811) with early-onset FGR (<32w) since up to 20% of cases are associated with fetal or chromosomal abnormalities. - Offer fetal diagnostic testing, including chromosomal microarray analysis (CMA), when FGR is detected and a fetal malformation, polyhydramnios, or both are also present, regardless of GA. - Offer prenatal diagnostic testing with CMA when unexplained isolated FHR is diagnosed < 32w. - Do not test for toxo, rubella or HSV in the absence of other risk factors and recommend PCR for CMV in women with unexplained FHR who elect diagnostic testing with amniocentesis - Surveillance: umbilical artery Doppler every 1 to 2 weeks to assess for deterioration. - Umb art Doppler 1x/w with elevated Pi(>95th%), EFW <3rd percentile - We recommend Doppler assessment up to 2 to 3 times per week when umbilical artery absent end-diastolic velocity (AEDV) is detected due to the potential for deterioration and development of reversed end-diastolic velocity (REDV). - In the setting of REDV, we recommend hospitalization, administration of antenatal corticosteroids, heightened surveillance with cardiotocography (CTG) at least 1 to 2 times per day, and considerations of delivery depending on the entire clinical picture and results of additional evaluation of fetal well-being. - We suggest against the use of Doppler assessment of the ductus venosus, middle cerebral artery, or uterine artery for routine clinical management of early- or late-onset FGR. - We recommend weekly CTG testing after viability for FGR without A/REDV, and that frequency be increased when FHR is complicated by A/REDV or other comorbidities or risk factors. - FGR and elevated SD, RI, PI (>95th%ile) or EFW <3rd%ile regardless of Dopplers: delivery at 37w - FGR and AEDF: delivery 33-34w - FGR and REDV: delivery 30-32w - FGR 3rd-10th%ile and normal Dopplers: delivery 38-39w - PI = (peak systolic velocity - minimal diastolic velocity) / (mean velocity) - Consider CS if FGR with A/REDV - Antenatal corticosteroids if delivery is <33w6d OR between 34w0d and 36w6d in steroid naiive with not prior history of steroids - MgSO4 < 32 weeks of gestation in whom delivery is likely.

Case: 26Y G1 presents at 30w1d with complaints of leaking clear fluid. What is your workup

- H&P - SSE and AVOID SVE as this can incrase infection. I am evaluating for cervicitis, cord prolapse, fetal parts, dilation/effacement, collect cultures and to asseess for pooling - I can perform a nitrazine test to assess the pH of pooling noted, as amniotic fluid is more basice 7-7.3 (vaginal secretions in teh vagina 3.8-4.2); i am aware that I cans see a false positive from blood, semen, soap, BV or a false negative if ruptured fora long time an dnot much fluid. - I can assess for fernig (arborizatio) with fluid from fornix (must let dry for 10 min) - Amnisure can detect placental alpha microglubulin-1 protein (drom decidua of placenta): sterile swab in vagina x1min; some tests with high false positive rates of up to 30%. These are considered ancillary. - Indigo carmine: 1 mL in 9ML of NS injected vis US guidance; remove tampon 1/2h later; will turns mom's urine blue too. - fFN is Sn but not specific, and if negative strongly supports intact membranes, yet positive results are not diagnostic.

- HIV - Hepatitis panel - CMP - CBC - Gonorrhea/Chlamydia screening - Pap smear - RPR - Possibly screen for TB - Discuss if heroin was IV or inhaled and consider ECHO if warranted.

How do you properly measure the cervical length?

- I ensure the pts bladder is empty, verify the prove has been properly cleaned and has a probe cover - The prove is then inserted into the vagina, guided toward the anterior fornix - I then obtain a sagittal view of the entire cervix. The prove within be removed slightly, until the image appears blurred, and then reinsert until the image clears, focusing on not placing too much pressure on the cervix - The image of the cervix should take up two thirds of the screen. Within this view the internal and external os must be visualized. - Measurement will be performed along the endocervical canal, between the internal and the external os. - This measurement will be repeated for a total of 3 cervical length assessments, and the shortest measurement will be reported. - If the cervix is curved, 2 more linear measurements are performed and the values are added together. I would not trace the cervical length. - Application of mild suprapubic or fundal pressure should be applied for appox 15 seconds to evaluate for an funneling. While there is pressure begin applied, i would reduce the prove pressure. 3 measurements are taken and again the shortest is the most accurate. - Total time of the exam should be 3-5 minutes -CLEAR certification

Case: 23Y G2P0010 (prior 1st trimester SAB) presented for an anatomy US to your office at 20w. Normal fetal anatomy is noted. On routine vaginal cervical screening her cervical length is noted to be 1.1cm w/ funneling. The patient inquires about a cerclage, as she heard it is the best treatment for women with a short cervix. How do you respond?

- I would assess her cervix (SSE/SVE) - I would then review with her the indications for cerclage (see picture) - If she does not meet any of the above criteria, i would inform her she is not a cerclage candidate

Case: A 23y G2P0101 presented for an anatomy US at 19w. It is her 1st prenatal visit. He prior delivery was at 27w due to preterm labor. Normal fetal anatomy is noted. On routine transvaginal cervical screening her cervical length is noted to be 1.1cm w/ funneling. You place a cerclage at 19w6d. If this patient had presented to your office as a preconception visit after her first delivery (that is, she is a G1P0101), how would you counsel her about management in a future pregnancy?

- I would discuss serial cervical length assessments, starting at 16 weeks, continuing until approximately 24 weeks - I would offer her 17OHP, weekly, to begin at 16020w and to continue until 36w - If a cervical length less than 2.5cm was noted prior to 24w, I would discuss cerclage placement.

- I would review her OB and GYN history in detail - I would assess her cervix (SSE/SVE) - I would then review the indications for cerclage (see picture) - As she meets criteria (3) for cerclage, I woudl offer her a cerclage - 17OHP, weekly (prefer to starte 16-20w)

Case: A 23y G2P0101 presented for an anatomy US at 19w. It is her 1st prenatal visit. He prior delivery was at 27w due to preterm labor. Normal fetal anatomy is noted. On routine transvaginal cervical screening her cervical length is noted to be 1.1cm w/ funneling. You place a cerclage at 19w6d. Would your counseling be different if she presented as a preconception visit after her 2nd pregnancy (that is, she had a 27w PTD followed by a pregnancy that showed a short cervix at 19w requiring a cerclage, ultimately delivery at term)?

- I would still offer her 17OHP, but I would discuss a history-indicated cerclage with her.

Describe the antenatal late preterm steroids (ALPS) trial

- In women w/ a singleton pregnancy between 34w0d to 36w6d who are at risk for PTD in the next 7 days, WHO HAVE NOT RECIEVED STEROIDS PRIOR, I will consider administration of betamethasone 12mg IM x2 dosese, 24 hours apart - In those w/ PPROM, I can administer betamethasone and wait for IOL until the steroid course is completed, I would not administer tocolytics during that time. - I do not administer betamethasone after 34w in women who have previously received betamethasone in the pregnancy. - I will not delay an indicated delivery after 34w to administer late preterm steroids

What type of test should be used when you are comparing the birthweight of babies born to mothers age 20-25, 26-30, 31-35, 36-40, 41-45?

- Interval value, more than two groups, likely normally distributed (parametric), independet - ANOVA

What type of test should be used when you are comparing the birthweight of babies both to those positive for Hepatitis B virus versus those negative for Hepatitis B

- Interval value, two groups, likley normally distributed (parametric), independent - Unpaired t-test

Bronchopulmonary sequestration (BPS)

- Lung tissue that doesn't connect to BP tree or vessels - 90% left-sided and supradiaphragmatic, 10-15% subdiaphragm - Feeding vessel from aorta - Sporadic in most cases DDx: - CPAM - Hybrid lesion (CPAM + BPS) - Teratoma - Neuroblastoma (subdiaphram) Evalaution - Sporadic in most cases - Consider genteic counseling - Consider amniocentesis with microarray - Serial USs. to monitor for hydrops - Excellent prognosis if isolated (50-75% regress in utero)

Case 26Y G1 presents at 30w1d with complaints of leaking clear fluid. Rupture membranes are confirmed. How do you counsel the patient about her risks? What is your plan of treatment?

- Maternal infection, postparutm infection, preterm labor, placental abruption, cord prolapse, non-reassuring FHR _ Higher risks at lower gestation of PPROM - Approx 1/2 of PPROm delivery w/in 1 week - Neonatal risks of PTD: RDS, sepsis, IVH, NEC; higher risks at earlier GA of PPROM, but does not support immediate delivery after PPROM. ------------------------- - Collect GBS - Consult NICU - CEFM (initially) then change to NST q12h (once able) - Maintain IV - Latency antibotics <> Ampicillin 2g IV q6H x 48h => Amoxicillin 500mg po q 8h x 5d (targets GBS, aerobic gram negateiv bacilli, some anaerobes) <> Azithromycin 1gram po x1 (targets mycoplasmas) - Antenatal corticosteroids -

How do you perform a power analysis?

- Need to perform a power analysis (4 component) (alpha, beta, sample size, effect size) - You are always solving for one of the four variables - Alpha is preset at 0.05 - Beta is preset at 0.2 (therefore power = 0.8) - Sample size: trying to solve for - Effect size: find from literature (if there is no number in the literature, you are not starting with a RCT). "ex "I would expect to see a 20% decrease"

You want to assess the relationship between a protein associated w/ preeclampsia. Out of the 500 women tested, 100 had preeclampsia and the test was positive in 90 of them. Of those without preeclampsia, the test was positive in 40. Determine the following: - Sensitivity - Specificity - PPV - NPV

- Sensitivity: 90 / 90+10 = 90/100 = 90% - Specificity: 360 / 360+40 = 360/400 = 90% - PPV: 90/90+40 = 90/130 = 69.2% - NPV: 360/360+10 = 360/370 = 97.2%

Case 24y G1 with HIV. She presents at 35w and wants to know what her plan is for labor and delivery. How do you counsel her?

- She should continue her cART throughout labor - Avoid AROM, placement of FSE, and operative vaginal delivery - VL dictates route of delivery (see below) - Zidovudine (see below) - Baby immediately washed after delivery - Shecueld delivery at 38w0d if VL >1000 Route of Delivery - HIV RNA viral load > 1000 copies/mL then cesarean section. - HIV RNA viral load < 1000 copies/mL then vaginal delivery preferred. Intrapartum Antiretroviral Therapy (Williams OB 24th Ed) - Zidovudine is given intravenously during labor and delivery to women with an HIV RNA viral load > 400 copies/mL or who have an unknown viral load near delivery (Panel on Treatment of HIV-Infected Pregnant Women and Prevention of Perinatal Transmission, 2012). A 2 mg/kg load is infused over 1 hour followed by zidovudine 1 mg/kg/hr until delivery. Intrapartum and Postpartum management of persons with HIV (SMFM Checklist 2020) Labor or Preoperatively for Cesarean - Treat with zidovudine (ZDV) for at least 3 hours prior to delivery [1-hour intravenous loading dose (2 mg/dk), followed by continuous infusion over 2 hoursl (1 mg/kg/hr) until delivery] if viral load =1000 copies/mL (treatment can be considered if viral load is < 1000 copies/mL - Avoid scalp electrodes or internal fetal monitors - Ensure appropriate staff personal protective equipment is available and warn by all staff - Continue cART regimen Immediately After Delivery - Establish pathway for neonatal treatment within 12 hours of delivery - Avoid use of methergine or other ergotamines with protease inhibitors or cobicistat to avoid exaggerated vasoconstrictive responses. - Continue cART regimen Postpartum - Support formula feeding - Support neonatal follow-up medications and testing plan - Ensure reliable contraception with condoms - Discuss PrEP - Continue cART regimen - Ensure cervical cytology (Pap test) and HPV screening are up to date; refer to colposcopy if needed. - Ensure transition to long-term follow-up with Infectious disease specialist - Ensure transition to long-term follow-up with primary care provider

- There is insufficient data to perform continued cervical length screening as there are no other interventions available. However, If there is continued shortening of the cervix, particularly if <10mm, I could counsel the patient of a higher risk of PRB. For this reason, I would consideration further monitoring on a case by case basis. - SMFM recommends AGAINST routine cervical length screening for women w/ cerclage, multiples, PPROM, or previa.

Case A 25Y G2P1 at 33w states that her 'chonic back pain" is unbearable What is you plan of management?

- We discuss exercise, physical therapy and stretching exercises I offer her use of Tylenol, not to exceed 3500 mg in 24h - I give her info regarding a "belly band" - We discuss use of cool/warm compress - We discuss behavioral changes (medication, reading, decreasing stressors) - I schedule a follow-up to assess her discomfort - I avoid the use of narcotics.

Thrombophilias - What are the 2 most prevalent thrombophilia's in the general population? - What are the 2 most common thrombophilia's associated with all VTEs? What are the 3 most thrombogenic thrombophilia's in pregnancy?

- What are the 2 most prevalent thrombophilia's in the general population? <> FVL heterozygote (up to 15%) <> Prothrombin 20210A heterozygote (2-5%) - What are the 2 most common thrombophilia's associated with all VTEs? <>FVL heterozygote (40% of all VTEs) <> Prothrombin 20210A heterozygote (17% of all VTEs) What are the 3 most thrombogenic thrombophilia's in pregnancy? <> ATIII deficinecy (40% risk per pregnancy) <> FVL/Prothrombin G20210A double heterozygote (>20% risk per prengancy) <> FVL or Prothrombin homozygote (17% risk per pregnancy)

Statistics: T-test

- compares mean values of a continuous variable (dependent) between 2 categories/groups, ex. comparing mean of a group to a specific value. Can also compare means of 2 groups. o Two-tailed = possibility of relationship in both directions, one-tailed = one direction. A paired t-test (also known as a dependent or correlated t-test) is a statistical test that compares the averages/means and standard deviations of two related groups to determine if there is a significant difference between the two groups. ● A significant difference occurs when the differences between groups are unlikely to be due to sampling error or chance. ● The groups can be related by being the same group of people, the same item, or being subjected to the same conditions. Paired t-tests are considered more powerful than unpaired t-tests because using the same participants or item eliminates variation between the samples that could be caused by anything other than what's being tested. An unpaired t-test (also known as an independent t-test) is a statistical procedure that compares the averages/means of two independent or unrelated groups to determine if there is a significant difference between the two. The key differences between a paired and unpaired t-test are summarized below. A paired t-test is designed to compare the means of the same group or item under two separate scenarios. An unpaired t-test compares the means of two independent or unrelated groups. In an unpaired t-test, the variance between groups is assumed to be equal. In a paired t-test, the variance is not assumed to be equal.

What are the initial steps in management once sepsis in suspected?

1 hour bundle for sepsis (4 components) - Volume resuscitation (IV hydration) - Initiate antibiotics - Obtain culture - Obtain serum lactate level

How to answer an US question on oral boards (5 steps)

1) Describe images 2) Top DDx 3) Any additional evalautions (diagnositcs/genetics) 4) Clinical issues/counseling 5) Any consultants

Trinucleotide expansion conditions: Key concepts

1) Each gene in questions has its how inheritance pattern. 2) The number of repeats then dictates the symptoms of the condition. The longer the repeats the more unstable the gene and leads to silencing of the gene. The larger the expansion -> faster onset -> more severe condition

How do you design RCT for the following question? Does diet coke intake cause short cervix?

1) Identify outcome and exposures Exposure: Diet coke Outcome: Short cervix (in RCT you will randomize people to the exposure) 2) What is your intervention Cases: Diet coke (daily) Controls: Water 3) Exclusion criteria - H/o preterm labor - h/o short cervix - H/o cervical surgery - Twins - Smokers - Drink sodas*** (make to address exposure and outcome) 4) When will you enroll your patients - Enroll at prenatal intake 5) What are you comparing between the two groups (make it simple) - CL <25mm 5) What statistic would you use? - Nominal data (yes or no) - Independent - two groups - Chi-square 6) How many patients will you need to enroll? - Need to perform a power analysis (4 component) (alpha, beta, sample size, effect size) - You are always solving for one of the four variables - Alpha is preset at 0.05 - Beta is preset at 0.2 (therefore power = 0.8) - Sample size: trying to solve for - Effect size: find from literature (if there is no number in the literature, you are not starting with a RCT).

How do you design a study for the following questions? Is hyperemesis gravidarum associated with increased risk for PTB and macrosomia?

1) Identify outcome and exposures Exposure: Hyperemesis gravidarum Outcome: Preterm birth AND macrosomia ( ***A case-control can look at more than one EXPOSURE, but cannot have more than one OUTCOME!!!) ***A cohort study can have more than one OUTCOME but cannot do more than one EXPOSURE *** A randomized controlled trial could be performed.

How do you design RCT for the following question? Does yoga in pregnancy decrease CS risk?

1) Identify outcome and exposures Exposure: Yoga Outcome: cesarean (in RCT you will randomize people to the exposure) 2) What is your intervention Cases: Pts who do yoga Controls: No yoga 3) Exclusion criteria Physical limitations Prior cesarean delivery Twins Previa 4) When will you enroll your patients - Enroll at prenatal intake 5) What are you comparing between the two groups (make it simple) - CS (yes/no) or %pts w/ CS 5) What statistic would you use? - Nominal (yes or no) - 2 groups - Independent - Chi square

How do you design case-control study for the following questions? Is baby aspirin intake associated w/ peripartum cardiomyopathy?

1) Identify outcome and exposures Outcome: Cardiomyopathy Exposure: Aspirin 2) Identify cases and controls: Cases: Peripartum cardiomyopathy Controls: No peripartum cardiomyopathy With a case-control study you always start with your outcome/disease/condition 3) Is the prospective or retrospective? Retrospective 4) What is the specific variable we are looking at? Percentage of pts exposed to baby aspirin in EACH GROUP! You are comparing the same thing 5) What statistic are you using for this study? Odds ratio: Cannot use relative risk bc you do not know the prevalence of the disease. If you don't know prevalence you cannot use relative risk. You don't know that bc you are "cherry-picking" the cases (PPCM pts). We are NOT taking a population and seeing who gets PPCM. 6) Explain what and OR of 0.6 (CI 0.9 - 2.2) OR is 40% less risk for those exposed to aspirin CI indicates 95% of the time the OR will fall between these two numbers, therefore, that the measurement is not very precise 7) Besides OR what is another way to compare the percentages? Chi-square test: will give you a p value which tells you if this is significant to not

How do you design RCT for the following question? Are gummy bears vitamins associated with increase risk of obesity?

1) Identify outcome and exposures Outcome: Obesity BMI 30 or greater Exposure: No vitamins or regular vitamins or placebo (you are writing the rules) 2) Exclusion criteria - BMI >30 - Exclude other risk factors for obesity (Diabetes, twins, late entry to care) 3) When to enroll? - prenatal intake 1st trimester 4) What are you comparing (make it simple) - Total weight gain or BMI at delivery in BOTH groups (not obese vs non-obese) 5) What statistic would you use? - Nominal (yes or no) - 2 groups - Independent - Chi square

How do you design a case-control study for the following questions? Is postpartum psychosis more common in obese patients?

1) Identify outcome and exposures Outcome: Postpartum psychosis Exposure: obesity BMI 30 or greater (NOT obesity vs non-obesity) 2) Identify cases and controls: Cases: Postpartum psychosis Controls: No postpartum psychosis With a case-control study you always start with your outcome/disease/condition 3) Is the prospective or retrospective? Retrospective 4) What is the specific variable we are looking at? Percentage of pts who have BMI of 30 or greater in EACH GROUP! You are comparing the same thing. KEY CONCEPT (NOT obesity vs non-obesity) 5) What statistic are you using for this study? Odds ratio: Cannot use relative risk bc you do not know the prevalence of the disease. If you don't know prevalence you cannot use relative risk. You don't know that bc you are "cherry-picking" the cases (PP psychosis pts). We are NOT taking a population and seeing who gets PP psychosis. 6) Explain what and OR of 0.7 (CI 0.1 - 0.9) OR is 30% less risk for those with a BMI 30 or greater CI indicates 95% of the time the OR will fall between these two numbers (0.1-0.9), therefore, that the measurement is not very precise. 7) Besides OR what is another way to compare the percentages? Chi-square test: will give you a p value which tells you if this is significant to not. Chi square p0.02 means that the observed number of patients that were obese was statistically significantly different than the number of people who did not get psychotic that were pregnant and obese. 8) What statistic would we use if we wanted to use mean weight at birth? Not using an interval value instead of a yes or no value These are normallty distributed, independent and continuous variables Therefore, unpaired (stUdent) t test We are looking at weights form two different people (hence, unpaired) If we were looking at the weight of the same patient from two different pregnancies (which would be a paired test) 9) If the data was not normally distributed what statistic would you use? Not normally distributed = Non parametric You care comparing Medians NOT Means if it is not normally distributed. Two groups Independent Ordinal data Man-Whitney Ran Sum (MWU for Medians) 10) What if you wanted to compare percent of obesity in each group, what statistic would you use? Nominal Proportion Independent 2 groups Chi-square (If you had too few patients in one of the arms you would then use Fischers-exact)

What causes Protein S deficinecy? Give two causes

1) Mutation 2) Silenced gene

Questions to ask when looking at a Pedigree? (3 Ps)

1) Who is affected? Males vs Females 2) Are there affected people in every generation vs one generations? 3) Who is passing to who (Male to male transmission) 3Ps - People - Position - Patterns

What are the three possible explanations for a cfDNA result: Mosaicism 46, XX/45, XO

1. Fetus with mosaic monosomy X 2. Mother with mosaic monosomy X 3. Placental mosaic only with monosomy X 4. Vanishing twin

Interpreting an ABG in 6 steps

1. Is the pH normal? <7.38 = acidotic >7.42 = alkalemic 2. CO2: acidic or alkalotic? <35 mmHg = alkalotic >45 mmHg = acidic 3. HCO3-: acidic or alkalotic? <22 mmHg = Acidic; >36 = Alkalotic 4. Match CO2 or the HCO3- with the pH Acidotic: pH, CO2 = respiratory alkalosis Alkalotic: pH, HCO3- = Metabolic alkalosis 5. Does the CO2 or the HCO3- go the opposite direction of the pH? CO2 Opposite (Respiratory Opposite): pH acidotic, CO2 alkalotic = Primary respiratory acidosis HCO3- Same (Metabolic Equal) pH acidotic + HCO3- acidosis = Primary metabolic acidosis *ROME (Respiratory Opposite vs Metabolic Equal) 6. Are the pO2 and the O2 saturation normal? <80 mmHg = Hypoxic; >80 mmHg = Not hypoxic

Criteria for a screening test (6)

1. Simplicity 2. Acceptability 3. Accuracy 4. Cost 5. Precision or repeatability 6. Sensitivity

Where is McBurny's point?

1/3 of the way from the umbilicus to the anterior superior iliac spine (lateral)

When do you transition from PTU to methimazole during pregnancy?

16 weeks

What is the difference between 1st and 2nd degree fetal heart block?

1st degree heart block (delayed conduction with normal HR 2nd degree heart block involves occasional dropped beats

Breast cancer treatment in pregnancy by stages

1st tri: avoid chemo 2 tri: all options available 3rd tri: avoid radiation

Case 20Y G1 at 16w presents for consultation regarding Crohn's disease in pregnancy. She was diagnosed at 14yrs of age and is currently taking weekly Humira (adalimumab) and as needed ibuprofen for arthralgias. She was intermittent diarrhea and constipation. Her diagnosis was made w/ a biopsy at time of colonoscopy. What are risk factors in pregnancy associated w/ Crohn's disease?

1st trimester SAB Preterm birth Low birth weight Possible assoc. w/ small for gestational age. Possible increase of congenital anomalies. The risk of flare is similar to the risk when they are not pregnant, which is approx. 30%. Most medications that are used can also be use din pregnancy and breastfeeding. [] Medications such as sulfasalazine or mesalamine are usually considered 1st line Patietns can typically avoid any surgical intervention unless they have massive hemorrhage or really bad colitis. They would typically have an ileal pouch-anal anastomosis as a surgical intervention.

Autosomal recessive disorders

2/3rd rule: If you are a HEALTHY sibling of an AFFECTED kid then you have 2/3rd chances of being a carrier of an autosomal recessive condition.

Peripartum cardiomyopathy (PPCM): Prognosis How would you counsel a patient with PPCM?

20-60% of pts will recover LV function 10% mortality in 2 years Poor predictors for recovery: - Worse NYHA class - EF < or = 25% - Black race - Indigent status - Multiparity - Older than 30-35 30-50% risk for recurrence even if apparently recovered LV dysfunction Avoid pregnancy if: - EF <50% - Initial EF < or = 25% - Persistent LV dysfunction

Group A streptococcus (GAS)

20-fold increase risk for invasive GAS infection compared to general population When: More than 85% of GAS infections occur postpartum. GAS usually develops w/in 24 hours of birtha nd becomes fulminant w/in 48-96 hours after birth - 60% mortality rate when infection develops w/in 4 days of childbirth Risk factors: - Upper respiratory tract infection -- pharygenal colonization prior to birth - Contact w/ carriers of GAS Most common presentation: - Fever (may manifest hypothermia d/t decrease tissue perfusion - Abdominal pain and tenderness (out of proportion to expected recovery; pain and tenderness may be absent with nerve damage d/t necrotic tissue) Necrotizing fasciitis - Rapidly spereading bacterial infection of soft tissue resulting in tissue necrosis - Typical signs: <>Erythema <>Progressive increase in severity of pain that becomes refractory to narcotic analgesics. <>Extreme anxiety -Late signs: <> Purplish discoloration of skin with bullae, edema, crepitus, black necrotic plaques <> Skin discoloration <> Multisystem organ failure

What chromosomes are significant when considering methylation/imprinting disorders? (hint: 5 of them)

6 7 11 14 15

Hepatitis C

80% acute infections asymptomatic Risk of chronic infection 55-85% - 70% of these develop liver disease - Leading indication for liver transplant Majority of infections due to IVDA Very low risk of sexual transmission Treatmetn NOT recommended during pregnancy % risk vertical transmission CD for usual indications Breastfeeding acceptable

Trisomy 21

90% maternal defect meiosis 1 Diagnosis: Karyotype to know recurrence risk US findings: - Nuchal thickening - EIF - Pyelectasis - Mild ventriculomegaly - Hyperechoic bowel - Shortened limbs Common physical findings: - Decreased muscle tone at birth - Excess skin at the nape of the neck - Flattened nose - Upward slanting eyes - Small ears - Small mouth - Wide, short hands with short fingers - Separated joints between the bones of the skull - Single crease in the palm of the hand - White spots on the iris (Brushfield's spots)

Rubella: vaccination

95% seroconvert Contraindicated in pregnancy Breastfeeding not a contraindication Avoid pregnancy 4 weeks afteer vaccination (although no documented cases of congenital rubella syndrome) Do NOT recommend termination based solely on concern for anomalies post-vaccine

What is a Forest Plot?

A graphical comparison of calculated odds/hazard ratios from many studies Combines data from multiple studies Studies all asking the same question Identify a common statistic and put it on the same axis so you can compare the studies in one image.

Pleiotrophy: definition

A single locus is responsible for a number of distinct and seemingly unrelated phenotypic effects

t-test

A t-test is used to determiend if the MEANS of 2 groups are different Used for PARAMETRIC (normally distributed) data Example: Mean GA at delivery between cases and controls If you can't take an average of the 2 groups, you can't compare them with a t-test. Example: Comparing ethnicities between controls and cases

Chart summary of the alpha and beta thalassemia

Alpha - Carrier - Trait - Hgb H - Hgb Barts Beta - Minor - Intermedia - Major

Summary of GBS guidance changes

ACOG recommends performing universal GBS screening between 36w0d and 37w6d. It includes expanded recommendations regarding maangemetn and tx of women with a penicillin allergy, incluing a recommendation that lab requisitions for GBS cultures note a PCN allergy in the pt, when present, to ensure that the specimen is tested for clindamycin susceptibility. These recommendations also include considertion of PCN allergy skin testing in pts w/ a history of PCN allergy that is a low risk or unknown risk for anaphylaxis. Appropriate Abx regimens for intrapartum abx prophylaxis are reviewed, including wt-based dosage of vacomycin. Women with opresent in labor at 37w0d or more w unknown culture status in the current pregnancy but w/ known positive GBS colonization in a prior pregnancy are candidates for intrapartum abx prophylaxis

GBS and planned cesarean section

ACOG recommends that women planning cesarean birth should nonetheless undergo prenaal GBS culture at 36w0d-37w6d bc onset of labor or rupture of membranes may occur before the planned cesarean birth. Should a woman w/ a planned cesarean birth and a positive antepartum GBS culture present in active labor or with PROM before her scheduled delivery date, a single dose of antibiotic (or combination of antibiotics) that provides GBS prophylaxis and presurgical prophylaxis is appropriate. In most clinical situations, cefazolin will meet both of these criteria. Delaying the cesarean birth to administer dditional doses of abx for GBS prophylaxis along is not indicated.

How do you counsel a patient about expanded carrier screening?

ACOG: Committee Opinion 2020 <> Info about carrier screening should be provided to every pregnant women. (Does not discuss expanded carrier screening)

Ethnicity based carrier screening: Ashkenazi Jewish (ACOG)

ACOG: Standard of care to offer to persons of AJ background or their partners prior to conception or during 1st trimester: - Tay Sachs disease (1/30) - Cystic fibrosis (1/25) - Canavan disease (1/40) - Familial dysautonomia (1/30) *** Know that ACMG recommends five additional screening tests (do not need to memorize)

Fragile X syndrome: Risk of expansion by premutation size. Explain the significance two different trinucleotide repeats in the context of this condition?

AGG triplets = stability (reduces risk of expansion) CGG triplets = premutation pathologic repeats

What is the DDx for antepartum bleeding?

Abruption Placenta previa Vasa previa Uterine rupture Laceration/Trauma GU tract

What are the values of a 1st trimester ultrasound?

Accurate dating of a pregnancy Multiples - establishment of chorionicity Early diagnosis of structural anomalies (54% detected 1st trimester) Early screening for congenital heart disease Early identification of genetic conditions

Achondroplasia

Achondroplasia - FGFR3 mutation - 2 mutations is lethal. - Consider PDG

Achondroplasia

Achondroplasia - Frontal bossing - Trident hand - Autosomal dominant - FGFR3 gene - 80% advanced paternal age

Case 18y G1 presents to triage at 33w2d admitted with pyelonephritis. She is receiving iv fluids and IV antibiotics. She apparently receive d2L of IV fluids in triage and then another 3 L over 12 hours in her antepartum room. You show up to see her the following day and she is complaining of shortness of breath. Physical exam shows decreased lung sounds at bilateral bases. Waht is your next step in management for her at this time?

Administer lasix (need for diuresis, PRIOR to schest xray) Hold IV fluids at this time Be sure pt was NOT given mag (no need for NP or tocolysis)

Case 27Y G1 with ITP presents in spontaneous labor at 39w and precipitously delivers. Upon presentation her platelet count was 37k and immediately pp she experiences a PPH. Her repeat platelet count in k. She is tachycardia and hypotensive. What are your management options specifically regarding management of her platelets?

Administer platelets Consider RhD or immunosuppressant Consult w Hematology Steroids and IVIG Last resort: Splenomegaly

Case 18y G1 presents to triage at 33w2d w/ a temperature of 102.1 complaints of uterine contractions, chills, and pain in her back. CBC shows a WBC of 12.2k, pmns 88, lmphs 2, bands 10, platelets 287k. Urine is turbid and urinalysis shows moderate ketones, 3+ bacteria, + leukocyte esterase, + nitrates physician exam shows right side CVA tenderness, CEFM shows regular contractions What is your next step in management?

Admit to hospital IV antibiotics IV fluids SVE (closed) possible imaging to assess for renal abscess Urine cultures

chorionic villus sampling (CVS): Advantages and disadvantages

Advantages: - Allows for earlier info - Tissue taken allows for certain biochemical analysis not possible on amniocytes Can be "like a pap smear" Disadvantages: - Operator experience and learning curve - Cannot test for NTDs: msAFP at 16w still needed - Maternal cell contamination - Higher change of mosaic result - Confined placental mosaicism (1%)

ACOG recommends a CBC and Hgb electrophoresis in which patient populations?

African Mediterranean Southeast Asian

How do you explain a confidence interval ?

An odds ratio tells you whether the odds in the intervention group are higher or lower than controls Confidence interval tells you how confident you can be about the result. If CI crosses 1, no difference exists between the groups. If the CI does not cross 1, then the groups are different, BUT the p-value tells you whether that difference is significant or not.

Board question: Do you do cell free DNA in twins?

Answer should be NO, routinely. Why?: - cfDNA from both infants and we cannot tell which twin has the positive result - Has not been fully clinically validated in twins

When discussing statistics, what does d/(d+b) represent? 1) Sensitivity 2) Specificity 3) PPV 4) NPV 5) LHR

Answer: 2. Specificity, as it true negative / true negative + false positive; so is true negative over all of those that do not have disease. Note: NPV is the true negative / true negative + false negative

When discussing statistics, what does a / (a+b) represent? 1) Sensitivity 2) Specificity 3) PPV 4) NPV 5) LHR

Answer: 3 Positive predictive value (PPV) True Positive / True positive + False positive

Case 24y G4P3003 at 29w4d presents w/ nausea nd vomiting for 2 days. Maternal vitals: 182 bpm, 132/88, 99.1, FHR 175 bpm. Tocometer w/ irregular contractions. CT w/o contrast of the abdomen shows a distended appendix in the RLQ at 1.5cm w/ an appendicolith, no ascites noted. General surgery feels the pt needs to go to the OR immediately What is your plan of care for this patient in preparation for surgery?

Antenatal corticosteroids Magnesium for neuroprotection (indicated if <32w) Antibiotics (discuss w/ general surgery, broad spectrum, consider cephalosporin such as ancef, depends on hospital) Fetal monitoring decisions (before and after surgery is typical, intraoperative can be done if there is concern for a long surgery, if surgery is greater than 1 hour consider intraoperative FHT) NICU consultation

Case A 35Y G2P1 at 32w presents with the diagnosis of Sepsis with pyelonephritis The nurse calls to report the patient is contracting painfully every 3 mintues. She is 32w gestation. SVE 2/50/-2. What are your next steps?

Antenatal corticosteroids CEFM *** Never tocolize a sick patient ***

HIV

Antepartum management of gravidas with HIV (SMFM checklist 2020) First prenatal visit - Laboratory testing: [ ] Update HIV viral load [ ] CD4 T-lymphocyte cell count - Begin cART regimen that contains three active medications based on perinatal guidelines recommendations and/or consult with specialist - Do not wait for genotype results to start treatment - If HLA-B* 5701-positive, do not use abacavir - If G6PD deficiency present, do not use trimethoprim/sulfamethoxazole for Pneumocystis jirovecii prophylaxis or treatment. - If currently on effective cART, continue the same treatment during pregnancy unless contraindicated - If CD4 T-lymphocyte count <200 copies/mL, begin prophylaxis against opportunistic infections. First and Second Trimesters - Recheck Cd4 T-lymphocyte cell count every 3 months - Every 6 months for patients with undetectable viral load and Cd4 count >200 copies/mL - Recheck viral load monthly until RNA levels are undetectable, then every 1-3 months thereafter - Recheck viral load 2-4 weeks after initiating (or changing) cART) - If failure of viral suppression is found: - Assess viral resistance if viral load remains >500 copies/mL with HIV genotype testing - Assess adherence - Consult an HIV treatment expert - Assess adherence and tolerance to cART at every patient visit - Address nausea or other barriers to adherence - Give vaccines if needed (pneumococcal, hepatitis A and B, influenza) - If on protease inhibitor-based regimen, consider early glucose screening Third Trimester [ ] Repeat screening for syphilis, gonorrhea, and chlamydia at 28-34w [ ] Reassess viral load at 34-36 weeks for delivery planning - If viral load is not suppressed, assess adherence and viral resistance [ ] Make a postpartum plan for cART [ ] Determine plan for contraception after delivery [ ] Discuss infant plan of care of pediatric infectious disease team for prophylaxis [ ] Make delivery plan including whether zidovudine will be used and route of delivery - If viral load is =1000 copies/mL at 37-38 weeks, schedule cesarean delivery at 38 weeks.

Sheehan syndrome

Anterior pituitary necrosis, classically attributed to postpartum hemorrhage. Low TSH with low fT4; low ACTH and cortisol Hypotension, hypoglycemia, weakness, nausea, amenorrhea, absence of lactation, muscle/joint pain. Replace glucocorticoids and thyroid hormone.

Genetic concept: Anticipation

Anticipation resutls in next generation having futher expansion with condition becoming earlier and more severe. Mechanism of expansion => slipped mispairing => mismatch => expansion of segment of DNA w/ repeat units = unstable repeat expansion Some conditions can expand more frequently depending on which parent the condition is inherited from.

Chorionic villus sampling (CVS): counseling

Approximately 0.22% (1/455) risk SAB (depends on operator/site) <> site specific risks Complications: <> Infection <1% <> Bleeding 32% TC <> Fluid leakage <1% <> Membrane rupture <> Culture failure <0.5% Confined placental mosaicism <> 1-2% of CVS samples

What does prevalence then change?

As prevalence increases, PPV will increase and NPV will decrease. Sens and Spec are NOT dependent of prevalence. Recall: Prevalence is a point preview, aka a proportion in a population w/ disease at a point in time. Example is: Number of NU residents w/ AIDS on 5.5.2015 divided by number of NY resident on 5.5.2015 based on prior census data. PROPORTION. Can do over period or just at one point in time (for denominator) and then for numerator would have a specific time for cases or a range for cases. Prevalence is from 0-1 or can be listed as a percent. So if the prevalence is 0.06, then 6% of the population being discussed have whatever is being discussed. 10 nurses with UTIs / 165 nurses - 10/165 = 0.06 = 6%, or 6.06 per 100

What is the most common arrhythmia in pregnanyc?

Atrial fibrillation is the most common - Treat as if nonpregnant

myasthenia gravis (MG) in pregnancy

Autoimmune disorder from abnormal T cell regulation and production of antibodies against acetylcholine receptor on the neuromuscular end plate of skeletal muscle Course of MG in pregnancy is variable; worsens in 41%; improved in 29%; unchanged in 30% (Batocchi et al., 1999). Increased risk of exacerbation in the first trimester and the peripartum period (30% risk), particularly when the diagnosis has been made within that past 1-2 years. Signs and symptoms of myasthenia crisis (eg, worsening muscle weakness, respiratory failure, worsening fatigue ) and when she should seek medical care. Course of her previous pregnancy(ies) or the severity of maternal disease does NOT correlate her outcome in the present pregnancy. Overall, the long-term course of the illness is not affected by the pregnancy. We also discussed that in the majority of individuals with sero-positive MG are found to have to have thymic hyperplasia (60-80%) or thymic tumors (21%) and an evaluation of the thymus if recommended (Mao et al., 2012). Timing and route of delivery should be reserved for standard obstetrical indications. Medications considered compatible with pregnancy include pyridostigmine, prednisone, prednisolone and IVIG. Other medications/treatment options include immunosuppression and plasma exchange, however, they are reserved for those who fail 1st line treatments. We discussed medications that have the potential to initiate MG exacerbations including narcotic analgesics, magnesium salts (magnesium sulfate, milks of magnesia), succinylcholine, antibiotics (AMINOGLYCOSIDES, MACROLIDES, fluoroquinolones), quinine, BETA-BLOCKERS, C Don't use magnesium sulfate! can se neonatal myasthenia, transiently, from placental transfer of antibodies against ACh receptor (tx w/ anticholinesteraes, but usually resolves in 6w)

Huntington disease

Autosomal dominant CAG repeat 10-28: Normal, no transmission 40-100+: Develop HD if person lives long enough Progressive neurodegenerative conditions - Expansion of polyglutamine sequences => damage neurons - Increased meiotic instability in males Paternal transmission- greater expansion - attributes to over 3/4 of juvenile cases Signs/Symptoms: - Chorea-jerky, random, uncontraollable movements - Depression - Dementia - Other cognitive defects

Case Eloise is a 35Y G0 presents for preconception consultation. She has h/o Marfan syndrome and wants to have a baby.

Autosomal dominant Fibrillin-1 mutation Cardiovascular musculoskeleta and ocular features

Autosomal dominant pedigree

Autosomal dominant - There is male to male transmission, therefore, this cannot be x-linked dominant.

Myotonic dystrophy

Autosomal dominant CTG repeat Adult-onset muscular dystrophy 1/8000 5-37: Normal 50-90: Mild, Cataract, balding, limited muscle involvement >50ys 90-1000: Muscle weakness, myotonia, cataracts, onset 20-30yrs >1000: congenital - polyhydramnios, hypotonia, developmental delay Instability of repeats: 10% expansion, 3% contraction Congenital DM ALWAYS due to MATERNAL anticipation

Myotonic dystrophy: OB complications

Autosomal dominant CTG trinucleotide repeat Maternal anticipation 90-1000 repeats = classic disease Pregnancy - Can have increased MD sx in pregnancy - Anesthesia consult - EKG - Increased risk for operative delivery, PPH, pneumonia

Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease - Male and females effected - In all generations - There is male to male transmission, therefore, this cannot be x-linked autosomal dominant. 50% risk of transmission

Tuberous sclerosis

Autosomal dominant. Pathogenetic variants: TCS1 or TCS2 Affects skin, brain, kidneys, heart, lungs

Autosomal recessive: pedigree

Autosomal recessive

How would you counsel a patient with PKU about pregnancy?

Autosomal recessive Phenylalanine hydroxylase deficiency PHE metabolized in liver Untreated disease leads to permanent CNS damage Goal 2-6 mg/dL 3 month prior to conception PHE levels monitored weekly Fetal echocardiogram Maternal PKU - Elevated PHE is metabolic teratogen - Poorly controlled maternal PKU --- Neonatal microcephaly (73%) --- Mental retardation (92%) --- Congenital heart defects (12%) --- IUGR (40%) --- Facial dysmorphism (wide, flat NB; wide outer canthal distance, long palpebral fissures, smooth philtrum, anteverted nares and low set, post rotated ears. PKU clinical presentation: - Impaired brain development - Microcephaly - Behavior problems - Musty body odor from excessive PHE excretion - Eczema - Ligh skin, hair pigmentation (decreased melanin production) - Exaggerated DTRs, tremors, hemiplegia

Diastrophic Dysplasia

Autosomal recessive disorder Gene: DTDST (distrophic dysplasia sulfate transporter) US Findings: - Club foot (90%) - Cleft palate (30-60%) - Hitchhiker thumb* - Cauliflower ear* - Short broad fingers, ulnar deviation - Scoliosis and kyphosis - Pulmonary issues

Eisenmenger syndrome: Key avoids

Avoid hypotension - decrease in SVR causes increased R-t-L shunting, bypassing pulmonary circulation leadign to severe hypoxemia and worsening pulm hypertension Avoid excessive blood loss and volume depletion Avoid increase in pulmonary vascular resistance - Hypoxemia - Hypercarbia - Metabolic acidosis - Excess catecholamines - High altitude Avoid iron deficiency and anemia Avoid exercise

Aortic stenosis in pregnancy: Key avoids

Avoid hypotension: necessary to maintain coronary perfusion Avoid hypovolemia: i.e. excessive blood loss, position, Valsalva. Avoid tachycardia: may lead to pulmonary edema Caution: epidural may lead to hypotension and decreased venous return.

Mitral stenosis in pregnancy: Key avoids

Avoid tachycardia: necessary for adequate filling times Avoid hypovolemia: may lead to inadequate filling pressure sand decrease cardiac output. Avoid hypervolemia: may lead to pulmonary edema. Neuraxial anesthesia acceptable.

Spinal cord injuries in pregnancy

Background: Autonomic dysreflexia is the most serious medical complication that occurs in women with SCIs in pregnancy an is found in 85% of patients with lesions at or above T6 level. It is important to avoid stimuli than can lead to autonomic dysreflexia, such as distension or manipulation of the vagina, bladder, urethra, or bowel. Adverse outcomes: Autonomic dysreflexia, urinary tract infections, falls, pyelonephritis, hypertension, pneumonia, preeclampsia, preterm labor, unattended deliveries, thrombosis, worsening spasticity and cesarean section. Autonomic dysreflexia can result in further serious complications including hypertensive encephalopathy, cerebrovascular accidents, intraventricular hemorrhage, retinal hemorrhage, and death. Management considerations: - Baseline pulmonary function testing should be considered with high thoracic or cervical lesions, usually above T5 level. - UTI/asymptomatic bacteriuria screening. Urinary tract infections an pyelonephritis are the most common reason for hospitalization of women with SCI in pregnancy. - VTE risk: Decreased or limited mobility increases the risk of venous thromboembolic disease, and although some have recommended routing antenatal pharmacologic prophylaxis, there are not data supporting the efficacy or safety of this treatment. - Pressure ulcer screening (6-15% of patients). - OB anesthesia consultation - Controlled delivery with early neuraxial anesthesia - Increased risk of depression - Teach uterine palpation to detect suspected preterm labor - Signs/Symptoms of PTL in SCI population: Typically those under control of the sympathetic nervous system (Ex. abdominal leg spasms, shortness of breath, increased spasticity) concurrent with uterine contractions may make women aware of labor.

Syphilis

Bacterial spirochete Treponema pallidum; can start to infect fetus at 6wk but won't see clinical concerns until after 16w Stages: - Primary (A): 2-3w post exposure, see chancre-painless/ulcerated lesion; both screening and confirmatory tests may be negative when chancre appears. - Secondary (A): skin rash starts on trunk/palms/soles, (+) LNs; this is when syphilis disseminates; clear 2-6w w/o tx - Latent <> Early (A): 1yr latent, asym, contagious, serology (+) <> Late (B): >1yr since infection onset, NOT contagious sexually but can still transmit to fetus, serology (+) - Tertiary (C): eye/ear/gumma/CV dz (ortic aneurysms, AI), Argyll-Roberton pupil; high false (+) rate; neurosyphilis Transmission: Sexually; early stages 50%, late (like late latent) stages 10%; mom's more likely to transmit with primary or secondary and NOT latent Congenital syphilis: Stillbirth, death, non-immune hydrops; most severe when pregnant during primary or secondary syphilis [] US: hydrops, large/edematous placenta, hepatomegaly; most asxm at birth [] Early (<2yo): maculopapular rash, snuffles (flu-lie w/ nasal discharge), mucous patches in mouth, hepatosplenomegaly, jaundice, (+)LN, pseudoparalysis of Parrot of osteochondritis, chorioretinitis, iritis [] Late: Hutchinson teeth, mulberry molars, interstitial keratitis, 8th nerve deafness, saddle nose, rhagades, saber shins, CNS issues Testing: - Testing: screen with non-specific antibody (PRP: Rapid plasma reagin), confirmation is Treponemal-specific (FTA-ABS: Fluorescent Treponemal Antibody Absorption or TP-PA: Fluorescent Treponemal Antibody Absorption or TP-PA: Treponemal Pallidum Particle Agglutination) which can be positive lifelong. Treatment (listed by stages above) (A): 2.4 million u Benzathine PCN-G IM x1 (B): 2.3 million u Benzathine PCN_G IM q week x3 (also if unknown duration) (C): 2.4 million u AQUEOUS PCN-G IV q4hr x 14 days Of note: PCN-G only tx in pregnancy, so if allergic desensitize in house! Tx 2nd part of pregnancy can cause Jarisch-Hersheimer rxn (bacteria-spirochetes-dying off faster than body can handle it): fever, decreased FM, ctxns, chills, myalgia, HA, hypotension, worsening lesions; starts hrs after tx and resolves in 24-36h. Re-examine those treated at 6 and 12 months after tx (in pregnancy at 28-32w then at delivery); want to see if a two dilution (four fold) decline in non-treponemal (RPR) in 1yr after tx, if not then re-treat and possible CSF sampled. Re-treatment is regimen (B)

Briefly explain the pathophysiology of alpha and beta thalassemia

Beta(+)/Beta(0) describe GENOTYPE Beta thal major, intermedia, minor describe PHENOTYPE Gnees coding for alpha globin or beta globin are abnormal => results in reduced amount of alpha or beta globulin production => leads to clumping of available globins and formation of different types of hemoglobin (ex HbF (alpha 2 / gamma 2) A hgb electrophoresis determines the proportions of different Hgb types Both autosomal recessive inheritance Alpha thalassemia w/ 1 or 2 gene deletions (carrier or trait): - Microcytic anemia w/ normal electrophoresis - Requires DNA testing to confirm Betal thalassemia trait may have normal electrophoresis (most will show on electrophoresis) Ultimately, DNA testing is required to confirm diagnosis.

Nephrolithiasis

Both kidneys increase in size by 1-1.5cm Kidney volume increase by up to 30% due to increased renal blood flow The renal pelves and caliceal system may be dilated due to progesterone and mechanical compression of the uteters at the pelvic brim Dilated collecting system can hold 200-300mL of urine, results in urinary stasis which leads to reservoir for bacteria and increased risk of pyelonephritis in pregnancy Hydroureter: - seen in 80% pregnant women - visualized by 2nd trimester - R>L due to destroroateion of teh uterus by the segmoid colon, kinking urThe renal pelves and caliceal system may be dilated due to progesterone and mechanical compression of the uteters at the pelvic brim Dilated collecting system can hold 200-300mL of urine, results in urinary stasis which leads to reservoir for bacteria and increased risk of pyelonephritis in pregnancy Hydroureter: - seen in 80% pregnant women - visualized by 2nd trimester - R>L due to destroroateion of teh uterus by the segmoid colon, kinking ureter at is crosss the RIGHT iliac artery, and proximity to the RIGHT ovarian vein. - Due to high concentrations of progesterone (reduced ureteral tone, peristalsis), enlarged uterus GFR increased markedly during pregnancy - Dur to increaed CO and increased renal blood flow - See w/in 1 month of conception - Peaks at 40-50% above baselien by early 2nd tri - Causes decrease serum Cr and decreased BUNeter at is crosss the RIGHT iliac artery, and proximity to the RIGHT ovarian vein. - Due to high concentrations of progesterone (reduced ureteral tone, peristalsis), enlarged uterus GFR increased markedly during pregnancy - Dur to increased CO and increased renal blood flow - See w/in 1 month of conception - Peaks at 40-50% above baselien by early 2nd tri - Causes decrease serum Cr and decreased BUN

Renal physiology pregnancy

Both kidneys increase in size by 1-1.5cm Kidney volume increase by up to 30% due to increased renal blood flow The renal pelvis and caliceal system may be dilated due to progesterone and mechanical compression of the ureters at the pelvic brim Dilated collecting system can hold 200-300mL of urine, results in urinary stasis which leads to reservoir for bacteria and increased risk of pyelonephritis in pregnancy Hydroureter: - seen in 80% pregnant women - visualized by 2nd trimester - R>L due to destroroateion of teh uterus by the segmoid colon, kinking ureter at is crosss the RIGHT iliac artery, and proximity to the RIGHT ovarian vein. - Due to high concentrations of progesterone (reduced ureteral tone, peristalsis), enlarged uterus GFR increased markedly during pregnancy - Dur to increaed CO and increased renal blood flow - See w/in 1 month of conception - Peaks at 40-50% above baselien by early 2nd tri - Causes decrease serum Cr and decreased BUN Pregnant Cr (0.4-0.8 mg/dL): Decline in serum uric acid and see rise late in gestation due to increased renal tubular absorption of urate (see non-pregnatn levels at term) Renal blood flow increases by 60-80% Decreased plasma osmolality: causes thirst, release of antidiuretic hormone (ADH) from the pituitary. Urianry protein excretion rises in normal pregnancy 180-200 mg/d in 3rd triemster (Non-pregannt <100 mg/d) Due to reductions in reabsorption of glucose, amino acids, beta microglobulin: In pregnancy can see glucosuria and amnioacidurai in the absence of hyperglycemia or renal disease.

CPR in pregnancy

C-A-B-U-D C: Circulation A: Airway B: Breathing U: Uterine displacement (NO tilt; manual displacement) D: Delivery

What is your laboratory evaluation for maternal hemorrhage?

CBC Fibrinogen PT/INR aPTT Type and crossmatch Electrolyte panel

What is the workup for anemia in pregnancy?

CBC (focus on Hgb and MCV) Ferritin and/or transferrin saturation % (Tsat) *** Don't use TIBC Diagnostic clues <> >95% of anemia in pregnancy is IDA <> Low RBC count favors IDA <> Very low MCV (<70) favors thalassemia ***you can have a thalassemia and be iron deficient

How do you screen for a thalassemia?

CBC - looknig or a low MCV and low Hgb

Sepsis: Initial laboratory evaluation

CBC w/ Differential CMP Blood culture Urine culture Lactate level

What conditions are associated with the following trinucleotide repeats? CGG GAA CAG CTG

CGG = Fragile X GAA = Friedrich ataxia CAG = Huntington disease CTG= Myotonic dystrophy

Local anesthesia toxicity

CNS effects include: - Metallic taste - Tinnitus - Tingling of the lips - Agitation - Seizures Cardiovascular side effects include: - Bradycardia - Decreased myocardial contractility - Atriventricular block - Vasodilation - Ventricular arrthymias Management: - Call for help - Stop injection or infusion - Airway management - Suppress seizures - Benzodiazepines preferred - Institute lipid emulsion therapy with 20% lipid emulsion (TPN)

What are the goals of sepsis resuscitation?

CVP ≥ 8-12 mmHg MAP ≥ 65 mmHg ScVO2 ≥70% Lactate <2 Urine output: ≥0.5mL/kg/hr

Study design: Power

Calculate prior to performing study bc if ultimate answer is that at best you had a 30% chance of getting a result that is statistically significant you may not want to do the study. Helps to predict the minimum sample size needed to see the effect of what you will study. Can use a power table to calculator to find out the minimum sample (eg: if you want 80% probability of finding an effect, using r=0.3 and two tailed test w/ conventual alpha, would need minimum N of 84 (if one-tailed test, N of 67) Power analysis (made of 4 components) - solving for one unknown variable (usually sample size) - Other 3 components are present a) Effect size b) Significance level = alpha = type 1 error = probability of finding an effect that is NOT there c) Power = beta = Type II error = probability of finding no effect that ACUTALLY is there d) Sample size (n): typically what you are solving for

What is the DDx for "bent bone dysplasias" seen on US

Campomelic dysplasia Thankatophoric dysplasia Kyphomelic dysplasia Osteogenesis imperfecta short rib polydactyly Femoral hypoplasia Hypophosphatasia Stuve-Wideman dysplasia

Fetal transfusions

Can be given via umbilical vein or intraperitoneal Paralytic agent To do: - Check opening Hct - Base volume on EFW / gestational age - Infuse slowly, watch the flow - Check closing Hct, calculate time until next needed

Cohort details

Can be prospective or retrospective - Framingham study - population of one cit followed forward for decades - Chart based review of all neonates born between 2000-2001 with a particular exposure (I.e. magneisum) - can calculate relative risk, and absolute risk if possible

What ureteral/kidney stones are missed on KUB plain film?

Cannot see uric acid stones

Cardiogenic vs non-cardiogenic pulmonary edema; Clinical findings

Cardiogenic - Patchy infiltrates in baes - Central infiltrates - Effusions - Kearly's B lines - Cardiomegaly - BNP >500 - Decreased LV function on echo - Hihg PCOP (>18 mmHg) Non-Cardiogenic - Homogenous fluffy shadows - Peripheral infiltrates - No Kearley's B lines - No cardiomegaly - BNP <100 - High WBC, evidence of infection - Norma PCOP (<18 mmHg) - Normal LV function on echo

Pulmonary edema: Key point

Cardiogenic = hydrostatic - Pump failure - CHF/cardiomyopathy - Cor pulmonale (heart failure due to pulmonary HTN) - Myocardial infarction - Congenital heart disease Non-cardiogenic = non-hydrostatic - Preeclampsia - ARDS - Sepsis/Infection - DIC

Targeted therapy respiratory conditions; Cardiogenic pulmonary edema: Noncardiogenic pulmonary edema: Asthma: Pneumonia: Pulmonary embolism: ARDS:

Cardiogenic pulmonary edema: - Preload and afterload reduction (diuresis, BP control), improve contractility Noncardiogenic pulmonary edema: - Diuresis, treat primary cause Asthma: - Bronchodilation Pneumonia: - Antibiotics/antivirals Pulmonary embolism: - Anticoagulation ARDS: - Supportive therapy, address underlying cause

Cystic fibrosis

Carrier frequency: 1/25 CFTR biallelic mutations - 1700+ mutations - Most common F Delta508 Autosomal recessive ACOG recommends offering CF screening to ALL pts genotype of the most common 23 genes Multisystem - Sweat glands - Respiratory (major cause of M&M) - Digestive - Reproductive Meconium ileus 15-20% babies

Spinal muscular atrophy

Carrier frequency: 1/40 Autosomal recessive SMN1 and SMN2 ACOG recommends all patients be offered SMA screening SMN2 - Number of copies of SMN2 affects severity of severity of disease (not if they have the disease). - Most copies = less severe disease "It's all about the numbers" - SMA carrier screening determines a person's copies of SMN1. (2 or more copies of SMN1 = normal) - Tricky, bc...approx 4% of the time, a person will test negative even though they really are a carrier (see picture) - If a pt has two copies of SMN1 on the SAME gene they will screen negative even though they are clinical a carrier. Affects all ethnic groups #1 genetic killer of children <2yrs 2nd most common autosomal recessive lethal condition in U.S. after cystic fibrosis. Progressive muscle weakness and atrophy Clinical features: - Hypotonia - Absent DTRs - Respiratory compromise

Types of studies: General overview

Case control: starts with OUTCOME - Rare outcomes - Retrospective only - start with OUTCOME; determine what exposure leads to the OUTCOME of interest Cohort: starts with EXPOSURE - start w/ EXPOSURE; determine frequency of outcomes given known exposures - Retrospective or prospective

Design a study to determine if maternal mortality is higher in women with multiple gestations

Case-control study (1) Identify your cases (2) Identify your controls (3) Describe what you are comparing

Design a study to determine if Tylenol increase the risk of peripartum cardiomyopathy.

Case-control study (1) Identify your cases (2) Identify your controls (3) Describe what you are comparing What statistical test do we use? why? - Odds ratio. Interpret these results: - OR 0.7 (95% CI 0.6-0.9) p 0.03 Interpret these results: - OR 1.2 (95% CI 0.7 - 1.7) p=0.4 Exposure increased the risk of periopartum cardiomyopathy by 20%. The real result is between 0.17 and 1.7 and since the p value is >0.05 it is not significant.

Hemophilia categorization

Categorize hemophilia's in you mind as TWO types [] Acquired: Factor VII which is inhibited [] Congential -- (x-linked recessive): Diagnosis is with gene or linkage analysis; in a normal prengancy, factor 8 increases and factor 9 does not! ---- Hemophlila A (Factor *): can treat w/ cryo (8c 12, vWF, fibrinogen) OR fator 8, or DDAVP ---- Hemophilia B (factor 9): can treat w/ factor 9 or FFP (not w/ DDAVP) -- Autosomal Dominant (vWD type 1)

Diabetes insipidus

Caused by lack of vasopressin (ADH) Causes: - Cranial injury - Infection - Tumors - Vascular lesions Symptoms: - Polyuria, polydipsia, but LOW urine specific gravity. Even though ADH and oxytocin both rom posterior lobe of pituitary, DI does NOT correlate with abnormal oxytocin/labor/PPH Can be associated with HELLP or AFLP - Subtype associated with high levels of circulating vasopressinase Treatment: DDAVP (Desmopressin)

Cholecystitis Choledocholithiasis GERD Pancreatitis Gastritis Peptic ulcer disease Myocardial infarction Pyelonephritis Nephrolithiasis Placental abruption Contractions Preterm labor

DDX Abdominal Pain in Pregnancy

Cholelithiasis/cholecystitis Pyelonephritis Appendicitis Preterm labor Abruption Pneumonia

Peripartum cardiomyopathy: Diagnostic criteria

Classic: - Development of HF w/in last month of gestation of 5 months postpartum - Absence of an identifiable cause for heart failure - Absence of recognizable cardiac disease before pregnancy. Additional: - left ventricular systolic dysfunction <> Ejection fraction <45% <> Shortening fraction <30% <> LV end-diastolic volume >2.5 cm/m2

Aortic coarctation in pregnancy

Classically, patients will have hypertension present in upper and not lower extremities (most have hypertension in both arms). Repair usually recommended before pregnancy Post-repair complications include: - Re-coarctation - Aortic aneurysm and dissection - Hypertension 30-40% of pts will also have bicuspid aortic valve which may lead to AS 10% of pts will also have intracranial aneurysms - vs 2% in general population - All pts whoudl have MRA of thoracic aorta and intracranial vessels performed at least once.

What are the clinical criteria for antiphospholipid antibody syndrome?

Clinical Criteria for diagnosis of antiphospholipid antibody syndrome (one of the following): 1. Vascular thrombosis. One or more clinical episodes of arterial, venous or small vessel thrombosis, in any tissue or organ. 2. Pregnancy morbidity (any one of the following): A) One or more unexplained deaths of a morphologically normal fetus at or beyond the 10th week of gestation, with normal fetal morphology documented by ultrasound or by direct examination of the fetus B) One or more premature births of morphologically normal neonate before the 34th weeks of gestation because of eclampsia or severe preeclampsia, or features consistent with placental insufficiency C) Three or more unexplained consecutive spontaneous pregnancy losses before the 10th weeks of pregnancy, with maternal anatomic or hormonal abnormalities and paternal and maternal chromosomal causes excluded.

Design a study to determine if polymorphic eruption of pregnancy (PEP aka PUPPS) syndrome is associated w/ fetal growth restriction.

Cohort study (1) Identify your cases (2) Identify your controls (3) Describe what you are comparing

Design a study to determine if Tylenol increases the risk of peripartum cardiomyopathy (Cohort Study)

Cohort study (1) Identify your cases (2) Identify your controls (3) Describe what you are comparing *** Note the outcome is the SAME Comparing disease/ outcomes to see if there are differences What statistical test do we use? why? - Relative risk (RR). Interpret these results: - RR 1.2 (95% CI 0.7 - 1.7) p=4

Multifactorial inheritance

Combination of genetic and environmental factors Certain isolated birth defects - Neural tube defects (NTDs) - Cleft lip/palate - Congenital heart disease - Club foot Risk to 1st degree relatives is approx population risk squared (2-5%) Risk is sharply lower for 2nd degree relatives and declines rapidly for more distant relatives

Trinucelotide expansion conditions: High yeild (4 conditions)

Common features of these conditions: (Focus on the ones in yellow; know the inheritance patterns of each and the threshold for abnormal repeats) 1: Many have neurological/cognitive symptoms 2: Inheritance patterns vary between conditions - AD, AR, x-linked. 3: Presentation can be at middle to late age with some conditions. 4: Anticipation - earlier and more severe in subsequent generations.

Paired t-test

Compares parametic (normally distributed data) means from 2 groups BUT the observations come from the SAME subject at 2 different times Example: - Hgb levels in the 1st and 2nd trimester from the same patient

Unpaired t-test (Student's t-test)

Compares parametric (normally distributed) means from two different subjects Examples - Comparing mean age of controls and cases of women with and without diabetes - Comparing mean birthweight of controls and cases of women with and without diabetes

Twin-Twin transfusion syndrome

Complicates 10-15% of monochorionic twins - all monochorionic placentas have vascular connections One twin essentially chronically donates blood to the other AV anastomosis instead of normal pairing Progressive disease but may have sudden changes Mortality exceeds 80% if untreated Surveillance: - US q2 weeks from 16w until delivery - >75% of stage 1 will regress or remain stable - Treatment is fetoscopic laser ablations of abnormal communications or serial amnioreduction <> Laser ablation advantages - Improved survival at 6 months - Improved neurologic outcomes (26% vs 17%) - Single procedure <> after laser, 90% will have at least one survivor <> 65% will have 2 survivors

Transfusion-related acute lung injury (TRALI)

Complicates 1:5000 transfusions <>6% mortality risk, but can have complete recovery Leading cause of transfusion-related mortality in U.S. Associated with ANY type of blood component Most popular hypothesis - Antibody mediated - HLA or neutrophil antibody transfused into recipient w/ relevant leukocyte antigen - Leads to endothelial damage and capillary leakage Most developed countries supply plasma, platelets, and whole blood exclusively or predominantly from male donors, female donors with no prior pregnancy, or from donors who test negative for HLA-antibodies to reduce risk of TRALI Clinical diagnosis: - Sudden onset respiratory insufficiency during or w/in 6 hrs of blood product infusion - Hypoxemia - Bilateral infiltrates - Leads to endothelial damage and capillary leakage Diagnosis important - etiology is non-cardiogenic - exclude volume overload Treatment w/ diuretics can worsen symptoms Primary therapy is supportive - May require ventilatory support - Usually improves rapidly, may progress to ARDS - May receive additional blood products from different donor.

Case 26Y G3P2002 at 13w presents to triage with RUQ pain that began 2h after a large meal. She reports a history of an 'inflamed gallbladder' for the last few years and is currently following a low fat diet. She rates her pain at 9/10 that radiates to her back. Exam shows RUQ tenderness, positive Murphy's sign. Vitals show BP 128/77, HR 90 bpm, Temp 100.8. WBC 17K w/ a mild left shift, no bands, amylase and lipase normal, AST 11, ALT 18, Cr 0.4, total/direct/indirect bilirubin normal. UA w/ mild ketones. RUQ US shows no gallbladder wall thickening, multiple small gallstones, normal size common bile duct. What is your current treatment plan?

Concern for acute cholecystitis. Treatment plan: NPO Meds: anti-nausea, pain, IV fluids Antibiotics (required w/ acute cholecystitis or cholangitis): [] Piperacillin/tazobactam (Zosyn) [] Ampicillin/sulbactam (Unasyn) [] Ceftriaxone (Rocephin 1gq24h + metronidazole 500mg q8hr [] Clindamycin if PCN allergy

Pheochromocytoma

Consider if hypertension but also labile BPs, accompanied by anxiety/diaphoresis, headache, palpitations, worsened BPs after beta blocker. Lab Diagnosis: elevated VMA, catecholamines, and metanephrines in urine (24hr); can also check plasma catecholamine and metanephrine levels. Life threatening for mother and fetus.

Management of DKA: Insulin

Continue insulin until the ketoacidosis in her BLOOD has cleared

Case 20Y G1 at 28w presents to your office with symptomatic colitis. How would you counsel the patient regarding mode of delivery?

Controversial, no true randomized control trial to answer this question. There is some limited evidence showing that Crohn's disease patents w/ a perianal abscess, other type of abscess, or fistual should not undergo vaginal delivery. A cesarean delivery may be performed for women with an active perianal disease such as perianal abscess or fistula. I would consider thromboprophyalxis postpartum

What are the goals in blood product resuscitation? When do you stop the massive transfusion protocol?

Corrected coagulopathy Correct acidosis SBP >100 Bleeding has stopped Maintaining oxygenation

Ventriculomegaly

DDx: - Isolated/idopathic - CNS anomaly - CMV infection - Aneuploidy (T21, T13, T18) - Abnormal CC - Aqueductal stenosis - Chiari II malformation - Septo-optic dysplasia Evaluation: - Targeted (USD) fetal ultrasound - Amniocentesis (ideally at >21w) for microarray and evaluation of infectious causes (CMV) regardless of know exposures or symptoms. - Recommend fetal MRI at 22w - Follow-up ultrasound at 28w, 32w and 36w to monitor for growth restriction and significant progression. - Antenatal fetal testing is NOT recommended for ventriculomegaly alone. - Timing and route of delivery should be reserved for regular obstetrical indications. - An eConsult to pediatric neurosurgery Mild (10-12mm) - Isolated 48% - Seen with ACC and ONTD - Infection: CMV - 90% normal outcome / 10% w/ abnormal neurological outcome Moderate (12.1-14.9mm) - Isolated 24% Severe (≥15mm) - Isolated 40% - Increased risk for death - 50% have severe, long-term neurologic sequelae

Serum screening interpretation AFP: Increased

DDx: - Omphalocele - Gastroschisis - Multiple gestation - Dating error

Cardiac rhabdomyoma

DDx: - Rhabdomyoma - Fibroma - Hemangioma - Myxoma - Pericardial teratoma Evaluation: - Detailed US - Fetal echocardiogram - Fetal MRI to evaluation for brain tubers - Eval of mother and father for tuberous sclerosis - Surveillance for signs of obstruction from masses - Monitor for signs of hydrops (serial USs) - Offer termination - Pediatric cardiology referral - Genetic counseling - Diagnostic testing: gene sequencing Clinical considerations: - Majority regress postnatally if they do not cause obstruction or arrhythmia - Prognosis depends on diagnosis - Tuberous sclerosis with CNS lesions <> poorer prognosis <> seizures, ID

Fetal pleural effusion

DDx: - Chylothorax - Bronchopulmonary sequestration - Pleural effusion Evaluation - Detailed (level II) US - Evaluate for hydrops: scalp or chest >5mm, pericardial effusion >2mm. - assoc. polyhydrmanios, placental thickening - Check MCA Dopplers - Drain - send fluid for cytology - Fetal echocardiogram - Serial USs - Genetic counseling / offer genetic amnio

Case A 22Y G1 at 12w presents for consultation due to anemia. She tells you she has always been anemic. She has taken iron on and off in the past. Prenatal records reveal: Hgb 8.4 g/dL MCV 69 What is your DDx? What are the initial steps in the workup?

DDx: - Iron deficinecy anemia - Hemoglobinopathy --- alpha thalassemia --- Beta thalassemia --- Sickle cell anemia - Chronic disease - Sideroblastic anemia Initial workup: - History: bleeding issues, transfusion - FHx of anemia - Draw iron studies (Ferritin and transferrin saturation - Could also draw hemoglobin electrophoresis now due to severity of MCV (<70)

Absent cavum septum pellicidum (CSP)

DDx: - Mild ventriculomegaly - Lobar holoprosencephaly - Speto-optic dysplasia - Corpus callosal agenesis Evaluation: - Detailed (level II) US - Genetics consult - Genetic testing - Fetal MRI Clinical considerations: - Chromosomal anomalies (10-20%; T13, T18, triploidy) - Isolated agenesis of CC: 75 normal at 3yrs - However, poor prognosis if other malformations or associated with genetic syndromes or chromosomal abnormalities

Acrania-exencephaly-anencephaly sequence

DDx: Amniotic band syndrome Severe microcephaly Encephalocele Atelocephaly (small, fluid filled calvarium - no supratentorial structures) Evaluation: Detailed US Consider amniocentesis Counseling: - Lethal: offer termination - Recurrence risk: 2-5% - Preconcpetion: folic acid 4mg (reduce risk 70%) Risk factors: - Folic acid deficiency, diabetes, obesity, Mtx/VPA/Carbamazepine (folic acid antagonists)

DDx: OB related: Intrauterine infection (Chorioamnionitis) Non-OB related: Pyelonephritis Pneumonia Cholelithiasis Appendicitis Nephrolithiasis

Case 18y G1 presents to triage at 33w2d w/ a temperature of 102.1 complaints of uterine contractions, chills, and pain in her back. What is you DDx? What is your initial work up?

DDx: OB: PTC, PTL, abruption ABD: appendicitis, SBO, constipation, cholecystitis, diverticulitis GYN: Ovrian cyst, TOA, adnexal mass, fibroids GU :cystitis, pyelonephritis, renal abscess, renal stone Workup H&P Labs: CBC, CMP, UA (w/ reflex culture) Fetal monitoring

DDx for anemia is pregnancy?

Def: 1st tri( 11/33), 2nd tri (10.5 / 32) , 3rd tri (11/33) Microcytic (<80fl) IDA Thalassemia Chronic disease Lead poisoning Sideroblastic anemia Normocytic (80-100fl) - Hemorrhage - Early IDA - Chronic disease - bone marrow suppression - Chronic renal insufficiency - Endocrine dysfunction - Autoimmune - Hypothyroid Macrocytic (>100fl) - Folic acid deficiency - B12 deficiency - Drug induced (zidovudine) - Liver disease - etOH abuse - Reticulocytosis

Marfan syndrome

Defective fibrillin gene leads to weakened connective tissues. Autosomal dominant. Highly variable Classic findings: arachnodactyly, long arm span, joint hypermobility, scoliosis, dilation/dissection of ascending aorta. 60-80% of adults with Marfan Syndrome will have aortic root dilation with or without aortic regurgitation. Aneurysmal dilation and dissection of the aorta account for the majority of the morbidity and mortality. Rupture risk during pregnancy increases with degree of dilation - Normal aortic dimension: Rupture risk <1% - Aortic root diameter >4cm: Rupture risk approx 10% Aortic root diameter >4.5cm is an indication for preconception repair if patient desires pregnancy. The risk for dissection is decreased but not eliminated following surgical correction. - 50% will require repair of aneurysm in another location. Key management points: - Avoid hypertension: Goal SBP <130 - Avoid tachycardia: Goal HR <70 bpm at rest (nonpregnant) - Avoid valsalva: assisted 2nd stage, pain management w/ epidural. CS may benefit pts w/ aortic root diameter >4cm, aortic root dissection or heart failure

Smith-Lemli-Opitz Syndrome (SLOS)

Deficiency: 7-Dehydrocholesterol Reductase Defect in cholesterol synthesis. Lack of correct double bond formation in cholesterol B ring. Microencephaly, embryonic malformations, low IQ. Cannot make steroids/bile acids Autosomal recessive disorder CNS abnormalities on US US characteristics - Microcephaly - 2,3-toe syndactyly - Polydactyly - Disorder of sexual development (DSD): ambiguous genitalia - Brain abnormalities: vermis hypoplasia, V-shaped mouth, small upturned nose - GU anomalies: bladder extrophy, renal agenesis, MCDK, ambiguous genitalia, hypospadia Biochemical screen: - very low estriol (E3) Prognosis: Guarded

Who should get a right heart catheterization to evaluate for pulmonary hypertension?

Depends on echo findings: - the peak tricuspid regurgitant jet velocity - Presence of other signs of PH on echo

Toxoplasmosis: treatment

Depends on gestational age Don't use Pyrimethamine-sulfadiazine prior to 18 weeks

Hydrops: Evaluation

Detailed (level II) US Fetal echocardiogram Genetic counseling FHx & Genetic testing (microarray) Infection exposure Indirect Coombs' (looking for antibodies in serum): r/o immune hydrops CBC, MCV: Thalassemia Kleinhauer-Betke: feto-maternal hemorrhage Serology: infection

22q11.2 deletion

DiGeorge Velocardiofacial Syndrome Microarray FISH misses 20% Autosomal dominant: 95% de novo 100% penetrance, high variable expressivity Clinical considerations: - Characteristic facial appearance - Congenital heart disease (ROF, VSD, interrupted aortic arch) - palate anomalies - Learning disabilities (70-90%) - Immune deficiency (>70%) - Hypocalcemia (50%) most serious in neonatal period - Autism (30%) Psychiatric illness (25% adults)

Case 37Y G1 at 20w presetns to L&D w/ a clear outbreak of chicken pox. How do you counsel and treat her?

Diagnosis can be made with anti-VZV igM Transmission can be via respiratory droplets and vesicle contact Risk to the pregnancy are fetal demise, IUGR, and congenital anomalies (microcephaly, ventriculomegaly, echogenic foci in liveer, limb anomalies) I recommend serial growth USs Treat with antiviral therapy VZIG (varicella zoster immune globulin) - IM , i vial per 10kg (max 5 vials) OR Acyclovir 800mg po 5x/d for 7 days OR Valcyclovir 1000mg po TID x 7d

Forest plot: graph interpretation

Diamond is the key part of the plot average of results of all the studies.

How do you determine chorionicity in twins?

Dichorionic - Labda or "twin peak" sign - Thick membrane - Placentas may be separate OR fused - Gener may be the same or different Monochorionic - No lambda sign - Thin membrane - Single placenta - Gender the same (Extremely rare exceptions)

Alloimmunization: Antibody titers

Direct coombs: antibodies on surface of patient's RBCs Indirect coombs: Antibodies in patient's serum against certain RBC antigens USE SAME LAB Critical titer 1/16 for INDIRECT Coombs Titers only helpful in FIRST affected pregnancy (if second affected pregnancy you would just start MCA Dopplers at 16w) Titers NOT reliable for Kell antibodies Almost 60% of first pregnancies affected by alloimmunization will NOT develop a critical anti-Rh(D) titer Of first pregnancies affected by alloimmunization up to 54% will develop HDFN

Alloimmunization: Antigen testing

Discuss paternity and document Order paternal antigen testing Paternal zygosity estimated from CDE antigen testing If cannot be done, or paternity undertain: manage fetus as if at risk (or perform cfDNA for Rh if D Ab involved) Heterozygous father: 50% risk of D positive child Homozygous father: 100% risk of D positive child

How do we define organ dysfunction for sepsis?

Do not need to memorize SOFA score

SOFA score: 7 components

Do not need to memorize.

Cerebroplacental ratio (CPR)

Don't discuss on boards

CMV: Choosing wisely #10

Don't perform maternal serologic studies for cytomegalovirus and toxoplasma as part of routine prenatal laboratory studies. Routine serologic screening of pregnant women for CMV and toxoplasmosis is not recommended due to poor predictive value of these tests and potential for harm due to false positive results. Serologic screening during pregnancy for both diseases should be reserved for situations in which there is clinical or ultrasound suspicion of maternal or fetal infection.

Non-CDE antigens and hemolytic disease of the newborn (HDN)

Don't use titer for Kell antigens

G-banding chromosomes

Dye gives chromosomes a striped appearance because it stains the regions of DNA that are rich in adenine (A) and thymine (T) base pairs.

P-R intervals

E = passive early inflow A = atrial contraction V- ventricular contraction

Tranexamic acid review

Early activation of fibrinolysis is associated with increased mortality Trauma (and childbirth) activate early fibrinolysis TXA reduces bleeding by inhibiting the enzymatic breakdown of fibrinogen and fibrin by plasmin Give within 3 hours of delivery 1gram over 10-20 minutes Repeat after 30 minutes for continued bleeding Prophylactic dosing is not recommended.

Case 32Y G0 presents to your office for a prepregnancy consultation regarding medication exposure for anxiety, depression, and panic attacks. Her current medications are effexor (venlafaxine) 75mg daily, Xanx (alprazolam) 1 mg TID, and ambien 5mg qHS as needed. How do you counsel this patient about her medications in a future pregnancy?

Effexor is an SNRI. There is more data in pregnancy on SSRIs, particularly sertraline (Zoloft) as first line as it idoes not increase teratogenicity and does not correlate w/ VSDs like other SSRIs such as paroxetine (Paxil). We can discuss continuing her SNRI or switching to an SSRI such as zoloft that has more data Xanax is a benzodiazepine and limited use i spreferred in pregnancy. I would recommend limited as needed use. She can consider changing from Ambien (neonatal respiratory distress w/ use near delivery) to Unisom or Benadryl. I would discuss the risk to a neonate associated with SSRI or benzodiazepine exposure in-utero include neonatal abstinence syndrome (agitation, irritability, insomnia, poor feeding, vomiting, diarrhea, hypoglycemia, hypothermia, RDS, altered muscle tone, shivering, seizures) and persistent pulmonary hypertension (from SSRIs). There is more concern when exposure is in the late 3rd trimester.

Maternal PKU

Elevated PHE is teratogentic Lack of proper dietary therapy during pregnancy. Findings in infant: - microcephaly, - mental retardation, - growth retardation, - congenital heart defects. Top 4 CHD with PKU - Coarctation (20%) - TOF (17%) - Patent ductus arteriosus (14%) - HLHS (11%) - VSD (11%)

Prolactinoma in prengnacy

Elevated prolactin + pituitary tumor on imaging (MRI) Symptoms: HA, bitemporal hemianopsia, galactorrhea Micro vs Macroadenoma: Size ≥1cm = Macro Macroadenoma risk of enlargement during pregnancy is approx 15-30% Usually diagnosed before pregnancy (high assoc. w/ infertility, don't usually become pregnant unless being treated) Treatment: - Dopamine agonists (cabergoline or Bromocriptine) - OK to stop tx in pregnancy if microadenoma - Ask at every visit about HA/vision changes, consider formal visual field eval q trimester if macroadenoma - Transsphenoidal surgery only if failed medical management (would do during pregnancy if visual impairment despite medication) No alteration to delivery route of timing No need for antenatal testing Long experience with bromocriptine (no known fetal teratogenicity).

Atopic eruptions of pregnancy

Encompasses 3 disorders that start with inflammatory papules, no increased risk to fetus Prurigo of pregnancy (aka linear IgM disease of pregnancy) [] Dx: 2-3 trimester; erythematous, excoriated nodules/ papules on extensors of limbs and trunk, lesiosn group cand can be crusted; resolves postpartum, no labs/bx needed [] Tx: low-mid potency soptical steroids, rarely need IV steroids; nonsedating antihistamines, may recur in future pregnancies Pruritic folliculitis of pregnancy [] Dxn: pustule cx to r/o bacterial/candida folliculitis; 2-3 trimester, follicular based apules/pustules mainly on trunk sometimes to extremitites, clears 2w pp, no labs/bx needed. [] Tx: Low-mid potency steroids topically, rarely po steroids, can try antihistamines Eczema (common, a/w seasonal rhinitis or asthma) [] 1-2 trimester, flexor surfaces, no bx needed, 70% have high serum IgE [] Tx: skin hydration, may need low-mild topical steroids

What are the classic imaging features of acute appendicitis on CT?

Enlarged appendiceal double-wall thickness (>6mm) Appendiceal wall thickening (>2mm) Periappendiceal fat stranding Appendiceal wall enhancement Enlarged, non-filling tubular stucture in RLQ, RLQ inflammation Appendicolith (seen in a minority of pts) is calcified deposit classic for acute appendicitis; can decrease radiation exposure to as low as 3mGy

Hydrops fetalis

Ensues w/ fetal Hgb <5 g/dL Probably assoc. w/ decreased albumin due to extramedullary hematopiesis in liver Hypoalbuminemia - 14% mild anemia - 63% severe anemia Sinusoidal FHR may develop - amplitude 015 bpm - frequency 2-5 cycles per minute

Talipes equinovarus (Club foot)

Evaluation: - Detailed (Level II) US - If isolated, genetic testing not necessary (but would offer genetic testing for boards) You never know if you've missed an associated anomaly - Consultation with orthopedics Clinical considerations: - One of the most common findings on prenatal US - 1-3/1000 births - Unilaeral vs bilateral - In isolation, usually not genetic - Multifactorial inheritance - Subsequent pregnancy risk 3-5% (male 3%, female 5%) - 10% cases where clubfoot was dx prenatally - feet are normal - Good outcomes after casting, in most cases, refer to orthopedics

Cleft lip & palate

Evaluations: - Detailed US - 3D US to evaluate face - Referral to genetic counselor - consideration of genetic amnio (Usually isolated but I offer everyone with an anomaly an amniocentesis with microarray) - Referral to plastics, maxillofacial surgery, NICU Clinical considerations: - Usually surgically fixable - Multi-disciplinary care - Offer social support, counseling - Presurgical nasal alveolar molding devices - lip taping, intraoral appliances.

Should should you included in a focused US for skeletal dysplasia?

Examine all of the extremities Bone mineralization Hands/feet (polydactyly, hitch hiker thumb, trident hands) Scapula and clavicles Profile and head shape Spine: abnormal curvature, hemi-vertebrae Chest shape, ribs Ratios: <> FL/Foot length: <1 suggests SD <> FL/AC <0.16: suggests lethality <> Chest circum/AC <0.8 suggests lethality

Wilcoxon Ran Sum/Mann-Whitney U: Example

Example: Comparing income between 2 groups - If normally distributed, use t-test to compare means - If you have outliers - say most income is between 150,000 - 250,000/year bur in each group, you have some earning <75,000 and some earning >500,000. -- Use WRS or MWU -- WRS: compare median income of individuals before and after graduation from residency -- MWU: Compare median income of OBs vs General Surgeons

Cushing's Syndrome

Excess cortisol bc of excess ACTH (from pituityar or otherwise), or from adrenal tumor that produces excessive cortisol. Symptoms: Difficult to separate from normal prengancy - Wt gain - Striae - Changes in pigmentation - Edema Diagnosis: Challenging - Urinary free cortisol 180% higher in pregnancy - Loss of cortisol suppression after regular dose dexamethasone - Consider high dose dexamethasone suppression test. - If truly suspicious, imaging (adrenal adenoma is most common cause in pregnancy) Increased risks: - PIH/preeclampsia - Diabetes/GDM - Heart failure - Psychiatric issues - Maternal death - Preterm birth - SAB/stillbirth - IUGR

What is the associated risk of pregnancy for WHO class 4 lesions?

Extremely high risk of maternal mortality or severe morbidity. Pregnancy contraindicated. If pregnancy occurs termination should be discussed. If pregnancy consitnues, care as for class III

Indications for intubation and mechanical ventilation

Failure to oxygenate Failure to ventilate Unable to maintain work of breathing Unable to protect airway

24y G4P3003 at 29w4d presents w/ nausea nd vomiting for 2 days. Maternal vitals: 182 bpm, 132/88, 99.1, FHR 175 bpm. Tocometer w/ irregular contractions. CT w/o contrast of the abdomen shows a distended appendix in the RLQ at 1.5cm w/ an appendicolith, no ascites noted. General surgery feels the pt needs to go to the OR immediately The pt undergoes GETA and an initial laparoscopic procedure, however, general surgery converts to a laparotomy due to findings of a perforated retrocecal appendix. They note a Couvellair uterus. There was extensive manipulation of the uterus during the surgery to remove the appendix. She is taken to the PACU in stable condition (vitals stable). What is your plan at this time?

Fetal monitoring: Contiuous Vitals: frequent *** Concern for a placental abrutpion. Signs/symptoms of abruption were to present then would recommend delivery

What are the clinical manifestations of acute hemolytic reaction?

Fever Chills Flank and back pain Chest pain Vasoconstriction with ischemia Circulatory collapse and shock Microangiopathic thrombosis

Fluoresence in situ hybridization (FISH)

Fluorescent DNA or RNA probe binds to specific gene site of interest. Used for specific localization of genes and direct visualization of anomalies (e.g., microdeletions) at molecular level (when deletion is too small to be visualized by karyotype). Fluorescence = gene is present; no fluorescence = gene has been deleted.

DDx for intellectual disability (Mentral retardation)

Fragile X syndrome Down syndrome PKU Prader-Willi Cri du chat syndrome Rett syndrome (only affected fetamles (lethal in males) Infections (I.e. TORCH) Fetal alcohol syndrome

Case A 22y G1 presents for her anatomy US at 20w. The referring OB intake form states 'drug use'. You notice that she appears anxious and is shaking. How do you proceed with this patient?

For all patients with substance abuse I perform Screening, Brief Intervention, Referral to Treatment History and physical I universally Screen all patients for substance abuse. Options for screening tools are the 4 P's, NIDA (online) or CRAFFT (specific for women less than 26yrs). The 4 P's - Parents: use drugs/alcohol - Partner: use drugs/alcohol - Past: prior difficulties w/ drugs/alcohol/Rx meds - Present: in past month had any alcohol or drugs ***If yes to any of the above, ask more questions CRAFFT - In a CAR with someone intoxicated - Use drugs/alcohol to RELAX - Use drugs/alcohol while ALONE - FORGET things while using drugs/alcohol - FRIENDS/FAMILY tell you to cut back on drugs/alcohol - Gotten into TROUBLE while using drugs/alcohol *** Each of the above (6 total) is worth 1 point. If 2 or more total then has about a 50% probability of abuse/dependence and needs further workup

How would you explain to a patient if their results have the following: PPV: 75% NPV: 80% Sens: 90% Spec: 90%

For patients, predictive values may be more meaningful than sensitivity and specificity (they incorporate both sensitivity and specificity as well as pre-test probability). Positive predictive value (75%) : if you test positive, there is on average 75% chance that you have the disease and 25% that you do not. Negative predictive value (80%): if you test negative, there is on average 80% chance that you do not have the disease and 20% that you do. Sensitivity (90%): the test will identify 90% of patients with the disease, it misses 10%. (SNOUT) Specificity (90%): the test will misidentify 10% of healthy people as having the disease. ("SPIN)

Case You are seeing a patient who is a 25Y G2P1 at 12w for genetic consultation. Her first child, as son, is mildly autistic and she has a nephew with ADHD and some mental delays. What condition condition comes to mind and how is it inherited? What testing would you perform to determine risk of the condition in future pregnancies?

Fragile X syndrome - CGG trinucleotide repeat X-linked recessive Chorionic villus sampling (cannot determined methylation status with CVS)

Recurrent pregnancy loss: Key elements in history

GA of prior losses (+/- fetal cardiac activity) - Chromosomal & endocrine - early - Anatomic & autoimmune - later Regular menstrual cycles Galactorrhea H/o uterine instrumentation H/o birth defects or karyotypic abnormalities Exposure to environmental toxins H/o venous thrombosis -- APAS Detailed FHx: recurrent SAB or aneuploidy in family suggesting translocation

What is the DDx for 2nd and 3rd trimester recurrent pregnancy loss?

Genetic - Alpha thalassemia - Myotonic dystrophy - X-linked dominant disorders

Explain genetic anticipation

Genetic disease has earlier onset and increased severity with each succeeding generation

Recurrent pregnancy loss: standard workup

Genetic: Parental karyotypes of patient and her partner Chromosomal microarray (CMA) on POCs Karyotype on POCs (will find UNbalanced translocation) Uterine assessment/structural: HSG or sonohystogram Immune/APAS: Antiphospholipid antibody screening when pt meets clinical criteria. Endocrine - TSH - Prolactin

Case 24y G1 presents to your clinic w/ a positive HIV screening test. She presents at 29w and her CD4 count is noted to be low at 66 and her viral load is significantly elevated. How dose this alter you plan of management?

Given the low CD4 count the pt would need to be treated to preven pneumonia (particular pneumocystis carinii pneumnoia), toxoplasmosis, mycobacterium avium complex (MAC) I would treated the patient with Bactrim (to cover general PNA and PCP) and azithromycin (to cover MAC). If the CD4 count was below 50 then would also treat with fluconazole to prevent Cryptococcus. *** when the CD4 count is less than 200, this is considered AIDS

H&P Vital signs Lab: CBC, CMP, amylase, lipase, UA Imaging: US (RUQ) IV Pain management Fetal ultrasound

Case 26Y G3P2002 at 18w presents to triage with a history of acute cholecystitis s/p expectant management. She reports recurrent terrible RUQ pain. VItal signs show she is febrile, tachycardic, and labs show an AST 76, ALT 109, amylase 500, lipase 700. WBC is 20k w/ bandemia. What is your plan of management?

H&P Vital signs Lab: CBC, CMP, amylase, lipase, UA Imaging: US (RUQ) IV Pain management Fetal ultrasound Possible MRCP if US not helpful (avoid ERCP unless necessary or felt could be therapeutic) Antibiotics Consult GI and general surgery

Power analysis: Effect size

Hardest to gauge Estimated from the literature or prior studies Smaller effect size requires more subjects R = correlation coefficient ranges from -1 to +1 - Effect size low if 0.1 - Effect size medium if around 0.3 - Effect size high if above 0.5

Congenital rubella sndrome

Hematologic transmission to fetus Deafness, cardiac defects, cataracts, FGR Greatest risk: 1st trimester - 80-85% risk of defects - Little risk after 18-20 wks - 3rd trimester only risk may be FGR

Hemophilia A

Hemophilia A X-Linked recessive Females can be affected secondary to skewed x-inactivation 50% risk transmission to male offspring

Hepatitis B in pregnancy

Hepatitis B vertical transmission risk: There is a baseline vertical transmission risk in mothers with hepatitis B that varies based on trimester, viral load, neonatal immunoprophylaxis and the presence or absence of HBeAg. These risks are present in the absence of any invasive procedures such as CVS or amniocentesis. <> In HBsAg(+) and HBeAg(-) mothers the VT risk is 20-30% in the absence of HBV neonatal immunoprophylaixs and 5-15% if the neonate receives immunoprophylaxis. <> In HBsAg(+) and HBeAg(+) mothers the VT risk is 90%. <> Women with high viral loads load >6-8 log 10 (>1,000,000) copies/mL or who are HBeAg positive the VT risk is 10% regardless of neonatal immunoprophylaxis. Hepatitis B vertical transmission risk with amniocentesis: Vertical transmission risk of amniocentesis has been described but appears to be low (Lopez et al., 2010). The population with the lowest risk of VT is when the mother is HBeAg negative with a low HBV viral load, defined at < 7log10 copies/mL, and the procedure is completed with a 22-gauge needed under continuous guidance (Towers CV et al., 2001; Yi W., et al 2014). Maternal antiretroviral therapy: In pregnant women with HBV infection and viral load >6-8 log 10 copies/mL, HBV-targeted maternal antiviral therapy should be considered to decrease VT risk. Possible interventions include antiretroviral therapy with Tenofovir (first line) 300 mg/day or Lamivudine (second line agent due to high resistance) 100 mg daily from 28 weeks' gestation until 1 month postpartum. The use of lamivudine and tenofovir in the postpartum period is not currently recommended solely for HBV prevention until additional data are available. (2016 SMFM Consult Series #38) *** to convert viral load form IU/mL to copies/mL multiply x 5.6. Recommendations: - Workup: HBsAg, HBsAb, HBcAb, HbCIgM, HBeAg, HBeAb, LFTs - HBV viral load should be obtained in the third trimester (28-32w) - Antepartum testing: Not indicated - Route and timing of delivery: Per standard OB indications - Hepatitis B vaccine and HBIG should be given within 12 hours of birth to all newborns of HBsAg positive mothers. - Breastfeeding: not contraindicated contingent that the neonate receives HBIg and HB vaccine

Hepatitis B: management

High viral load =

Case Patient with breast cancer and recently postpartum. How do you counsel her regarding breastfeeding?

How do you counsel her regarding breastfeeding? - Contraindicated in those on hormonal therapy or chemotherapy. - After surgery or radiation, not contraindicated, but HALF are not able to breastfeed (typically due to fibrosis from the treatment) - Neonates do not prefer mil from the treated breast, there is less fat and more sodium.

Case 8 30y G0 presents to your office for a preconception visit. She was diagnosed with breast cancer 2 months ago and is currently going through chemotherapy after her bilateral mastectomy a month ago. She is curious about her options for becoming pregnant in the near future as she recently got married and desires a family. How do you counsel her?

How do you counsel her? - ideal to wait more than 6 months post chemo therapy, as this gives the oocytes time to mature. The risk of relapse is always there, and for this the patient could consider waiting for more than 2 years after her diagnosis. I would be sure to personalize the discussion for each patient, particularly discussing the risk of relapse, future fertility options, age for starting a family, and type of adjuvant treatment and how long these various treatments would last.

Cytomegalovirus (CMV)

How is the diagnosis made? - CMV serologies are sent. If IgG and IgM positive, IgG avidity testing is needed. If IgG avidity is result is high (>65%) it indicates that the primary infection was >6 months. IgG avidity is low (<30%), hows a more recent primary infection like in the last 2-4 months. The results can return as low (<0.5), intermediate (0.5-0.59), or high (>0.6). Explain the avidity test? - Antibodies made when there is a primary infection have a lower antigen avidity than those made with a non-primary infection. So, over time the antibody maturates and then is at a higher antibody avidity. In SMFM Consult series, IgM(+) w/ IgG(+) and low avidity means infection within last 3 months. Fetal and Neonatal concerns? - On US: cerebral calcifications, microcephaly, echogenic bowel, IUGR, subependymal cysts (cysts lining the wall of the brain), ventriculomegaly, pericardial effusion, hyperechoic kidneys, hepatomegaly, placenta big or calcified, liver calcifications, hydrops. - If US findings seen, suggest fetal infection <50% of the time - Neonate: Jaundice, rash, hepatosplenomegaly, death, deafness Do you recommend screening for CMV in all patients? - No, as there is not a cleara disease process, nor known prevalence. Also tere is no early intervention. So, is not an effective screening test. One RCT showed no benefit over placebo for the intervention. So, if screen positive, intervention may actually cause harm

Case 37Y G1 presents at 12w. She reports palpating a painless lump in her left breast and some intermittent nipple discharge. The diagnosis of breast cancer has been made for this patient. How would you counsel her on her treatment options? If the initial diagnosis was made at 38w gestation, would this change your management options for the patient?

How would you counsel her on her treatment options? - 1st trimester:, her optiosn are surgery , radiation - 2nd trimester: surgery, radiation, chemotherapy - 3rd trimester: Surgery, chemotherapy - Multidisciplinary approach to bring least fetal hearm and best maternal care If the initial diagnosis was made at 38w gestation, would this change your management options for the patient? - Treatment should begin after delivery when the patient is 2-3 weeks from delivery

What is DKA?

Hyperglycemia Acidosis Hypokalemia Hypovolemia

Massive transfusion: complications

Hypothermia Coagulopathies Electrolyte imbalances Transfusion reactions

23Y G2P0010 (prior 1st trimester SAB) presented for an anatomy US to your office at 20w. Normal fetal anatomy is noted. On routine vaginal cervical screening her cervical length is noted to be 1.1cm w/ funneling. How do you counsel this patient?

I discuss w/ her that pts w/ no prior preterm delivery and a noted CL less than 20mm before 24w, the recommendation to decrease the risk of preterm birth is to begin vaginal progesterone. I would inform her that this can decrease the risk of preterm delivery before 34w by approx.. 30-40% We can also discuss reassessing her cervical length. I would also consider performing a SVE. I discuss pelvic rest.

Cervical lenth screening: Key points

I initially assess the cervis at some point between 16-24 weeks. I never assess before 16w as th LUS is underdeveloped, so the ECC is hard to identify I do not screen CL past 24 weeks, bc interventions studied have typically used 24w as the limit to intervene or treat There is a difference in how I perform CL screening for women w or w/o a PTD> If hx of PTB, I woudl perform CL every 1-2 weeks from 16-24w I WIL ALWAYS perform a TVCL screen for women with a singleton and a history of spontaneous preterm birth. In my practice, even women without a history fo PTB will get a TVCL at their anatomy US (if teh GA is between the guidelines, 16-24w)*** For women w/ a prior LEEP or CKC, data is not clear. Typically the severity of the dysplasia has more of a link than the procedure done. If she just a history of an abnormal pap, I do not treat her any differently As midtrimester CL assessment by TVUS is teh best clinical predictor of spontaneous preterm birth, I would assess the cervical length at the anatomy US. The cervix can be considered short if measuring from 2-3 cm. If a short cervix is found I will take and extensive OB Hx. I will discuss w/ the patient that the shorter the cervix the higher the risk of delivery prematurely. I prefer TVUS to assess the CL as the TVUS CL is more reproducible and not affected by maternal obesity, cervical position, or shadowing from various parts of the fetus.

What are some issues you could run into w/ a case-control study?

I want to be careful to avoid confounding variables, particularly recall bias, as the individuals in the case group may have biased recall over those in the control group.

18y G1 at 12w2d is referred for anemia. Her hemoglobin is 8.2 w a hct of 27.3. The MCV is 72. Her lab results show normal iron studies. Hgb electrophoresis HgbA 0%, HgbS 95%, HgbA2 3%, HgbF 2% A repeat CBC returns with a Hgb 5.2 g/dL. Does this change your current plan of care?

I would consider transfusion if Hgb < 6g/dL IV iron (ferrous sucrose over iron dextran as with less anaphylaxis)s showed higher Hgb increase at 5d pp but no difference at 40d pp compared to po iron No evidence EPO added to po iron has much of an H/H increase.

Case: You receive a call from the hospital for a consultation regarding a 27Y G3P1011 at 30w1d for 'preterm labor.' You are told she has not yet been evaluated. What is your plan of management?

I would take a detailed H&P; assess frequency of contractions and history of preterm delivery Labs: - UA - UDS - GBS - GC swab - Wet mount My workup would include a SSE w/ collection of a fFN. I can then assess a CL - If >3cm i woudl send the pt home - If <2cm i would not sent fFN, check her cervix, and admit for continued management of preterm labor - If 2-3cm I would send the fFN and likley still treat for concern of preterm labor For the pt that I have concern for PTL, I would - Antenatal corticosteroids - MgSO4 for neuroprotection - CEFM (duration pending SVE, frequency of contractions, and FHR interpretation) - Regarding tocolytics, I will consider use for the first 48h (which could be NSAIDS, beta adrenergic receptor agonist, CCB). After 48 hours I do not administer tocolytics as it has not proven to prevent preterm birth or improve neonatal outcome. - GBS culture and possible prophylaxis

Cytogenetics/Chromosome analysis: Karyotype

IDs all chromosomal aneuploidies and structural chromosomal abnormalities that are microscopically visible and a least 4-5 MB in size Limitations: - Low resolution - Does not detect point mutations - Need for cell culture => Longer TAT (10-14 days) - Subjective interpretation - Requires a fresh sample containing LIVE cells <> Cannot use - serum, mature RBCs, biopsies put in formalin or other preservatives <> Some tissue samples from SABs may no longer be viable when detal demise is discovered.

Case 27Y G1 at 22w is referred for a platelet count of 75. Remaining CBC is normal. Repeat CBC returns w/ a platelet count of 45K and blood smear shows no clumping of platelets. All other workup is normal (whatever candidate asked for, lupus, HIV, HepC, etc). She reprts a history of easy bruising and that her gums often bleed when brushing her teeth. She recalls 'a lot of bleeding" after she had a tooth extraction. What is your working diagnosis at this time?

ITP is most likely.

What are the risks in a preganncy of a women with chronic or acute hepatitis B infection?

If she has cirrhosis from chronic HBV there MAY BE and ASSOICATION w/ increased maternal and fetal death, GHTN, abruption, PTB, IUGR There has NOT been a link from infection with HGV alone with PTB, low birth weight or GDM

Sensitivity of cfDNA for Trisomy 21 is 99.2% How would you explain this to a patient?

If the baby does not have Trisomy 21, 99.2% of the time, the test will come back negative for Trisomy 21

What must be considered for a fetus born to a mother w/ Protein C or S deficiency?

If the baby ends up being homozygote, it could have neonatal purpura fulminans which would require lifetime anticoagulation.

Specificity of cfDNA for Trisomy 21 is 99.9%. How would you explain this to a patient?

If the baby has Trisomy 21, 99.9% of the time, the test will come back positive for Trisomy 21 The test is very reliable at detecting Trisomy 21 if the baby has it.

Hydrops fetalis (NIHF) Definition and DDx

Immune: - Alloimmunization Non-immune: - Infection (Parvo B19, CMV, toxo, syphilis, varicella) - Karyotypic (Turner's, T21, T13, T18) - Genetic syndrome (Noonan's, Myotonic dystrophy, etc...) - Structural abnormality (thoracic, lymphatic, skeletal dysplasia, GI, GU) - Anemia (hemorrhage, hemoglobinopathy (alpha thal major) - Arterial-Venous Malformation (chorioangioma, sacrococcgeal teratoma) - Arrhythmia - Inborn errors of metabolism

Robertsonian translocations

Important in cases involving chromosome 21 t(14,21) - 6 possible gametes - 3 will not lead to offspring <> Of 3 viable - normal, balanced, unbalanced (1/3) <> However, population studies - unbalanced 10-15% from mom and only a few percent from dad t(21,21) - If a parent has this balanced - 100% chance of trisomy 21

Odds Ratio (OR) vs Relative Risk (RR)

In discussing other studies, in a prospective cohort study (start with exposure), as with a cohort study, I can use OR (which will estimate the RR) or I can calculate the RR. The OR will always overestimate the RR. RR uses the incidence of disease ---------------------- A case control study would be starting with people who have a disease (OUTCOME) and retrospectively looking at which were exposed or not. Case control studies are good for rare diseases. Case control studies are considered observational as no intervention is made. FYI, case control studies only use ODDS ratios

What is incidence rate (and how is it different than prevalence)?

Incidence rate is the number of NEW cases in a unit of time. The incidence is like asking the risk of getting the disease (so it is new cases over a period of time divided by the total number of persons in that population being discussed in that time frame). Incidence is over a period of time. RATE. Think of 'incident report' being something NEW that JUST HAPPENED at that point in time. Example: 50 new cases of HIV diagnosed in 1 year study 800 people in high risk group studied in 1 year 50/800 = 0.063 = 6.3% The rate of HIV diagnosis in the high risk group studied in 1 year was 6.3% The risk of the studied population getting HIV was 6.5%

Incogtinentia Pigmenti

Incontinentia Pigmenti X-linked dominant

Case A 20y G1 at 30w presents with a rash on her arm and inguinal fold region bilaterally. She reports it is red and non-pruritic. The rash continues to spread to her abdomen (as pictured) despite treatment with high dose topical steroids. She also complains of nausea, vomiting, changes in her nails, hematuria, and fever. Biopsy of the lesions confirm Pustular Psoriasis of Pregnancy (aka impetigo herpetiformis). How do you counsel this patient regarding her pregnancy and treatment?

Increase risk of placental insufficiency, SAB, IUGR, IUFD; recommend serial growth USs and antenatal testing High dose IV steroids (prednisolone 80mg/d) and can taper, correct any calcium/electrolyte issues, consider antibiotics for skin coverage if needed. Can recur with OCPs and future pregnancies May have low serum Ca, urine w/ high WBC/protein/blood

Sickle cell anemia in pregnancy: adverse outcomes

Increased risk for: - More frequent sickle cell crises - Hypertensive disorders of pregnancy - Preterm labor - Abruption - Fetal growth restriction - Urinary tract infections - VTE - Transfusion - Pneumonia - Death

PUBS (percutaneous umbilical blood sampling)

Indications: - Fetal infections - Hemoglobinopathies - Fetal blood type and Rh - Oligohydramnios/anhydramnios Risks: - 1-3% fetal loss rate - Rate is right with compromised fetus (FGR, karotypic anomalies)

Parvovirus B19

Infection confirmed w/ maternal serology IgM(+), IgG(-) 1st half of pregnancy risk of fetal loss higher (11% vs <1%) Risk of anemia and hydrops greatest if infection before 20w <> If maternal infection confirmed, 3-4% risk overall of NIHF <> 50% of hydrops develops w/in 2-5 weeks of infection <> 93% will develop w/in 8 weeks Direct cytotoxic effect on RBC precursors Thrombocytopenia common May cause myocarditis In utero infection confirmed w/ Amniotic fluid PCR Weekly MCA Doppler and hydrops eval Continue surveillance 8-12 weeks Treatment is in utero transfusion if needed <> high fetal mortality if hydrops and NO transfusion <> I.e. transfusion improves outcomes

Congential adrenal hyperplasia (high yeild)

Inherited enzyme defect (>90% 21-hydroxylase deficiency Autosomal recessive disorder Adrenals cannot make cortisol => no negative feedback: adrenals cannot make aldosterone => electrolyte disturbances => hyponatremia & hyperkalemia CAH part of newborn screening Lab eval: - 17-OH progesterone increased - Low sodium (Na) and high potassium (K) Treatment: - Prenatal treatment: experimental - Tx: dexamethasone - prior to 9-10wks to prevent virilization until the fetal sex is determined - Need to discuss in some studies - potential side effects of medication vs condition - cognitive delay- learning disabilities NY Cornel Study: 84 fetuses w/ CAH - 23/25 female fetuses given - Reduced virilization

Acute hemolytic reaction: treatment

Initial supportive management: - Discontinue transfusion - Maintain airway, ventilatory support, O2 - Cardiovascular support, pressors - Bolus fluids to maintain BP and renal perfusion Initial anaphylaxis medical management - Epinephrine (1mg/mL) 0.3-0.5 mg IM - Albuterol 5mg/3mL NS NEB - Benadryl 50mg IV - Ranitidine 50mg IV - Methylprednisolone 125 mg IV

Ventilatory management for pregnant women Initial ventilator management: Mode: Rate: Tidal volume: PEEP: FiO2: Goals: PaO2: SaO2: PaCO2: FiO2

Initial ventilator management: Mode: SIMV w/ pressure support Rate: 14-16 breaths / minute Tidal volume: 6-10 mL/kG PEEP: 5 cm H2O FiO2: 1 Goals: PaO2: >60 mmHg SaO2: >95% PaCO2: 27-32 mmHg FiO2: <0.5

Case 27Y G2P1 presents at 32w w/ complaints of pruritic of her hands What is your initial workup? How do you counsel her regarding management at this time?

Initial workup: - H&P - CBC - BMP - LFTs - Bilirubin - Bile acids - Consider coagulation How do you counsel her regarding management at this time? Consider starting treatment while awaiting labs. Pending patient symptoms.

Forest plot: basic principles

Interpretation

Define the following types of data: - Interval - Ordinal - Nominal

Interval Interval data, also called an integer, is defined as a data type which is measured along a scale, in which each point is placed at equal distance from one another. Interval data always appears in the form of numbers or numerical values where the distance between the two points is standardized and equal. Interval data cannot be multiplied or divided, however, it can be added or subtracted. Interval data is measured on an interval scale. A simple example of interval data: The difference between 100 degrees Fahrenheit and 90 degrees Fahrenheit is the same as 60 degrees Fahrenheit and 70 degrees Fahrenheit. Ordinal Ordinal data is a statistical type of quantitative data in which variables exist in naturally occurring ordered categories. The distance between two categories is not established using ordinal data. Ordinal data is thus a collection of ordinal variables, i.e., if you have variables in a particular order - "low, medium, high", they can be represented as ordinal data. There are two important factors to consider for ordinal data - There are multiple terms that represent "order" such as "High, Higher, Highest" or "Satisfied, Dissatisfied, Extremely Dissatisfied". The difference between variables is not uniform. In statistics, a group of ordinal numbers indicates ordinal data and a group of ordinal data are represented using an ordinal scale. The main difference between nominal and ordinal data is that ordinal has an order of categories while nominal doesn't. To compare two ordinal data groups, the Mann-Whitney U test should be used. - This test allows a researcher to conclude that a variable from one sample is greater or lesser than another variable randomly selected from another sample. Nominal: In statistics, nominal data (also known as nominal scale) is a type of data that is used to label variables without providing any quantitative value. It is the simplest form of a scale of measure. Unlike ordinal data, nominal data cannot be ordered and cannot be measured. Dissimilar to interval or ratio data, nominal data cannot be manipulated using available mathematical operators. Thus, the only measure of central tendency for such data is the mode. Nominal data can be both qualitative and quantitative. However, the quantitative labels lack a numerical value or relationship (e.g., identification number). On the other hand, various types of qualitative data can be represented in nominal form. They may include words, letters, and symbols. Names of people, gender, and nationality are just a few of the most common examples of nominal data. Nominal data can be analyzed using the grouping method. The variables can be grouped together into categories, and for each category, the frequency or percentage can be calculated. The data can also be presented visually, such as by using a pie chart. Although nominal data cannot be treated using mathematical operators, they still can be analyzed using advanced statistical methods. For example, one way to analyze the data is through hypothesis testing. For nominal data, hypothesis testing can be carried out using nonparametric tests such as the chi-squared test. The chi-squared test aims to determine whether there is a significant difference between the expected frequency and the observed frequency of the given values.

Eisenmenger Syndrome

Intracardiac connections allowing mixing of oxygenated (left side) and less oxygenated (rt side) blood - VSD 33%, ASD 30%, PDA 14% - Only 10% of ASDs lead to ES; 50% of VSDs lead to ES Secondary pulmonary hypertension results form excess flow into the pulmonary circulation from chronic left-to-right (systemic-to-pulmonary) shunting If pulmonary >systemic pressure, flow across the shunt reverses to right-to-left Result: Decreased pulmonary perfusion, hypoxemia, and worsenign pulmonary hypertension ES = intracardiac shunt (RtoL) + Pulm vascular disease + cyanosis

Toxoplasmosis: US findings

Intracranial calcifications (not periventricular = CMV) Ventriculomegaly Echogenic bowel Intrahepatic calcifications

Case 27Y G1 presents at 32w w/ complaints of pruritis and rash that started on her upper extremities. On physical exam you notice excoriations of the patient's hands upper extremities. You note no rash on her abdomen. US is performed and the fetus is appropriately grown for the gestational age and no abnormal findings are noted. Labs return as follows: AST 75 u/L, ALT 66 u/L, total serum bile acids 52 micromol/L, WBC 12k, platelets 320k, total bilirubin 5 mg/dL. What is your working diagnosis at this time?

Intrahepatic cholestasis of pregnancy

Case 27Y G2P1 presents at 32w w/ complaints of pruritic of her hands. Labs return: AST 75 u/L, ALT 66u/L, total serum bile acids 52 micromol/L, WBC 12k, platelets 320k, total bilirubin 5 mg/dL. What is your working diagnosis at this time? How does this change your management of the pregnancy?

Intrahepatic cholestasis of pregnancy Cool showers, lotion after showers Medication: - Ursodiol 500mg po bid - Hydroxyzine (Vistaril) 25 mg q8hr prn pruritis - Diphenhydramine (Benadryl) prn Consider repeating labs Fetal kick counts Antenatal testing Serial fetal USs Follow-up laboratory at 35w Timing of delivery: 36w-37w0d

Opioid use disorders in pregnancy: intrapartum and postpartum concepts

Intrapartum management Offer epidural/spina (may need higher dosing), avoid narcotic agonist-antagonist medications (butorphanol, nalbuphine, pentazocine) as can lead to acute withdrawal Methadone or buprenorphine dosing should not change in labor (may need to split the dosing for more efficacy) Consider injectable NSAIDS (Toradol) and Tylenol Notify neonatology Postpartum management: Ok to breastfeed (less NAS, decreased neonate ospital days) regardless of dose (hardly any transfer into milk) No breastfeeding w/ codeine or tramadol (quick conversion to morphine bad for the baby); cautiously use medication that can decrease maternal respiratory effort (benzos, Ambien, or antihistamines like Benadryl) Contraception must be discussed.

Desire a study to determine if Tylenol increases the risk of peripartum cardiomyopathy? What questions doe we ask to decide which study design is best?

Is it a rare disease or does it have a long latency? - If yes: case-control Are you looking at more than one outcome? - if yes: case-control Is the exposure rare? - If yes: Cohort Are you looking at more than one outcome? - If yes: Cohort Answer: Best study would be a case-control

How to choose a study?

Is it a rare disease or does it have a long latency? -- If yes, case-control Are you looking at more than one exposure? -- If yes -- case-control Is the EXPOSURE rare? -- If yes: cohort Are you looking at more than one outcome? -- If yes: cohort

Intraoperative fetal monitoring for nonobstetric surgery: key questions

Is the fetus viable? Is monitoring feasible? (In abdominal surgery not feasible) What are the fetal risks from the procedure? Can you intervene to address an issue with the fetus? Are you willing to interrupt the surgery to delivery the fetus?

Aortic stenosis in pregnancy

Isolated: bicuspid valve (rheumatic origin usually invovles severeal valves) Stenotic valve leads to fixed cardiac output Mild disease: - valve area >1.5 cm2 - Peak gradient <50 mmHg Severe disease - valve area <1cm2 - Peak gradient >75 mmHg - Ejection fraction <55% Aortic stenosis complications - Excess flow: <> obstruction impedes flow across valve leading to pulmonary edema - Underperfusion/inadequate cardiac output <> Angina: due to decreased coronary perfusion <> Syncope: Due to poor cerebral perfusion <> Sudden death: Due to arrhythmias

What does AUC of 0.4 mean?

It means the test cannot distinguish between the 2 groups. that translates to a grade of F: the test does not work

Prevalence versus Incidence

Key phrases: - Prevalence is the probability of having ------- in the period of time evaluated (or in the population as a whole). - Incidence is the risk of getting -------- in those people that were at risk of getting --------. Population evaluating has 25,000 people. 16 known cases of PUPPS in that population 4 new cases diagnosed in 2017, so now a total of 20 <> The prevalence is the probability of having PUPPS in the population of 25,000 people. So, 20/25,000 = 0.0008 = 0.08%, or can express as a prevalence of 0.8/1,000 population. <> Incidence is the risk of getting PUPPS in those people that were at risk of getting PUPPS. There are 4 new cases (numerator) and the people at risk (denominator) is 25,000 -- 16, which is 24,984. So, 4/24984 = 0.00016 = 0.016% or 0.16/1,000 population.

What if you want to compare MEDIANS of more than 2 groups?

Kruskal Wallis

Likelihood ratios

LR's use the sensitivity and specificity of the test to determine whether a test result usefully changes the probability that a condition (such as a disease state) exists. + = Sn / (1-Sp) - = (1-Sn) / Sp

What happens to the oxygen-hemoglobin dissociation curve in the fetus compared to the that mother?

Leftward shift

Sepsis: definition

Life threatening organ dysfunction caused by a dysregulated host response to infection.

What is the definition of sepsis?

Life threatening organ dysfunction caused by a dysregulated host response to infection.

Power analysis: Type II error (beta)

Likelihood of not finding an effect when one exists = "false negative" Commonly preset at 0.2 - If an effect exists your study has an 80% chance of identifying it Understanding the concept is more important than the formula - (1-beta) - Wrongly failing to reject null hypothesis

What are the limitations of Chromosomal microarray (CMA)

Limitations of CMA: - Cannot detect truly BALANCED chromosomal rearrangements - Does not detect all cases of mosaicism - Does not detect point mutations or intragentic mutations (single gene mutations) copy number variant (CNV) or uncertain significance (<2%) Limitations specific to prenatal CMA: - Prenatal presentation and spectrum of anomalies associated with mutations is known disease genes is not always known. - Penetrance of known genetic defects when detected prenatally in "asymptomatic fetus" is no always known

Would you administer antibiotics to a non-surgical patient with an appendicitis?

Limited data in the pregnant population Reports of two pregnant pts that receive amp/gent/clinda, IVF, vowel rest, and improved over 3 days. One had appendectomy 2 mo after vaginal delivery and other at time of ob indicated cesarean. However, a letter to the editor reported cases of 2 maternal deaths after being discharged home after 'expectant management' w/ antibiotics and appearing to improve when in the hospital. Overall, recommendation for keeping in the hospital to monitor for maternal sepsis and preterm labor. "walled off preformation" treatment w/ antibiotics, and no surgery, is well supported in teh non-pregnant population. Some consider avoiding steroids for lung maturity and tocolytics to not suppress or mask an intraamniotc infection.

X-linked dominant disorders

Look similar to autosomal dominant with one exception!! NO Male to Male transmission

What are the low risk and high risk thrombophilia's according to ACOG

Low risk: FVL heterozygous Prothrombin G20210A heterozygous Protein C deficinecy Protein S deficiency High risk FVL homozygous Prothrombin G2021A homozygous Heterozygous for FVL/Prothrombin G20210A mutation ATIII deficiency

Congenital varicella syndrome

Low risk: 1-2% Infection earliter in pregnancy assoc. w/ higher risk for malformations: - limb anomalies - atrophy, hypoplasia - Skin scarring along dermatome - Neurologic: microcephaly, hydroephalus, seizures - Ocular: Chorioretinitis, cataracts, microphthalmos - GI abnormalities: atretic bowel - FGR/SGA Amniotic fluid VAV PCR confirms infection

What are the potential endocrine causes of recurrent pregnancy loss (6 major)?

Luteal phase defect - Remember there is a luteal phase and follicular phase - Decreased progesterone level-delayed endometrial maturation - Dx: short luteal phase (<13 days) - Tx: Progesterone supplementation Polycystic ovarian syndrome (PCOS) - Miscarriage rates w/o tx 30-50% - Tx: metformin - miscarriage rate 10% Hyperprolactinemia - Ovulatory dysfunction => luteal phase defect - Tx: bromocriptine/cabergoline decreases prolactin levels Poorly controlled diabetes - Direct relationship with SAB and HgbA1c Hypothyroidism Decreased ovarian reserve

Norepinephrine: - MOA - Uses - Effects

MOA: potent vasoconstrictor alpha1 and beta1 activity Uses: Initial vasopressor for septic, cardiogenic and hypovolemic shock Effects: SVR++; CO =/+

adult respiratory distress syndrome (ARDS)

MUST R/O CARDIOGENIC "not bottom up"

Cancer in pregnancy: General facts

Mammography - Diagnostic, detects microcalcifications (<0.01Gy), with abdominal shielding, litte risk to fetus Ultrasound: - High sensitivity and specificity - Distinguishes cystic from solid lesions - Standard exam for a palpable breast mass during pregnancy Optimal treatment necessitates adequate staging. Ionizing radiation - (x-ray) <0.01 Gy making staging possible - Risk of not stating is often greater than the potential harm to the fetus. Radiation - Controversial, successful radiotherapy and birth of healthy children have been reported. Local control of the disease and prevention of metastases The fetal dose increases as the pregnancy becomes more advanced, because of the increased proximity of the fetus to the primary irradiation field. Avoid delay in treatment unless 2-3 weeks from delivery. Breast surgery, all trimesters of pregnancy, carries minimal risk to the fetus. - Radical modified mastectomy - Breast consdrving surgery + axillary /SNL dissection

sickle cell crisis

Management sickle cell crisis: - Evaluate for potential underlying causes (dehydration, hypoxia, infection) - Depending on GA: fetal monitoring, steroids - IV hydration - Aggressive pain management w/ opioids - Hematologist consultation (oxygen, transfusion)

Mechanical heart valve in pregnancy: key risks

Maternal - Mechanical valves > bioprothetic valves - Thrombosis - anticoagulation complications - Heart failure - Endocarditis - Patients at greatest risk <> Prior TE <> Atrial fibrillation <> Mitral valve prolapse <> Older or multiple valves <> EF <30% Fetal - Coumadin embryopathy <> nasal hypoplasia <> epiphyseal stippling <> optic atrophy <> digital abnormalities <> mental impairment - 5-10% risk of anomalies - Risk lower (2-3%) if dose <5mg - 10% risk of late fetal loss

Fetal growth restriction: DDx

Maternal: - Medical conditions - Substance abuse - Teratogens Fetal - Multiple gestation - Infectious disease - Genetic conditions - Anomalies Placental - Abruption - Abnormal implantation

How do you counsel a patient with 1st or second degree heart block?

May resolve spontaneously, may progress to complete heart block Refer to pediatric cardiology May be a candidate for steroid therapy

What is diagnosis and DDx for microcytic anemia?

Mean cell volume (MCV) <80 Hgb < 11 g/dL DDx: - Iron deficiency - Hemoglobinopathy - Anemia of chronic disease or inflammation

What are the maternal cardiac conditions associated with WHO class 3 lesions?

Mechanical valve Systemic right ventricle Fontan circulation Cyanotic heart disease (unrepaired) Other complex congential heart disease Arotic dilation 40-45mm in Marfan syndrome Aortic dialtion 45-50mm in aortic disease assoicated with bicuspid aortic valve.

Fragile X syndrome

Most common inherited form of mental retardation X-linked recessive inheritance pattern Incidence 1/4000 males and 1/800 females. FMR1 gene CGG repeats Characteristic features: - Mental retardation / intellectual disability - Attention deficit (ADHD) / Autistic-like - Long, thin face-prominent forehead - Large prominent ears - Hypotonia - low muscle long and flexible joints - Enlarged testicles

Fetal heart block

Most common manifestation of neonatal lupus 2% of SSA positive Recurrence 16-18% if prior child w/ CHB Greatest risk CHB 18-24w (rare after 30w) Can develop in less than 1 week Causes myocarditis and destroys AV conduction fibers

Mitral stenosis in pregnancy

Most common rheumatic heart valve lesion Ventricular diastolic filling obstruction Cardiac output dependent on 3 factors <> Adequate diastolic filling time (rate) <> Preload (volume) <> Presence of atrial fibrillation Symptoms when valve area < 2cm2 (severe when valve area <1.5cm2) Complications <> Arrhythmias (atrial fibrillation) <> Thromboembolism <> Pulmonary edema <> Pulmonary hypertension <> Right heart failure Treatment - Beta blockers - Diuretics - Valvuloplasty if refractory

Locus heterogeneity

Mutations at different loci can produce a similar phenotype

Fetal and Neonatal Alloimmune Thrombocytopenia (FNAIT)

NAIT is a disorder resulting in fetal platelet destruction (thrombocytopenia) from maternal antibodies against fetal human platelet antigens (HPAs) inherited from the father. The diagnosis is suspected if a neonate is discovered to be thrombocytopenic <100,000 at birth or there is demonstration of an intracranial hemorrhage (ICH). The diagnosis is confirmed with fetal/neonatal thrombocytopenia PLUS identification of a paternal, fetal/neonatal platelet antigen with identification of Maternal antibodies to that specific antigen. The presence of HPA-1a antigen or a past history of child affect by an ICH predict a more severe thrombocytopenia. The evaluation for NAIT includes obtaining the maternal and paternal platelet antigen typing in addition to the maternal platelet HPA antibody status. The goal of management focuses on the prevention of ICH. The risk of ICH is approx. 10-30% and is considered one of the most serious complications. The risk of neonatal mortality from ICH is approx. 5-13%. Unlike rhesus disease, the antibodies may cross the placenta and cause severe fetal thrombocytopenia, even during the index pregnancy. The most significant complication of fetal and neonatal alloimmune thrombocytopenia is intracranial hemorrhage; the latter occurs in 10 to 20% of affected pregnancies, with 75% of these occurring before birth. The diagnosis is usually made after an unaffected pregnancy when either severe unexplained thrombocytopenia presents in a neonate, or fetal or neonatal intracranial hemorrhage is diagnosed in the presence of thrombocytopenia. Once the condition is suspected, confirmation of the diagnosis requires both demonstration of platelet specific antigen incompatibility between the parents or between the mother and the neonate, in the presence of maternal antibodies against the involved antigen. Because the majority of intracranial hemorrhages occurred before the onset of labor, treatment must be instituted antenatally to prevent them. The cornerstone of therapy has been maternal administration of steroids and intravenous immunoglobulin (IVIG).

Neonatal Abstinence Syndrome (NAS)

NAS is seen when the neonate shows hyperactivity of the central and autonomic nervous system. They are often with uncoordinated sucking reflex, poor feeding, and irritability. This can be seen in the first two weeks of life et usually within the first 72 hours. Neonatal opioid withdrawal syndrome (NOWS) is a specific form of NAS

Fluoresence in situ Hybridization (FISH)

NOT DIAGNOSTIC! Chromosome specific probes - Can be performed on non-dividing INTERPHASE cells wihtout prior cell culture or on metaphase spreads from dividing cells - Interphse FISH <> Quicker TAT (24-48h) <> Rapid detection of common aneuploidies Locus specific probes - Regions known to be duplicated or deleted in specific syndromes - Used with proband at increased risk for a particular syndrome based on clinical findings or family setting (i.e., del22q11 - but this misses 20% of 22q11.2 del)

CMV: Treatment

NOT RECOMMENDED FOR BOARDs Antiviral therapies and CMV specific hyperimmune globulin not recommended outside of research protocol. Serial US assessments.

Pemphigoid Gestationis (Herpes Gestationis)

NOT herpes!! A form of herpetiform vesicular blisters, autoimmune, pruritus then lesions, usually 2nd to 3rd trimester or postpartum; rash starts on trunk as plaques/papules surrounding umbilicus, can see vesicles, lesions can be on palms/soles (rarely face/mucous membranes), spreads rapidly and forms bullae. Course [] 75% flare pp, 25% flare w/ OCPs or menses, usually spontaneously resolve wk-mo after delivery; often recurs w/ pregnancies Diagnosis: [] Skin biopsy (see eosinophilic infiltrate, basal cell necrosis, edema of dermal papillae, on immunofluoresence C3 is pathognomonic To differentiate from PUPPS, this one is TRULY periumbilical Treatment: [] Mild-high potency topical steroids OR non-sedating oral antihistamines; no not recommend topical antihistamines as are not effective and can induced allergic response; commonly need IV steroids (prednisone 0.5mg/kg/d), or PO (20-40mg/d) and taper down Outcome: [] Mild placental insufficiency, IUGR, prematurity; approx 5% neonates w/ eruptions, minimal risk of adrenal suppression; mother at increased risk of Grave's dz bc often have anti-thyroid antibodies.

Case 26Y G3P2002 at 12w presents to triage with RUQ pain that began 2 hours after a large meal. She rates her pain 9/10 that radiates to her back Exam shows RUQ tenderness, positive Murphy's sign. Vital signs BP 128/77, HR 90 bpm, T 100.8. WBC 17k w/ a mild left shift, no bands, amylase and lipase normal. AST 11, ALT 18, Cr. 0.4, total/direct/indirect bilirubin normal. UA w/ mild ketones. RUQ US shows no gallbladder wall thickening, multiple small gallstones, normal size common bile duct. What is your current treatment plan?

NPO Meds; - anti-nausea - Pain - IV fluids Antibiotics - (required w/ acute cholecystitis or cholangitis) - Piperacillin/tazobactam (Zosyn) - Ampicillin/Sulbactam (Unasyn) - Ceftriaxone (Rocephin) 1 g q24h + metronidazole 500 mg q8h; clinda if PCN allergic

Negative predictive value (NPV)

NPV is the probability that if the test is negative the subject actually does not have disease NPV incorporates prevalence of disease, so decreases with prevalence NPV: D/D+C = True negative / True negative + False negative Example: If the NPV of a blood test for depression is 90%. How do you explain this to the patient? - NPV is the probability that if the test is negative, the subject actually does not have the disease - NPV (90%) is the probability that if the blood test was negative that they actually do not have depression - Of those people who test negative (denominator), 90% actually do not have depression (numerator) - NPV: D/D+C = True negative / True negative + False negative

How would you explain the concept of Negative Predictive Value (NPV)?

NPV tells you how likely it is for someone with a negative test (screen negative) to not have the disease (true negative) It answers the questions "I tested negative. Does this mean I definitely don't have the disease?"

How do you counsel a patient with an NT >3.5mm?

NT >99th percentile (?3.5mm) assoc. w/ poor pregnancy outcomes: - Miscarriage - Chromosomal abnormalities - Genetic syndromes - Anatomic abnormalities - IUFD - Developmental delay If the fetus has normal karytype/array/Noonan, a normal anatomy US and fetal echo and resoluation of the increased NT, 95% will have a normal outcome.

What is the difference tetween getting a hepatitis B infection as a neonate versus an adult?

Neonatal/perinatal infection carries a higher risk of chronic infection and long term disease risk 90% of exposed infants will get chronic HBV infection if they are not immunoprophylaxed

Neurofibromatosis

Neurofibromatosis Male and females are affected Each generation affected There is male to male transmission (Therefore x-linked dominant is not possible)

What is the associated risk of pregnancy for WHO class 1 lesions?

No detectable increased risk of maternal mortality and no/mild increase risk of morbidity.

Describe the benefit of magnesium sulfate in the context of fetal neuroprogection

No documented benefit in neonatal survival Risk of moderate to severe cerebral palsy decreased by approximately 50%

Peripartum cardiomyopathy (PPCM): Delivery issues

No evidence o that cesarean is beneficial Regional anesthesia acceptable - Reduces preload and afterload - Controls pain - Reduces cardiac work Consider assisted vaginal delivery Delivery timing base on clinical condition.

47 XXY: Klinefelter syndrome

No in utero US findings Taller than average height Reduced facial hair Reduced body hair Breast development Osteoporosis Feminine fat distribution Small testes (testicular atrophy)

What is anticoagulation NOT recommended during prengancy?

No prior VTE, no thrombophilia No prior VTE, low risk thrombophilia 1 prior provided VTE, no thrombophilia

Case 26Y G3P2002 at 12w presents to triage with RUQ pain that began 2 hours after a large meal. She rtes her pain 9/10 that radiates to her back What is you DDx? What is your workup?

Non-OB: Cholecystitis Gallstone pancreatitis Appendicitis Choleangitis Pyelonephritis nephrolithiasis Hepatitis OB Placental abruption PTL Uterine rupture Acute fatty liver Intraamniotic infection Work-up - H&P - Labs: CBC, CMP, amylase, lipase, urinalysis - RUQ ultrasound - Consider placing an IV - Control pain management - Fetal ultrasound

Monosomy X / Turner Syndrome

Not associated with AMA 75-90% end in SAB in uero-monosomy X Postnatal-Turner sndrome US findings: - Cystic hygroma - Non-immune hydrops - CV anomalies: coarctation, HLHS - GU-horseshoe kidneys - Edema hands/feet - Mild IUGR

Mechanical PR interval

Note the biphasic mitral inflow, with passive early inflow (E wave) followed by atrial contraction (A wave). Each mitral inflow pattern is followed by a single outflow. A, Atrial contraction; E, early passive filling; V, ventricular contraction.

Types of chromosomal abnormalities

Numerical: - Aneuploidy - Polyploidy Structural: - Translocations - Inversions - Deletions - Duplications - Rings - Isochromosomes

Case control details

Observational data - cofounders, confounders, confounder -"There is an association between autism (outcome) and acetaminophen use in pregnancy (exposure)" - Whey were there women taking tylenol? - Association and causation are NOT the same. - Retrospective (you have to know the otucome first) <> bias in recording, recall - allow you to calculate OR - Use STROBE guidelines for publication

Beckwith Weidmann Syndrome

Omphalocele and macroglossia = Beckwith Weidmann Syndrome - 4-5% of IVF pregnancies vs (<1% general population) - Potentially related to epigenetic changes with embryos in media (methylation changes) - Chromosome 11-changed methylation (Growth genes: CDKN1C, H19, IGF2, KCNQ1OT1) - 20% cases- uniparental disomy (UPD) - 2 active paternal copies

What if you want to compare means of more than 2 groups?

One way ANOVA (analysis of variance) Less important to know: A 2 way ANOVA compares 2 independent variables (categorical) on a dependent variable (continuous) Example: Compare effect of fetal gender and ethnicity of GA at delivery

Opioid use disorders (OUD): Key concepts

Opioid use disorder (OUD) is now the preferred term no longer opioid abuse or opioid dependence), and is defined by 11 main symptoms w/ severity of the disorder being based on recurring symptoms (tolerance, cravings, not able to control use) over a year Buprenorphine is a partial agonist (not a full agonist) and thus overdoing on the medication is less likely. Other benefits over methadone are fewer drug interactions and less need for dose adjusting through the pregnancy I am aware that there is a combined product of buprenorphine + naloxone (opioid antagonist)), brand same suboxone, that when used orally does not cause withdrawal symptoms but does cause symptoms if injected, thus decreasing diversion Opioids work by binding to opioid receptors located in the brain and produce a sensation of pleasure; they can cause respiratory depression which can lead to respiratory arrest and death. Withdrawal symptoms: drug cravings, anxiety, abdominal cramping, nausea, insomnia, diarrhea, sweating, runny nose/eyes, pulls dilated, irritability. Can manage symptoms with adjusted methadone doses as needed. Given the metabolism of methadone, split doses in a day are often preferred over daily dosing. Heroin is the most rapidly acting opioid and is highly addictive. It can be injected, smoked, or nasally inhaled. It has a short halflife and thus its use can be seen frequently. Untreated heroin use in pregnancy is associated with an increased risk of IUGR, placental abruption, IUFD, preterm labor, and intrauterine fetal meconium passage. There may be a small increased risk of birth defects associated with opioid use. I would not use naloxone (short acting opioid antagonist) to attempt to diagnose opioid dependence in pregnancy as it can lead to withdrawals and could cause preterm labor or fetal distress. Naloxone should be used on in case of maternal overdose as a life saving attempt (IV, SQ, nasal) long term studies on child up to five years of age that were exposed to methadone in utero did not show significant cognitive differences

What is the treatment for iron deficiency anemia?

Oral: [] Recommended dose for IDA tx: 150-200 mg/day elemental iron, given in 2-3 doses (ferrous sulfate 65mg elemental iron; mg) [] Check response in 2-3 weeks IV Iron: [] Iron dextran - Max FDA- approved single dose = 100mg (black box warning) - Single infusion 1000mg (test dose 25 mg then 975mg) Are the two iron dextran products interchangeable? No, the two products are not interchangeable. High molecular weight iron dextran (HMWID) is associated with more anaphylaxis and infusion reactions and has subsequently been discontinued. -Low Molecular Weight Iron Dextran (LMWID) is formulary at Kaiser. [] Iron sucrose - Max FDA-approved single dose for adults = 200 mg - 5 doses of 200mg q week

P/F ratio: Definition

P/F ratio determines degree of intrapulmonary shunt (PaO2/FiO2) x 100 = P/F ratio PaO2 determined by an ABG FiO2 is supplemental oxygen Normal person: (100mmHg/21%) x 100 = 476 In ARDS the P/F ratio is <300, indicating severe difficulty delivery oxygen - Mild ARDS: P/F 200-300 w/ PEEP or CPAP ≥5mmHg - Moderate ARDS: P/F 100-200 w/ PEEP ≥5mmHg - Severe ARDS: P/F ≤100 w/ PEEP ≥5mmHg Higher numbers reflect better oxygenation

How do we test of trinucleotide repeat conditions?

PCR to look for the size Southern blot analysis: Methylation status Methylation testing: Methylation status

What are the different types of preimplantation genetic testing and what do they test for?

PGT-Monogenic: - is targeted to single gene disorders. PGT-Structural rearrangement: - Used to test embryos that are at risk of chromosome gains and losses related to parental structural chromosomal abnormalities (eg, translocations, inversions, deletions, and insertions). PGT-Aneuploidy (inconclusive to use in all infertile women per ASRM): - Is a broader test that screens for aneuploidy in all chromosomes, including the 22 pairs of autosomes and the sex chromosomes X and Y.

26Y G1 presents at 20w0d with complaints of leaking clear fluid. Rupture membranes are confirmed. How do you counsel the patient?

PPROM <24w is associated with pulmonary hypoplasia 10-20% of the time and 50% will delivery in the 1st week, 80% in the following 2 to 5 weeks. Additionally, - Patient counseling for expectant management or IOL - Can be outpatient until 23w0d - Antenatal corticosteroids as early as 23w0d - Latency abx: consider as early as 20w0d. - GBS: No GBS prophylaxis until viability - Magnesium at 23w0d or 24w0d. Review Practice Bulletin 217

Positive predictive value (PPV)

PPV is the probability that if the test is positive teh subject actually has the disease PPV incorporates prevalence of disease, so increases w/ prevalence PPV: A / A+B = True Positive / True positive + False Positive Example: If the PPV of a blood test for depression is 20%. How do you explain this to the patient? - PPV is the probability that if the test is positive, the subject actually has the disease - PPV (20%) is the probability that if the blood test was positive that they actually have depression - Of those who test positive (denominator), only 20% actually have depression (numerator). - PPV: A/A+V = true positive / all testing postiive

How would you explain the concept of Positive Predictive Value (PPV)?

PPV tells you how likely it is for someone with a positive test (screen positive) to actually have the disease (true positive). It answers the question, "My test is positive. Does this mean I definitely have the disease?"

Percutaneous Umbilical Blood Sampling (PUBS)

PUBS can directly determine fetal hematocrit Pregnancy loss rate approx 1-2% Can correct hydrops in 24-48 hours Spares end organ damage and death If Hgb <30% - Fetal transfusion w/ fresh, O(-), washed, CMV negative, Leukoreduced, irradiated blood

Hydrops: prognosis

Perinatal mortality: 50-98% Earlier diagnosis carries higher mortality rate Survival in premature fetus w/ nonimmune hydrops is poor, regardless of etiology Therefore delivery should postponed as long as possible.

How do you counsel a patient with complete heart block?

Permanent condition Fetus at risk for heart failure, hydrops, demise, although most will do well Neonate may require pacing Antenatal testing: Weekly hydrops check s and BPPs at viability (cannot do NSTs) Timing of delivery: Term unless hydrops or heart failure develops Route of delivery: Cesarean (unable to monitor)

What are the major thrombotic risk factors for VTE?

Personal history of VTE 1st degree relative w/ h/o VTE Obesity Prolonged immobilization Cesarean delivery

Sickle cell anemia: Review

Point mutation in beta globin gene, leads to formation of sickle hemoglobin Autosomal recessive condition Primary issues: - Acute and/or chronic pain - Tissue ischemia - Splenic infarction and immune compromise Sickle Cell anemia and pregnancy Increase risks of: - Sickle cell crisis - HTN disease - PTL - FGR - VTE - Transfusion - Urinary tract infections - Abruption - Death Management sickle cell crisis: - Evaluate for potential underlying causes (dehydration, hypoxia, infection) - Depending on GA: fetal monitoring, steroids - IV hydration - Aggressive pain management w/ opioids

How do you counsel a patient with fetal Arnold chiari II malformation?

Possibility of in-utero surgery - MOMS trial* - Babies who had in-utero repair had decrease shunt placement, reduced severity in motor and sensory disfuction - risk of in-utero surgery: abruption, rupture, uterine rupture Route of delivery - vaginal vs cesarean Preventative treatment - folate 4mg per day Prognosis - Worse if higher and larger Recurrence - 1-2% Counseling: - Concern for seizures, shunt, bladder/bowel dysfunction, inability to walk w/ hindbrain herniation - Offer termination of pregnancy - Treatable defect: In-utero vs post-natal repair

Case 27Y G1 presents at 32w w/ complaints of pruritis and rash that started on her upper extremities. What is your DDx?

Case A 20y G1 at 30w presents with a rash on her arm and inguinal fold region bilaterally. She reports it is red and non-pruritic. A region of her arm is as below (see picture). What is your DDx? What is your plan of management?

Pregnancy causes: [] Intrahepatic cholestasis in pregnancy [] Pruritic urticarial papules and palques of pregnancy (PUPPS). [] atopic eruption of pregnancy (eczema, prurigo, pruritic folliculitis) [] Pustular psoriasis of pregnancy Non-pregnancy causes [] Impetigo [] Herpetic lesions [] Varicella [] Contact dermatitis [] Scabies, Folliculitis [] Drug reaction Plan of management: [] Consider topical steroid [] Counsel on cooling baths [] Referral to Dermatology for possible skin bx [] Labs (consider): CBC, serum calcium, electrolytes, ESR, urinalysis

20y G2P1001 at 27w presents with left sided flank pain. She reports that it is colicky in nature. She has no fever, chills, nausea, or emesis. What is your DDx? What labs/imaging do you order?

Pregnancy causes: PTL Contractions ligament pain Non-pregnancy causes Nephrolithiasis Pyelonephritis urinary tract infection Appendicitis Pneumonia Labs/Imaging: CBC, CMP, UV (w/ reflex); consdier CXR or flu swab Ultrasound KUB (Kidneys, urtere, bladder plain film) Noncontract low dose helical CT is 1st line in nonpregnant pt, and can be done 2-3 trimester if needed MRI has advantage of no rediation exposure.

How do you counsel a women for preconception who has HIV?

Prepregnancy management of persons with HIV (SMFM Checklist 2020) - Discuss ways to safely become pregnant - Ensure an undetectable HIV viral load prior to attempting conception - Ensure combined antiretroviral therapy (cART) agents are appropriate for use during pregnancy - Laboratory testing: [ ] HIV viral load [ ] CD4 T-lymphocyte cell count [ ] Antiretroviral drug resistance (genotype) panel [ ] G6PD and HLA-B* 5701 [ ] Toxoplasmosis immunity [ ] Hepatitis B surface antigen, hepatitis B surface antibody [ ] Hepatitis A total antibody [ ] Hepatitis C antibody [ ] Tuberculosis screening (PPD skin test or quantiferon) - Ensure vaccines are up to date (pneumococcal,hepatitis B, hepatitis A, flue, MMR, varicella, HPV, tDAP). Consult CDC for HIV-specific vaccine recommendations: cdc.gov/vaccines/adults/rec-vac/health-conditions/hiv.html - Optimize comorbidities (smoking cessation, treatment for opiate use disorders, treatment for viral hepatitis [B or C], management of diabetes, hypertension, cervical HPV). - Discuss disclosure of patient's HIV status to her partner [ ] Offer partner(s) testing and referral to infectious Disease if indicated [ ] Discuss PrEP [ ] Ensure partner's vaccines are up to date

What is a prevalence rate?

Prevalence is a SNAPSHOT in time It is telling you the proportion of cases in a population (for example, how widespread the disease is). It is the probability of having said disease at a certain point in time Good for measuring chronic disease in a specified population Basic prevalence: Total cases / population Point prevalence: proportion of a population at a certain point in time (1.1.2011) Period prevalence: proportion of a population during a timeframe (2014-2016, over 2 years) Lifetime prevalence: proportion of a population that at some point in their lives had/experienced the disease/condition

Addison's Disease

Primary adrenal insufficiency Watch for Addisonian crisis - Presents similar to an acute abdomen with pain, n/v, shock - labs show hyponatremia, hyperkalemia, hypoglycemia, and plasma cortisol is low. Treatment: - IV hydrocortisone until stable, then PO hydrocortisone/fludrocortisone replacement

Fetal or Neonatal Alloimmune Thrombocytopenia

Prior affected child but no history of fetal or neonatal ICH - 20w: IVIG 2g/kg/wk or IVIG 1g/kg/wk + Prednisone 0.5 mg/kg/d - 32w: all pts switch to IVIG 2g/kg/wk + prednisone 0.5mg/kg/d - Plan Cesarean at 37-38w (extreme risk may delivery at 36-37w) Prior fetus or neonate with ICH - 12w: beging IVIG 1g/kg/wk - 20w: IVIG 1g/kg/wk + prednisone 0.5 mg/kg/d OR increase IVIG to 2g/kg/wk - 28w: IVIG 2g/kg/wk + 0.5 mg/kg/d - Plan Cesarean at 37-38w (extreme risk may deliver at 36-37w) *** Cordocentesis for platelet count largely abandoned due to risk

Trisomy 18

Prominent occiput Clench fists, overlapping digits Strawberry-shaped heaad small, lwo set ears Shortened limbs, clubbed feet, rockerbottom feet Single umbilical artery, umbilical cord cysts Omphalocele Cardiac defects Spina bifida Esophageal atresia

DDAVP (desmopressin)

Promotes vWF being release from endothelial cells Can give IV, SQ (not in U.S.), intranasal (trial before treat) - IV see 3-5 fold increase of vWF and fator VIII in an hour, keeps levels for up to 12 hours - Nasal is 150 mcg Side effects: Low K+ (antidiuretic), tachyphylaxis, flushing and headache (due to vasodilation), variations in BP Consider for type 1 and 2 ONLY (as no response with Type 3)

Pulmonary hypertension

Pulmonary artery systolic pressure >25 mmHg at rest - Normal = 8-20 mmHg Diagnosis requires right heart catheterization of pulmonary artery - If findings consistent with sufficient left-sided heart disease to explain PH, no additional work up needed. Treatment approach: - Diuretics (avoid decreased cardiac output) - Oxygen - Anticoagulation - Digoxin (controls HR and improves LV function) - Exercise training - Treatment related to the underlying cause -

Peripartum cardiomyopathy (PPCM): Complications

Pulmonary edema Arrhythmias Thromboembolism Cardiac arrest

What are the potential risks of tocolysis?

Pulmonary edema Hypotension ARDS

What are the benefits of antenatal corticosteroids?

RDS IVH NEC Mortality

How do you counsel a patient with early onset fetal growth restriction

RECOMMEND amniocentesis

Interpreting receiver operative characteristics (ROC) curves

ROC Curve shows you how well a test can distinguish between those with and without the disease in question. Accuracy is measured by the area under the ROC curve (AUC) - An area of 1 represents a perfect test - An area of 0.5 represents a worthless test A rough guide for classifying the accuracy of a diagnostic test is the traditional grading system: - 0.90-1.0 = excellent (A) - 0.8-0.9 = good (B) - 0.7-0.8 = fair (C) - 0.6-0.7 = poor (D) - 0.5-0.6 = fail (F) What does AUC of 0.75 mean? What does AUC of 0.4 mean?

What is a Cohort study?

Retrospective or Prospective EXPOSURES (start with exposure) defined from beginning - Groups should be the same except for exposure Group 1: with exposure Group 2: without exposure Look back at outcomes/diseases to see if there is a difference in outcomes/diseases Reported as Relative Risk (RR) ***Example picture is a prospective Cohort** *** You start with what is rare when designing a study, If the exposure is rare then you perform a Cohort***

What is the significance of reverse flow in the ductus venosus?

Reverse flow indicates right heart failure and imminent demise (within one week) Only perform the ductus venosus Doppler when there is reversal of the umbilical artery Doppler (helps you evaluate for timing of potential demise)

What are risks factors and clinical signs of uterine rupture?

Risk factors - Prior uterine surgery (CS, myomectomy) - Obstructed labor - High parity Clinical signs: - Loss of station - Poor FHTs - Bleeding

Case: 20 y G1 presents at 20w w/ limited prenatal care. She has been taking dilantin (phenytoin) for the past 4 years. No seizure activity until 2 weeks ago (grand mal witnessed by her mother). How do you counsel the patient?

Risks of IUGR, microcephaly cardiac defects, hypoplastic nails, phalanges, craniofacial abnormalities Full syndrome in <15% and some part of syndroem in 30%

Nonobstetric surgery counseling during pregnancy

Risks of surgery lower than risks of not doing surgery Primary risks related to anesthesia, bleeding, infection. Fetal risk are very low. Risk of PRL very low although contractions are common.

HSV management in pregnancy

Routine screening NOT recommended Proper treatment: - Acute: if a suspsecte dprimary otubreak is in the 3rd trimester, medication can be continued until delivery - Prophylaxis: start at/beyond 36w; dosing is higher than in the non-pregnatn given increased GFR Cesarean when indicated: - Active genital lesions - Prodromal GENITAL symptoms - Offer if firts known outbreak in the 3rd triemser or recurrent outbreak in the 3rd trimester HSV w/ preterm labor rupture of membranes - "No consensus" - Give antiviral therapy if expectanly management - No contraindication to CVS or amniocentesis

Complications of untreated HYPERthyroidism

SAB Preterm labor Low birth weight Stillbirth Preeclampsia Heart failure

What are the criteria for SEVERE preeclampisa?

SBP ≥160 of DBP ≥110 mmHg Thrombocytopenia: Plt <100,000 Renal insufficiency - Cr >1.1 mg/dL - Doubling of serum creatinine - No other renal disease Impaired liver function: Doubling of AST and/or ALT Pulmonary edema Cerebral or visual symptoms

Who should be screened for SSA seropositivitiy?

SLE Sjogren's disease Rheumatoid arthritis Mixed connective tissue disorder Prior child with neonatal lupus or congenital heart block

Reporting bias

Subjects in one group more likely to report prior events than in the other group.

Sensitivity

Sensitivity is the proportion of patients with the disease/condition (denominatory that had a positive/exposure (numerator) Of those who have the disease, those that tested positive Sensitivity is the true positive rate Sensitivity...pts are SENSITIVE about a history of PID - Sensitivity = Positive in Disease - A/A-C - True positive / True positive + False negative Example If the sensitivity of detecting club foot via US is 65%, how do you explain this to the patient? - Sensitivity = true positive / all those with disease - Of all the fetuses born with clubfoot (denominator), 65% were noted on prenatal ultrasound (numerator - True positive rate of 65%

How would you explain the concept of sensitivity?

Sensitivity measures how good a test is at detecting whether the patient really has a condition or not. (True positive rate) A sensitivity test helps rule OUT a disease when the test is negative *** Hihgly SeNsitive = SNOUT = rule out*** Example: Sensitivity of cfDNA for T21 is 99.2% How would you explain this to a patient?

How do you explain sensitivity and specificity to a person?

Sensitivity: if it is there it will be detected Tells us if you have the diseases (80% sensitivity means we're sure that the test will detect (true positive) the presence of the disease in 80% of the patients, and the 20% may have a false negative results "they have the disease and the test didn't detect it) Here we miss some patient with the disease untreated Specificity : if it not there it will refute it Tells us if you don't have the disease (90% specificity means we're sure that 90% of the tested people are disease free. The remaining 10% means the tested people don't have the disease yet the results says that they do, which is false positive) Here we will treat someone without the disease

What is septic shock?

Sepsis w/ persistent hypotension requiring vasopressors maintain MAP >65 mmHg Lactate level > 2mmol/L despite adequate fluid resuscitation

Septic shock: definition

Sepsis with persistent hypotension requiring vasopressors to maintain MAP >65 mmHg Lactate level >2 mmol/L despite adequate fluid resuscitation

She decides to proceed with chemotherapy, can you discuss her best options? - Cyclophosphamide and doxorubicin +/- 5FU - Dose same as in the non-pregnant patient - AFI can decrease and must be watched closely (particular w/ chemo geared toward HER-2 positive cancers) How do you counsel her regarding her prognosis? - Stage for stage considered equivalent to the non-pregnant patient. - I would look up the stages to discuss prognosis w/ her (and she could discuss w/ the Oncologist in further detail)

Power analysis: Significance level (alpha)

Significant level = alpha = type 1 error = "False positive" Probability of finding and effect that is not there Showing that there is a difference in my study when in reality there is not Alpha typically 0.05 = 5% (predetermined) = is the likelihood of a type 1 error P value 0.05 means 5% chance results are due to chance - 5% change of "false positive" result - 5% change of finding an effect when one does not exists

What is the associated risk of pregnancy for WHO class 3 lesions?

Significantly increased risk of maternal mortality or severe morbidity. Expert counseling required. If pregnancy is decided upon, intensive specialist cardiac and obstetric monitoring needed throughout pregnancy, childbirth and the peurperium.

What is the associated risk of pregnancy for WHO class 2 lesions?

Small increased risk of maternal mortality or moderate increase in morbidity.

Hepatitis B serology interpretation

Specifically look at past infection, recovered immune

Treatment for ARDS

Supportive Treat the underlying cause

Specificity

Specificity is the proportion of patients without the disease/condition (denominator) that had a negative test/exposure (numerator) Specificity is the true negative rate Specificity...The NIH has SPECIFIC requirements - Specificity - Negative in Health - D/B+D Example: If the specificity of a blood test to evaluate for maternal risk of preeclampsia is 45%, what does this mean? - Specificity: D/B+D = (True negative / all without dz) - The specificity is the proportion of pts w/o preeclampsia that had a negative blood test. - Of all the patients without preeclampsia (denominator), 45% had a negative blood test (numerator) - The true negative rate is 45% - This would not be a good screening test

How would you explain the concept of sensitivity?

Specificity measures how reliable a negative test is for patients who do not have the investigated condition (True negative rate) A test with high specificity means that it reallys rules in a diagnosis if the test is positive Highly SPecific = SPIN = rule in Example: Specificity of cfDNA for Trisomy 21 is 99.9%

What are indications for delivery in a septic patient?

Standard OB indications Intrauterine infection DIC Hepatic failure Renal failure Cardiac arrest Fails to respond to therapy Severe ARDS Fetal demise Gestational age low risk for neonatal complications Maternal condition expected to improve with delivery Never take an unstable mother for fetal heart tones

Serum screening interpretation: uE3: extremely low (<0.15 MoM)

Steroid sulfatase deficiency (X-linked ichthyosis) OR Smith-Lemli-Opitz syndrome

Subclinical hypothyroidism

Subclinical hypothyroidism (SCH) is defined as an elevated TSH in the setting for a normal free thyroxine (fT4) level. Current recommendations from the American College of Obstetricians and Gynecologists (ACOG) states that there is no evidence that the identification and treatment of SCH during pregnancy improves neonatal developmental or obstetrical outcomes (ACOG PB148 2015). There is data from the American Society for Reproductive Medicine (ASRM) that the identification and treatment of subclinical hypothyroidism may improve miscarriage and pregnancy rates when the TSH is >4 mIU/L. In patients with anti-TPO antibodies and a TSH >2.5 mIU/L, ASRM suggests that treatment may improve miscarriage and infertility rates. In patients with a TSH level between 2.5-4.0 mIU/L, ASRM states that there is insufficiency evidence that treatment improves pregnancy and miscarriage rates. Acknowledging that this evidence is limited, ASRM recommends treating SCH in the first trimester when the TSH is >2.5 mIU/L due to minimal risk to the patient in this clinical setting. (ASRM Practice Committee Guideline 2015).

Recall bias

Subjects in one group more likely to remember pas events than in the other group (see in the case group in a case-control study)

Varicella; acute infection in pregnancy

Supportive care, isolation Oral acyclovir (800mg 5x/d) decreases disease severity and duration - start on first day of illness - Does not prevent congenital varicella syndrome Hospitalize for IV acyclovir if varicella pneumonia - High mortality, improved w/ treatment Treatment is for maternal, NOT fetal benefit

Postdural puncture headache

Symmetrical frontal / occipital. Postural Generally starts at least 24hrs after dural puncture (exception is BIG needle hole) Not all HA after delivery / spinal are PDPH. DDx: - Lactation HA - Migraine - Subdural hematoma - Brain tumor - AVM - Cortical vein thrombosis - dural sinus thrombosis Tx: Caffeine, fluids, salt, analgesics Epidural blood patch (EBP): 10-30mL of patient's blood injected into epidural space.

Tuberculosis (TB)

Symptoms: Cough, fever, SOB, sweating, wt loss Evaluation: Sputum culture Treatment: INH, rifampin, pyrazinamide, ethambutol Latent TB: Positive TB test w/o symptoms and negative CXR Gets treated with INH Evaluate for HIV co-infection Do not breastfeed w/ active/untreated TB (typically can start 2 weeks after therapy started. Who do you screen? Those at high risk, such as HIV, contact with TB(+) person, medical risk factors, born in TB high risk place, low income, alcoholics, IV drug users, those who are in jail or mental health hospitals. BCG vaccine If they received bacillus Calmette-Guerin (BCG) vaccine they will likely have a (+)PPD; reactivity wanes over time so still use PPD if 10yr out, and 10mm considered infected with TB. What do you do if the pt has (+) PPD in the 1st trimester? [] Treat as below, order CXR after 1st trimester looking for adenopathy, multinodular infiltrates, cavitation, loss of volume in upper lobes, upper medial retraction of hilar markings seen in active TB [] Assess sputum for acid-fast bacilli in early a.m. to confirm diagnosis Treatment [ ] (+) PPD w/ normal CXR Resp sxn: check 3 morning suputs or workup for extrapulmonary TB <> (+) workup: immediate 3 durg tx (INH 300mg/d, rifampin 600mg/d, ethambutol 2.5g/d) for 6 months <> (-) workup: If 35 or less, treat pp w/ INH 300mg/d + B6 50mg/d for 6-9 months No Resp sxn: <> High risk or converted w/in 2yr: antepartum INH 300 mg/d starting after 1st trimester until 6-9 months pp + B6 50mg/d to prevent peripheral neuropathy <> Old conversion >2yr or 1st PPD(+): if 35 or younger, treat postpartum with INH 300 mg/d + B6 50mg/d for 6-9 months [] (+) PPD w/ abnormal CXR or other e/o active dz (sxns), check 3 morning sputums <> (+) workup: immediate 3 drug tx (INH, Rifampin, ?ethambutol) for 6 months <> (-) workup: if 35 or younger, treat postpartum w/ INH 300mg/d and B6 50 mg/d for 6-9 mo Miscellanous: [] Do not tx women >35 w/ low risk given high risk of INH causing hepatotoxicity [] On INH, 10-20% will have elevated LFTs that will resolve when discontinued [] Other meds: Ethambutol (teratogenic in animals, optic neuritis in mom), streptomycin (not use as crania nerve 8 damage in neonates [] Mom can breastfeed if only she is on meds (and baby gets MV w/ B6); if her and baby on meds can be too much [] Baby of mom on TB meds needs PPD at birth and again at 3 mo [] Baby of mom w/ active TB gets INH prophylaxis at 10mg/kg/d until mom is inactive (x3) months via negative sputum cultures.

Myocaridal infarction in pregnancy

Symptoms: Chest pain and SOB Diagnosis: - Ischemic symptoms - Abnormal EKG: <> New Q waves <> Significant ST-segment-T wave changes <> New left bundle branch block <> Elevated troponin Postpone delivery 2-3 weeks, if possible Minimize cardiac workload - Epidural anesthesia - Supplemental oxygen - Left lateral position - Treatment of hypertension - Treatment of tachycardia

Negative Predictive Value (NPV)

TN / (TN + FN)

Positive Predictive Value (PPV)

TP/(TP+FP)

Prevalence = total people w/ disease divided by total people we are looking at

Table demonstrated that a change in prevalence affects PPV and NPV, but does NOT change sensitivity and specificity

Case 42Y G6P3023 at 11w presents to your office for consultation given a history of stroke 2 years ago. She si currently taking Plavix 75mg, aspirin 81mg, and atorvastin 40mg daily. She is also MTFHR homozygote for the C677T mutation. She had 3 prior uncomplicated vaginal deliveries over 10 years ago. Labs return with a notably low Protein C and Protein S (on prior requested labs when no pregnant or on anticoagulation). Other inherited thrombophilias labs were normal. Negative workup for antiphospholipid syndrome. Records show 50% stenosis of her right internal carotid artery What is your initial work up for this patient?

Targeted History and physical, specifically asking if the pt has ever been told to be on lifelong anticoagulation, if she has a neurologist, and if she has any family members with a history of VTE Discuss workup for inherited thrombophilia's and APLS Consider baseline coagulation studies and CBC Consider imaging of the brain if felt indicated Request any records needed.

How do you define cervical insufficiency?

The American College of Obstetricians and Gynecologists defines cervical insufficiency as "the inability of the uterine cervix to retain a pregnancy in the second trimester in the absence of clinical contractions, labor, or both" The classic obstetric history of women with structural cervical weakness leading to recurrent cervical insufficiency is characterized by recurrent second-trimester pregnancy losses/deliveries that were associated with no or minimal mild symptoms, often before 24 weeks of gestation, and then were found to have cervical dilation and effacement on physical examination that was unexpected based on their mild symptoms. The duration from recognition of symptoms to delivery may have been extremely short, and successive pregnancies may have been associated with progressively earlier delivery.

Confidence interval (CI)

The CI is used to tell us an estimation of the precision of the OR. If the CI is large then there is low precision of the OR. If the CI is small then there is higher precision of the OR. The 95% CI DOES NOT report statistical significance; it is just an estimate of statistical significance and often is used to state that there is statistical significance if the CI does not cross the null value, which is 1 (ie: OR = 1 means no change in affect). BUT, we cannot say that just bc it crosses the null, or 1, that the information is NOT w/ an association between the exposure and outcome.

Number needed to treat (NNT)

The NNT is 1 divided by prevalence. This is useful when discussing 'prevalence' and how it can be important when discussing/designing a study, etc. In other words, the reciprocal of the NNT estimates the prevalence. The NNT tells me the number of people that would need to be screened to then detect one case that could be treated The NNT is how much of whatever diagnosis or treatment (that is being studied) is needed to diagnose/prevent 1 disease (case) The change in the NNT can help as well. If I was presented with two prevalence values, I could take 1 divided by the difference between the prevalence values and this would give me the change of NNT due to a due treatment or a new procedure, for example. I can also calculate the number needed to benefit (NNB) which is the number needed to be treated/diagnosed with the studied/ said procedure/treatment to then obtain one more successful outcome.

Terbtaline

The beta-adrenergic receptor agonist (terbutaline) can be administered as 0.25mg SQ q20-30min up to 4x, then 0.25 SQ q3-4h I would hold this medication if the maternal HR is >120 bpm I would NOT administer it to a mom w/ hypotension, tremor, palpitations, SOB, chest pain, pulmonary edema, hypokalemia, hyperglycemia, poorly controlled diabetes, longstanding HTN, cardiac disease, hyperthyroidism, arrhythmias, or myocardial ischemia; I would not administer if fetal tachycardia is noted I am aware that I can see tachyphylaxis (reduced resonse w/ prolonged exposure), therfore, I typically do not use the medicaion beyond 48-72 hours. FDA warning in 2011: possible behavioral effects in kids later with long term use; I DO NOT use PO terbutaline as it can result in maternal heart problems and death.

NPV of cfDNA for Trisomy 21 is 21%. How would you explain this to a patient?

The probability that the baby does not have Trisomy 21 is 21%

PPV of cfDNA for Trisomy 21 is 79%. How would you explain this to a patient?

The probability that the baby has Trisomy 21 is 79%

What are some limitations to case control studies?

There can be risk to bias as collection is retrospective They compare the 'prevalence of exposure to a potential risk factor' between cases and controls.

Case 26Y G1 presents at 30w1d with complaints of leaking clear fluid. Rupture membranes are confirmed. The patient has concern for labor and is GBS unknown. She has a history of anaphylaxis to PCN. How does this alter your treatment plan?

There is a low risk allergy, can use 1st gen cephalosporin (cefazolin) If a high risk PCN allergy then recommend clindamycin (only if GBS isolate has shown to be susceptible to clinda) I will use vancomycin (based on wt and renal function, dosing at 20mg/kg IV q8h, mas single dose 2gm) if there is no info on clindamycin isolate testing or or testing shows not susceptible to clinda) When appropriate, skin allery testing against PCN is safe to perform in pregnancy

Is testing for protein S deficincy in pregnancy reliable?

This is the only test that is not considered reliable in pregnancy as the levels fluctuate in pregnancy There are cutoffs for each trimester 1st (55%) 2nd (30%) 3rd (34%)

Case 27Y G1 at 22w with ITP presents to the hospital in spontaneous labor at 38w. Her CBC shows a platelet count of 45K. How do you counsel her about her plan for delivery?

Threshold for treatment: Goal for pregnancy is to aim for a platelet count >30,000 throughout pregnancy and >80,000 - 100,000 near term to allow for neuraxial anesthesia. A platelet count of >50,000 cells/uL is goal for pursing a safe cesarean section. She is not able to receive an epidural w/ platelet that low If she has to have a cesarean, my goal would be to have her platelets above 50k Discuss w/ her that with ITP, her platelets have normal function If she experiences bleeding or if surgery is needed, she would need treatment to increase her platelets

Idiopathic Thrombocytopenic Purpura (ITP)

Threshold for treatment: Goal for pregnancy is to aim for a platelet count >30,000 throughout pregnancy and >80,000 - 100,000 near term to allow for neuraxial anesthesia. A platelet count of >50,000 cells/uL is goal for pursing a safe cesarean section. Treatment options when threshold is reached: (1st choice) Prednisone (0.5 - 2.0 mg/kg/d or a therapeutic equivalent). If the platelet count improves, the steroid dose can be tapered by 10-20% per week until the lowest dosage required to maintain the platelet count is reached. Improvement usually occurs within 3-7d and reaches a max within 2-3w. (Refractory cases) IVIG (1000mg/kg/d for 2-5days) is reserved for cases refractor to steroids or severe thrombocytopenia (<10,000 or <30,000 in a bleeding patient). (Acute correction) Platelet transfusions (8-10 packs) are utilized as a temporary measure to control life-threatening bleeding or to prepare for surgery. (Rare refractory cases) Splenectomy in pregnancy is reserved for platelets <10,000 cells/uL who are bleeding and are refractory to IVIG and steroids *** Rh(D) immune globulin 75mcg/kg if RhD+ for life threatening situations or immunosuppressant like azathioprine

What is the evaluation of a thyroid mass in prengancy?

Thyroid radionuclide scanning is contraindicated during pregnancy. The indications for fine-needle aspiration (FNA) biopsy of the nodule are the same as in nonpregnant patients FNA is safe to perform during pregnancy. However, if there is no evidence of nodular growth, concerning ultrasound features (eg, extension beyond the thyroid or extension adjacent to the trachea or recurrent laryngeal nerve), or development of cervical lymph nodes during the period of observation, many endocrinologists defer FNA until after pregnancy. If surgery is required during pregnancy, the optimal timing is the second trimester. Therefore, the timing of a follow-up ultrasound to assess growth of the nodule should be mid-second trimester if the nodule was first noted in early pregnancy. If the nodule was first noted in later pregnancy, follow-up ultrasound can be deferred to the postpartum period. In most observational studies, thyroid cancer discovered during pregnancy does not significantly impact the prognosis

Varicella

Transmission through respiratroy droplets; highly contagious Pts infectious 1-2 days before lesions until all lesions crusted (6-10days) Assoc. w/ severe complications in pregnancy - Pneumonia 20% - encephalitis - Liver dysfunction - Myocarditis H/o chicken pox is a reliable predictor of immunity >80% of pts w/ no or uncertain history are immune Pregnant women exposed to varicella shoudl be tested for immunity (IgG+) If IgG(-), give Varizig w/in 10 days of exposure. - 90% effective in preventing severe maternal disease - Unknown impact on perinatal transmission

Neonatal varicella

Transplacental varicella infection Greatest risk to neonate if mom develops rash 5 days before or 2 days after delivery - No protective maternal IgG - Neonatal symptoms 5-10 days Treatment with Varizig, isolate - Prevents 50% of neonatal cases and reduces disease severity

Chemotherapy and breast cancer

Trastuzumab (Herceptin): - Monoclonal Ab against the human epidermal growth factor receptor 2 protein (HER-2) - Cases of in utero exposure (few) -- Assoc. w/ oligo- or anhydramnios: Possibly, the presence of the HER-2 protein in the fetal renal-tubule epithelial cells ( and not in adult kidneys) can explain a decreased function. -- Delivery of a healthy baby -- Altered renal function and unknown long-term impact in the offspring suggest limiting the use of trastuzumamb during pregnancy -- HER-2 appears to be critical to neural and cardiac development.

Recurrent pregnancy loss: counseling and management

Treatment dependent on results of work-up No cause found in 50-75% Prognosis overall is fairly good - 70-75% of those diagnosed with unexplained RPL with ultimately achieve a successful pregnancy

Serum screening interpretation: AFP: decreased uE3: decreased HCG: decreased Inhibin: decreased

Trisomy 18 AND Trisomy 13: - Low estriol, AFP, HCG, inhibin

Serum screening interpretation: AFP: decreased uE3: decreased HCG: increased Inhibin: increased

Trisomy 21 - Low estriol and AFP - High HCG and inhibin

High yield aneuploidy chromosomal abnormalities

Trisomy 21 Trisomy 18 Trisomy 13 Turner syndrome (45, X) Klinefelter (47, XXY) Triploidy (69, XXX, XXY, XYY)

What is the DDx for a cystic hygroma? (5)

Trisomy 21 (37%)*** 45 X (28%) Trisomy 18 (19%) Trisomy 13 (9%) Triploidy (4.5%) Other (1.5%) ***abnormal Karyotype in approx 50% of cystic hygromas and 33% will have structural anomalies

Multicystic dysplastic kidney

US Findings: - Mulitple non-communicating renal cysts, loss of reniform shape, increased size - Variably sized csts: they do not connect - very little renal tissue - Renal tissue - Renal parenchyma echogenic - Large kidneys DDx: - Ureteropelvic junction (UPJ) obstruction - Obstructive cystic dysplasia - Dilated urtery - ARPCKD Evaluation: - Detailed (level II) US. Determine if isolated or not. If oligo or ascoutics suboptimal can consider MRI for better eval - Non-isolated => genetic counseling - Genetic testing - Serial USs: assess AFV, watch cysts sizes over time, assess contralateral kidney Clinical considerations: - Incidence: 1:1000 unilateral, 1:5000 bilateral - Affected kidney non-functioning, involutes, routine nephrectomy not performed. - Bilateral 20% w/ grim prognosis, contralateral renal anomaly in less than half, non-renal anomaly in 5% - MCKD / assoc anomalies: Genetic counseling <> Meckle-Gruber syndrome: Classic triad of renal cystic dysplasia, encephalocele, post-axial polydactyly. Genetic heterogenous lethal (oligo/anhydramnios)cilipathy - Autosomal recessive <> Trisomy 13: HPE classic finding <> Trisomy 18

Caudal regression sequence

US findings - Abrupt termination fo spine - Short trunk, LE contractures - GU anomalies are common DDx: - Myelomeningocele - VACTREL assoication - Sirenomelia Evaluation: - Detailed (level II) US - Fetal echocardiogram - Fetal MRI - Offer termination - Consult pediatric urology and ortho Clinical considerations: - 200x more common in diabetic mothers - High mortality w/ assoc. anomalies - Neurogenic bladder is common - Motor > sensory deficits

Trisomy 13

US findings - CHD with VSD - Holoprosencephaly - Overlapping fingers - Midline defects dysplastic or malformed ears

Congenital Pulmonary Airway Malformation (CPAM)

US findings Complex (macrocystic) vs solid (microcystic) Pulmonary venous drainage Lung mass / arterial supply from pulmonary artery DDx: Bronchopulmonary sequestration (BPS): aortic/systemic arterial supply CPAM Congenital diaphragmatic hernia CPAM + BPS hybrid lesion Major parental clinical issues CPAM volume ratio (CVR): (LxWxDx0.52)/HC - CVR <1.2: weekly CVR measurements, screening for hydrops and early signs of cardiac failure (tricuspid regurg, DV, hydramnios). - CVR 1.2-1.6: Twice-per-week for CVR measurement, screening for hydrops and early signs of cardiac failure (tricuspid regurg, DV, hydramnios). - CVR >1.6: 2-3x/week for DVR measurement, screening for hydrops and early signs of cardiac failure (tricuspid regurg, DV, hydramnios). - Steroids: CVR values of <1.6 in the absence of a large cyst suggest the risk of developing fetal hydrops is low. A CVR >1.6 OR a CPAM with a dominant large cyst (>1/3rd of the size of the CPAM) has an increased risk of development fetal hydrops and medical therapy with administration of antenatal corticosteroids is recommended regardless of the gestational age. - Greatest growth: 20-26w - Frequent (weekly or a2w during rapid growth) - Consider betamethasone for CVR >1.4 - Hydrops is most important predictor of outcome - Postnatal: resect bc of infection/malignancy - An Isolated CPAM does not necessitate a genetic evaluation. Multiple anomalies merits further evaluation with a genetic amniocentesis. - Fetal echocardiography - Referral to a pediatric cardiothoracic surgeon and neonatology. - A referral for consideration for invasive fetal therapy

Tetralogy of Fallot (TOF)

US findings: - Overriding aorta - Pulmonary hypoplasia/stenosis - VSD - Right ventricular hypertrophy DDx: - Pulmonary artery atresia w/ VSD - Double outlet right ventricle - Isolated perimembranous VSD Evaluation - Detailed (level II ) US - Fetal echocardiogram - Genetics consultation - Genetic testing (Aneuploidy, 22q11, PKU, DM, etc..) - Pediatric cardiology consult / NICU Clinical considerations: - Excellent prognosis if normal genetics >98% survival - Counseling: offter termination if w/ genetic syndrome / multiple anomalies - 95% of 4Ch views appear normal

Hypoplastic left heart syndrome

US findings: - LV small or nonexistent on 4Ch view - RV dilated - Regrograde filling of aortic arch DDx: - Severe aortic stenosis - Coarctation of aorta - Shone syndrome - MV/AV stenosis, supravalvular aortic stenosis Evaluation - Detailed US - Fetal echo - Referral genetic counseling - Amniocentesis (microarray) - Pediatric Cardiology referral - Offer termination

Ambiguous genitalia (concern for disorder of sexual development)

US findings: - Labioscrotal folds present and potential clitoromegaly vs small phallus - Cannot determine sex despite adquate visualization - axial/sag planes - Look with 3D: Better define morphology Evaluation: - Detailed (Level II) US - Genetics consultation - Genetic testing (amnio; cfDNA as 2nd line) <> FISH (SRY chromosome) <> Microarray <> 7-Dehydroxycholesterol (Smith-Lemli Opitz) <> 21 hydroxylase (CAH) ***MOST COMMON CAUSE*** AR disorder <>*** consider saying "i'll send our gene sequencing panel for ambiguous genitalia) - Fetal MRI (look for uterus and ovaries) DDx (for disorder of sexual development) - Medications - Virilizing tumor - Congenital adrenal hyperplasia - Genetic abnormality (Smith Lemli Opitz) - see table Clinical considerations: - Treatment postnatally: Major considerations: <> R/o life-threatening processes <> Determine sex for rearing and identity <> Plan for surgery if necessary <> Plan for normal pubertal development and fertility if possible <> Provider genetic counseling - Complete physician exam for other abnormalities: <> Electrolytes <> glucose <> Cholesterol (SLO) <> Chromosome analysis <> abdominal US

Omphaolcele

US findings: - Liver in vs out - >50% risk assoc. anomalies Evaluation: - Detailed (level II) US - Fetal echocardiogram - Genetic counseling - Genetic testing (microarray consider methylation testing) - Pediatric surgeon Clinical considerations: - High risk for aneuploidy/genetic syndrome (Think T18 or T13) <> T18 accounts for up to 75% of aneuploidy <> T13 accounts for up to 24% of aneuploidy <> Beckwidth-Widemann: macrosomia, macroglossia, polyhydramnios, organomegaly. Imprinted disorder on chromosome 11. - Cardiac anomalies seen in up to 36% cases - Poor outcomes seen as usually assoc. w/ other conditions

Sacrococcygeal teratoma

US findings: - Mass off of the sacrum - Mixed cystic and solid components - Color Doppler to evaluation vascularity - Neoplasm derived from all three cell layers. DDx: - Scrococcygeal teratoma - Myelomeningocele - Other tumors Evaluation: - Detailed US - Fetal MRI - Calcuation of tumor volume:fetal weight ratio (TFR) <> TRF = tumor vol (LxWxDx0.523)/(fetal wt) <> TFR = >0.12 before 24 weeks concern for poor prognosis - Cystic better than solid - Vascularity of tumor: AV shunting => high-output failure => hydrops - Genetics: mostly sporadic (amnio not contraindicated) Clinical considerations: - Can develop polyhydramnios - Cesarean section in preferred for larger tumors (>5cm) bleeding risk - Surveillance for signs of CV compromise, monitoring of tumor size - Large, solid vascular tumors are worst prognsis - Prognosis worse <> fetal diagnosis: 30-50% mortality <> Hydrops: once present almost universally fatal <> Better outcomes with cystic tumors

Congenital Diaphragmatic Hernia (CDH)

US findings: - Stomach in chest - Deviation of heart - 80-90% of cases left-sided - 85% contain liver DDx: - CPAM - BPS Evaluations: - Lung head ratio (LHR): area of contralateral lung / HC (trace method more accurate) <> <1 high M&M, 1.0-1.4 ECMO, >1.4 better prognosis, use O/E ratio to correct for GA. - Fetal echo - Fetal MRI (practice dependent) - Serial USs. - Referral genetic counseling - Genetic testing: amniocentesis (microarray) <> 40-50% w/ CV abnormality, genetic abnormality common <> Syndromes: Fryns, Pallister-killian, Cornelia de Lange, Donnai-barrow Clinical considerations: - Liver is up - poorer prognosis - LHR <1 - higher M&M - pulm hypoplasia - Delivery at tertiary care center - Fetal therapy considerations <> FETO trial ongoing <> EXIT for poor prognosis group?

When is an MRI indicated in the evaluation of PAS?

Unable to adequately visualize uteroplacental interface (obese) Suspected percreta

Chorionic villus sampling (CVS): transABDOMINAL contraindications

Unavoidable myomas Posterior placenta Unavoidable maternal intestines

What components do you talk about when discussing the concept of risk?

Understanding risk - Prevalence - Incidence Assessing risk - Odds ratio - Relative risk Interpreting the risk assessment - Confidence interval

What are the most common etiologies of recurrent pregnancy loss?

Unexplained (40-50%) Endocrine (17-20%) Autoimmune (20%) Anatomic factors (10-15%) Genetic factors (2-5%) - Monosomy or Trisomy

Odds ratio (OR)

Use w/ case-control or cohort study Overestimates the RR Overestimates the RR Odds of exposure in cases / odds of exposure in controls Odds of exposure in those with disease (A/C) odds of exposure in those without disease (B/D). - (A/C) / (B/D) = AD / CB OR of 1: the risk is equal in both groups (case or control) OR less than 1: exposure has lower odds - Exposure is less likely to lead to the outcome/disease - Exposure decreases risk OR greater than 1: Exposure has higher odds - Exposure is more likely to lead to the outcome/disease - Exposure increases risk

Relative risk (RR)

Use w/ cohort only Incidence of disease in those exposed [A/(A+B)] compared to incidence of disease in those not exposed [C/(C+D)] [A/(A+B)] / [C/(C+D)] RR of 1: no associated RR of 2: double the risk RR of 0.5: half the risk The RR can be important as I can then calculate the relative risk reduction (RRR), which is 1-RR. I can also calculate the attributable relative risk (ARR), which compares risk of exposure - incidence of dz in non-exposed - incidence of dx in exposed - (C/C+D) - (A/A+B) Once the ARR is calculated, I can take 1/ARR which helps clinically to give me the number needed to treat (NNT). If more controls have a poor outcome, then I can see an increase in ARR and thus a decrease in NNT.

Indirect coombs test

Used to detect circulating antibodies in patient's blood against RBCs

How do you explain an Odds Ratio?

Used w/ case-control studies -- Odds in intervention group -- Odds in control group OR <1: Intervention is better than control Example: -- New medication is being compared to placebo for PTB. -- Odds of PTB in medication group 0.4 -- Odds of PTB in placebo group 0.8 -- Therefore OR 0.5 An odds ratio tells you whether the odds in the intervention group are higher or lower than controls

Relative Risk

Used with cohort studies Need to know PREVALENCE in order to estimate risk (which is why you cannot use it with a case-control study) Cannot determined prevalence with case-control studies Interpreted same as odds ratio.

Sample size and Effect size

Usually solving for sample size Effect size must be determined from the literature If you have a false negative result, you can do a post-hoc power analysis which solves for sample size and uses the effect size observed in your study.

How do you delivery a patient in DIC?

Vaginal (avoid CS if able) Delivery planned in OR due to high likelihood of massive hemorrhage and DIC Preparations for uterine atony

Delivery considerations in patients with maternal cardiac disease

Vaginal delivery at term is default approach for all cardiac pts w/ CD for usual OB indications. All cardiac pts may have neuraxial anesthesia Possible exceptions for vaginal delivery at term: - Margan syndrome w/ aorta >4.5cm - Eisenmenger syndrome - Severe aortic stenosis - Severe heart failure Possible exceptions for neuraxial anesthesia: - Any pt who cannot tolerate decreased SVR - Eisenmenger sndrome - Severe aortic stenosis Intrapartum cardiac monitoring only necessary if a history of or new onset arrhythmias.

Draw out a sensitivity, specificity, PPV, NPV table. Take care to show where teh disease and test/exposure are written.

Vertical comparison: - Sensitivity: A / A+C = TP / TP + FN - Specificity: B / B+D = TN / TN+ FP Horizontal comparison: - PPV: A / A+B = TP / TP + FP - NPV: D / C+D = TN / TN + FN

What are some scenarios in which you would place an abdominal (cervicoisthmic) cerclage?

We perform a transabdominal cervicoisthmic cerclage in women with cervical insufficiency who have either - Failed at least one previous prophylactic transvaginal cerclage or - in whom a transvaginal cerclage is technically impossible to perform due to an extremely short or absent cervix, amputated cervix, marked cervical scarring, or cervical defect.

37Y G1 at 39w presetns to L&D w/ a clear outbreak of chicken pox. How do you counsel and treat her?

We would discuss the risk of neonatal varicella, which can occur when mom gets varicella 5 days before up to 2 days after delivery This 7d window does not allow protective antibodies to cross the placenta Infants born during this time have to avoid contact with mom's lesions Treat with antiviral therapy VZIG (varicella zoster immune globulin) - IM , i vial per 10kg (max 5 vials) OR Acyclovir 800mg po 5x/d for 7 days OR Valcyclovir 1000mg po TID x 7d

Case 27Y G1 presents at 32w w/ complaints of pruritis and rash that started on her upper extremities. On physical exam you notice excoriations of the patient's hands upper extremities. You note no rash on her abdomen. US is performed and the fetus is appropriately grown for the gestational age and no abnormal findings are noted. What do you want to know further from the patient at this time? What labs do you want to send?

What do you want to know further from the patient at this time? [] H/o OCP use, H/o Family members having cholestasis? What labs do you want to send? [] LFTs [] Bile acid [] CBC [] Consider coags (PT/INR, aPTT, fibrinogen) [] Bilirubin

Explain the meaning of this statistic OR 0.5 (95% CI 0.3-0.6), p < 0.03

What does this mean? The odds of PRB in medication group are 50% less than placebo group. The CI does not cross 1 so there is a difference between the groups. The true population effect lies between 70% and 40% decrease in PTB. P-value is <0.05 so this difference is significant

Case 18y G1 at 12w2d is referred for anemia. Her hemoglobin is 8.2 w a hct of 27.3. The MCV is 72. Her lab results show normal iron studies. Hgb electrophoresis HgbA 0%, HgbS 95%, HgbA2 3%, HgbF 2% What does this represent? What is your next step in management for the patient?

What does this represent? Sickle cell anemia (homozygote) No Hgb A, High (80%+ HbS), and <3.5% of HbA2. When you get >3.5% HgbA2 you are dealing with betal thalassemia, or some mixing form of it What is your next step in management for the patient? Hematology referral Hgb electrophoresis for FOB w/ genetics consult Goals H/H Urine culture monthly Monthly CBCs

Case 37Y G1 presents at 12w. She reports palpating a painless lump in her left breast and some intermittent nipple discharge. What is you initial workup? What is your DDx?

What is you initial workup? - H&P - Imaging: US/Mammography. Possible MRI - Key is not to delay diagnosis (1mo dxnd elay increases risk of nodal involvement). - Biopsy (Gold standard) What is your DDx? - Benign: Lactating adenoma, fibroadenoma, ductal epithelium/lobular hyperplasia, galactocele, other cystic disease - Malignant: Most common is infiltrating ductal adenocardinoma, ductal, lobular

Case 18y G1 at 12w2d is referred for anemia. Her hemoglobin is 8.2 w a hct of 27.3. The MCV is 72. What is your DDx? What is your initial workup?

What is your DDx? Iron deficiency anemia Thalassemia (alpha or beta) Sickle cell disease Sideroblastic anemia Lead poisoning What is your initial workup? H&P (bleeding history, FHx) Lab: - Repeat CBC - Ferritin (*** tells you stored iron >30 normal, <30 iron deficient. Downside is that it is an acute phase reactant, therefore, in an acutely ill pt it could be falsely elevated) - TIBC - Transferrin - Serum iron - Possible coagulation studies (maybe not) - Hgb electrophoresis

Case A 35Y G2P1 at 32w presents to triage complaining of flu symptoms. Inital VS: BP 100/60, P 114, RR 18, T38.2, Sat 90% Exam: Lungs: CTAB HT: RRR Abd: gravid, soft, tenderness in upper abdomen, no rebound. Bilateral CVA tenderness R>L. Laboratory returns: WBC 13,000 w/ 1% bands Hgb 12.1 Plt 244,000 sCr 1.2 Electrolytes normal Lactate 2.8 UA: +nit, +LE, bact, +WBC What is your diagnosis?

What is your diagnosis: - Pyelonephritis - Sepsis (meets criteria for sepsis given infection with evidence of end-organ dysfunction) Elevated lactate indicates poor perfusion Increased creatinine concerning for renal dysfunction

Case 18y G1 at 17w5d presents to the office for platelets of 66. Repeat CBC returns w a platelet count of 88k and blood smear shows no clumping of platelets. All other workuo is normal (whever the candidate asked for; lupus, HIV, HepC, etc). She reports a history of heavy periods requiring blood transfusions and a sister who had the same issues. She also thinks her aunt had some blood issue and was always bruising. She reports in herself easy bruising and that her gums often bleed when brushing her teeth. She recalls ' al ot of bleeding' after she had a tooth extracted. The patient's vWF level returns at 20%. What is your diagnosis? What is our next step in management?

What is your diagnosis? von Willebrand disease What is our next step in management? (in your mind think what do I want to do antepartum and how would I manage her in labor, can answer either way, usually start with AP management) [] Antepartum - Obtain baseline Factor VIII and von Willebrand Factor and vWF restocetin cofactro activity levels and repeat each trimester and a week before delivery (assuming it requires 1 week for results). - Maintain Factor VIII and vWF ristocetin cofactor activity levels at least 50 IU/dL prior to vaginal delivery 100% for cesarean section andat least 3-5 days afterward. - Refer to Hematology for co-management - Perform genetic consultation - Counsel to avoid antiplatelet drugs and IM injections [] Intrapartum period - Aim for vWF ristocetin cofactor activity levels as listed above - Obtain Anesthesia consultation and alter the pt that regional anesthesia can be considered if vWF and Factor VIII levels are maintained above 50 IU/dL - Plan to administer DDAVP intranasally (elicits the release of vWF from endothelial cells, can be used emergently or preoperatively IV - Plan to have Factor 8 and vWF concentratiosn if the pt does not respond to DDAVP. - Monitor Factor 8 levels for 7 days post-op cesarean section adn maintain the level greater than 25% - Avoid an episiotomy and deep injectino of local anesthesia if possible. - Again, avoid antiplatelet drugs - Avoid fetal scalp electrode unless necessary and assume that the fetus could also be affected by von Willebrand disease. Avoid circumcision of the newborn male infant until von Willebrand disease is ruled.

37Y G1 presents at 28w. She reports palpating a painless lump in her left breast and some intermittent nipple discharge. The diagnosis of breast cancer has been made for this patient. She decides to proceed with chemotherapy. The patient finishes her thired chemotherapy cycle at 34w. Her Oncologist plans for 7 total cycles. What is your ideal plan for delivery in this G1 w/ a cephalic fetus? What are risk factors associated w/ chemotherapy in pregnancy? What are risk factors associated with radiation?

What is your ideal plan for delivery in this G1 w/ a cephalic fetus? - Ideally deliver should occur 3 weeks after the last cycle of chemo to allow the bone marrow to recover and hence the WVC to not be too low What are risk factors associated w/ chemotherapy in pregnancy? - Miscarriage, fetal hematologic suppression, FGR, oligohydramnios, premature delivery, anomalies (most in 1st trimester) What are risk factors associated with radiation? - Miscarriage (early 1st tri), congenital anomalies (eye, skeletal, genitalia) in 1st tri, cognitive delay, microcephaly.

What is your initial work-up? H&P Lab: CBC, CMP, UA (reflex culture), lipase, lactate, flu swap Fetal monitoring: CFEM (initially) Imaging: abdominal US, CXR, OB US

Case 27Y G1 at 22w with ITP presents to clinic at 28w. You send routine CBC and the platelet count returns at 25K. The patient is asymptomatic (recall she is a G1). What is your plan at this time? She tells you she is allergic to prednisone. What is your next option?

What is your plan at this time? - Involve Hematology - Consider steroid treatment She tells you she is allergic to prednisone. What is your next option? - Hematology to manage IVIG

Case If a patient with breast cancer during pregnancy decides to start chemotherapy at 28w. What is your plan for fetal assessment during this time? Regarding delivery, is anything different?

What is your plan for fetal assessment during this time? - I would perform serial growth USs and antenatal testing (remember fluid level issues?) Regarding delivery, is anything different? - I would send the placenta to pathology to evaluate for any possible placental metastasis. Depending on the timing of her last chemo cycle, that could help guide management. I would attempt to schedule IOL around this time, as necessary, given the possible changes to the mother's blood counts. Watch neonate closely for every 6 months over the following 2 years

Umbilical artery Doppler: How to perform?

Where to sample? - Umbilicus - SMFM - Free loop - ISUOG - Placental insertion Indices tend to be higher at the placental end Standardization of sampling site is important when following fetuses serially Color flow and gain adjusted to scale Gate adjusted to include only UA Angle of intonation kept to low to maximize both systolic and diastolic flow (better accuracy of Doppler)

Case 18y G1 at 17w5d presents to the office for platelets of 66. Repeat CBC returns w a platelet count of 88k and blood smear shows no clumping of platelets. All other workuo is normal (whever the candidate asked for; lupus, HIV, HepC, etc). She reports a history of heavy periods requiring blood transfusions and a sister who had the same issues. She also thinks her aunt had some blood issue and was always bruising. She reports in herself easy bruising and that her gums often bleed when brushing her teeth. She recalls ' al ot of bleeding' after she had a tooth extracted. What is your working diagnosis at this time? What labs would you like to order at this time?

What is your working diagnosis at this time? ITP Hemophilia's - vWD - Factor 8 - congenital - Factor 9- congenital - Factor 7-acquired - SLE What labs would you like to order at this time? - I would assess further for hemophilia riks given teh FHx an dpersonal hx provided. - Factor 8 (assessing for hemophila A) - Factor 9 (assessing for hemophilia B) - Factor 7 (considered congenital) - Von Willebrand factor, vWF ristocetin cofactor activity level.

Design a study to determine if maternal mortality is higher in women with multiple gestations

What questions do we ask to decide which study design is best? Is it a rare disease or does it have a long latency? - If yes: case-control Are you looking at more than one outcome? - if yes: case-control Is the exposure rare? - If yes: Cohort Are you looking at more than one outcome? - If yes: Cohort Answer: Best study would be a case-control

Design a study to determine if Polymorphic Eruption of Pregnancy (PEP aka PUPPS) syndrome is associated w/ fetal growth restriction.

Study example: you have been tasked w/ creating a study. You plan to enroll people who have the diagnosis of lupus and you want to see if they have every been exposed to Medicine X. - What type of study is this that you will be performing? - How will you express your data to further counsel individuals on the association between Medicine X and lupus? - What is the difference between the odds ratio and the relative risk?

What type of study is this that you will be performing? - Case control study How will you express your data to further counsel individuals on the association between Medicine X and lupus? - I would use odds ratios, as this is a case control study What is the difference between the odds ratio and the relative risk? - Case control studies are considered observational as no intervention is made. Case control studies only use ODDS RATIOS. When performing a cohort study I could use the OR (which will estimate the RR) or I can calculate the RR. If I use the OR in those instances it will always overestimate the RR>

Study example: A study looked at people who became ill and compared whether thy had eaten BBQ or not. - What type of study is this? - What does it mean if the OR is 0.6? - What does it mean if the OR is 1.5?

What type of study is this? Case-control (as starting w/ the disease, being ill) What does it mean if the OR is 0.6? That those who ate BBQ (exposed) were 40% less likely to get ill (outcome/disease). What does it mean if the OR is 1.5? That those who ate BBQ (exposed) were 50% more likely to get ill (outcome/disease)

Confounding variable

When a characteristic or a variable is not distributed the same in the study versus control group that then affects the outcome that is being addressed. This type of variable can be from chance or bias(and when from bias, since this is during the assessment process, it is called selection bias).

In the contest of substance abuse, what are some referrals you can pursue?

When opioid use disorder (OUD) is diagnosed, the recommendation is opioid agonist pharmacotherapy (aka medication assisted treatment, MAT) over medical withdrawal (due to documented high relapse rates. However, more recent data does not support that medical withdrawal has increased rates of IUFD or PTDS, but more data is needed. I would familiarize myself with local referral centers to coordinate a multi-disciplinary approach to provide medical, developmental, and social servcies

Selection bias

When the groups chosen differ by at least one characteristic that affects the study outcome; is a type of confounding variable.

Case Do you recommend patietn's w/ anxiety/depression be treated pharmacologically in pregnancy?

Yes. Bc if not treated there is a risk of postpartum depression and anxiety. Also, if not treated, the patient may not bond w/ the fetus/neonate. Furthermore, anxiety that is not under control has been associated with miscarriage, preterm labor, preterm birth, and prolonged labor. I would also recommend she see a mental health provider regularly. If using benzodiazepines, I will consider those that are longer acting (such as clonazepam-Klonipin) over short acting (alprazolam-Xanax) to decrease habitual use. Screening for depression is recommended once during the perinatal period and at patient's postpartum visit I use validated screening tool for this. I choose to use the Edinburg Postnatal Depression Scale (or Patient Health Questionnaire 9) as it takes less than 5 minutes, is available in Spanish and has rather high sensitivity and specificity. ** CO 630 2015

Intrahepatic cholestasis of pregnancy: Management

[ ] Recommend that ursodeoxycholic acid be used as the first-line agent for the treatment of maternal symptoms of cholestasis of pregnancy [ ] Hydroxyzine (Vistaril 25mg q8hr prn pruritis [ ] Benadryl prn, cool showers, lotion after showers, Aveeno baths [ ] Suggest that patients with a diagnosis of ICP begin antenatal fetal surveillance at a gestational age when delivery would be performed in response to abnormal fetal testing or at the time of diagnosis if the diagnosis is made later in gestation. [ ] Repeat labs can be done of bile acids and LFTs depending on symptoms; consider assessing coagulation studies, and if PTT is elevated the patietn may be Vitamin K deficient [ ] Recommend that patients with total bile acid levels =100 micromol/L be offered delivery at 36w0d of gestation, given that the risk for stillbirth increases substantially around this gestational age. [ ] Recommend delivery between 36w0d and 37w0d of gestation for patients with ICP and total bile acid levels <100 micromol/L. [ ] Recommend antenatal corticosteroids for fetal lung maturity for patients delivered before 37w0d of gestation if not previously treated. [ ] Recommend against preterm delivery at <37w of gestation in patients with a clinical diagnosis of ICP without laboratory confirmation with elevated bile acids

[] CBC every trimester if asymptomatic, more often if sxns [] Avoid NSAIDS [] If history of splenectomy, immunization needed against pnumococcus, H.Flue, meningococcus. [] Unknown if treatments for moms plates will increase fetal platelets [] No recommendations for CD over VD - doesn't change rate of fetal intracranial hemorrhage [] Not able to predict fetal platelet levels for moms with ITP and no testing to check fetal blood is recommended. [] At delivery infant needs cord blood plt count and IM injection for the enonate such as vitamin K shoudl be held until plt count returns. Watch for 2-5 days as nadirs then.

Case 20Y G1 at 16w presents for consultation regarding Crohn's disease in pregnancy. She was diagnosed at 14yrs of age and is currently taking weekly Humira (adalimumab) and as needed ibuprofen for arthralgias. She was intermittent diarrhea and constipation. Her diagnosis was made w/ a biopsy at time of colonoscopy. How do you counsel the patient regarding her current medication regimen?

[] I would dsicuss continued use of the weekly Humira injections after reviewing risks/benefits w/ her. [] I would review that NSAIDS can cause decreased amniotic fluid levels or early narrowing of the ductus arteriosus in the fetus. She can continue as needed use until 32w, at which time all NSAIDS should be discontinued. If she has regular NSAID use prior to 32w i would evaluate weekly AFI and consider DA measurements. [] She can consider short doses of steroids for flares.

20y G2P1001 at 27w presents with left sided flank pain. She reports that it is colicky in nature. She has no fever, chills, nausea, or emesis. Imaging is performed confirming a left kidney stone. Reports states moderate left sided hydronephrosis, CBC and CMP are normal. UA shows moderate blood. What is your treatment plan?

[] Strain urine [] control pain with po/iv meds [] Medications to help pass stone such as antispasmotic, CCB like nifedipine, or an alpha blocker like tamsulosin. There is a higher rate of passing the stone with tamsulosin (Flomax) which is a smooth muscle relaxant for the bladder; it is most helpful if stone is 10mm or less

What is acute chest syndrome?

vaso-oclusion in pulmonary microcirculation presents with CP, SOB, lung infiltrates often precipitated by pneumonia MC cause of death in adult patients Complication of irreversible sickling New radiodensity on CXR accompanied by fever and/or respiratory symptoms Leading cause of death Diagnostic criteria: - Temp > or = 38.5 C - Hypoxia - Tachypnea - Chest pain - Cough, wheezing, rales

When do you evaluate patients for recurrent pregnancy loss?

≥SAB (reasonable after two) Consider after two if: - Fetal cardiac activity seen prior to loss - AMA - Couple with difficulty in conception - FHx of pregnanly loss/aneuploidy

Tingnan ang lahat ng mga set ng pag-aaral

Kaugnay na mga set ng pag-aaral

Research Methods Chapter 1

Chapter 1 Exam 1

Chapter 10: Organization Change Quiz Questions

APUSH Chp. 25

color theory

AP Comp Sci Practice Test

Biology Exam #2

Internal organs

medical terminology match up

ACC 324: Midterm - Terms and Practice Questions

IS 310 Chapter 5

OB PrepU: Chapter 13

Business Mathematics Chapter 10 - Simple Interest

Driver's Ed flashcards chapter 3

Statute of Frauds

Exam 3 Practice Questions

Nclex Review: Depression, Depression NCLEX, Bipolar Disorder NCLEX, Schizophrenia NCLEX Questions, Schizophrenia NCLEX questions, Schizophrenia NCLEX part 2, NCLEX Schizophrenia