ABGC Boards - Final Review

Wilms tumor

AKA kidney tumor, associated with BWS

Burkitt lymphoma

B-cell tumor of the jaw (common childhood tumor in Africa); Most cases caused by t(8;14) activating MYC proto-oncogene

CHRPE

Congenital hypertrophy of the retinal pigment epithelium; Ocular finding associated with FAP

NBN

Forms complex with RAD50 which then interacts with ATM, increased cancer risks including brearst cancer

MUTYH-associated polyposis (risks and management)

MUTYH (*AR*); Polyposis increases risk of CRC and duodenal; 25-30yo: colonoscopy, proctocolectomy PRN; 30-35yo: EGD

Von Hippel Lindau (risks and management)

VHL (20% de novo); Hemangioblastomas of brain, spinal cord, retina; Clear cell RCC: 70%; Increased risk pheochromocytoma, pancreatic; 1yo: neurologic, vision, hearing exams; 5yo: auditory canal MRI; 16yo: abdominal u/s, abdominal, brain, spine MRI

Xeroderma pigmentosum

XPA-XPG; Sun sensitivity, photophobia, neurologic manifestations; 1000x risk of skin

Familial adenomatous polyposis (management)

10-15yo: sigmoidoscopy/colonoscopy, total colectomy PRN, thyroid exam; 25-30yo: EGD, abdominal MRI/CT

Amsterdam II criteria

3 or more individuals with Lynch-related cancers; 2 successive generations; 1 Lynch-related cancer dx <50yo

hepatoblastoma

malignant liver tumor, most common primary liver malignancy in children, associated with BWS

Duchenne Muscular Dystrophy (DMD)

most common form of muscular dystrophy; affects primarily boys with onset between the ages of 3 and 5 years; the disorder progresses rapidly so that most of these boys are unable to walk by age 12 and later need a respirator to breathe

hamartoma

mostly benign, focal malformation that resembles a neoplasm in the tissue of its origin. This is not a malignant tumor, it grows at the same rate as the surrounding tissue. It is composed of tissue elements normally found at that site, but they are growing in a disorganized manner.

Alpha-like chains chr:16

(alpha) (zeta)

"Beta-like" chains chr:11

(beta) (gamma) (epsilon) (delta)

What is a heuristic? What are some examples?

* Anchoring and adjustment * Availability heuristic * Representativeness heuristic * Naïve diversification * Escalation of commitment

Differences in AFP levels to be aware off

- AFP higher in Blacks > Caucasians - AFP higher in twins > singletons -AFP higher at 20 weeks > 16 weeks -AFP higher in normal > insulin treated diabetic -AFP higher in normal weight > obese patient

Myotonic Dystrophy Type 2

- Autosomal dominant - Chromosome 3 - Milder phenotype - PROXIMAL effects - Myotonia, endocrine, CATARACTS

Limb Girdle Muscular Dystrophy

- Onset between 1st and 3rd decades of life - Proximal muscles of pelvis and shoulder initially affected - Progresses slowly

Risks of cordocentesis/PUBS

-1-2% miscarriage -Blood loss -Infection -Drop in fetal heart rate -PPROM

Considerations for echogenic bowel

-1-3% risk for CF -Increased risk for T21 -Fetal infection (CMV) -GI anomalies -Normal variation

ACOG 2007 practice guideline on prenatal screening

-All women should be offered aneuploidy screening, regardless of age. -Integrated screening is more sensitive than 1st trimester screening & should be offered if women seek PNC in 1st trimester.

Fetal MRI is better than ultrasound in which cases?

-Brain abnormalities -Maternal obesity -Oligohydramnios

executive order 2000

-Clinton -prohibits the US government from using genetic info in hiring, promotion, discharge, and all other employment decisions

ACMG/ACOG/SMFM 2015 Opinion on Expanded Carrier Screening

-Conditions on screen should be severe -Exclude conditions with adult onset phenotype, variations with high allele frequency & low penetrance (ie MTHFR) -VUS should nto be reported -Should report residual risk -Molecular genetic testing is not always the optimal screening approach

ACMG ethics guidelines

-DTC - outlines min. requirements for DTC protocol -adoption - joint ASHG/ACMG, endorsed by NSGC - only genetic testing to help child, same as annoy other child, not testing for traits w/i normal range -against gene patents, for maximum accessibility and open licensing -duty to recontact - genetics professional should recommend pt and referring recontact; but geneticist responsible for updating pt they follow on ongoing basis -testing minors -

Multiple Endocrine Neoplasia Type 2B

-Early and very aggressive medullary thyroid cancer (100% lifetime risk) -causes multiple tumors on the mouth, eyes, and endocrine glands -Most often de novo

Which analytes are made by fetus & which by placenta?

-HCG, inhibin made by placenta -AFP, estriol made by fetus

AFP levels in early fetal demise vs. late fetal demise

-High AFP if early demise -Low AFP if late demise

Peutz-Jeghers Syndrome

-Mostly benign Hamartomatous polyposis, develop hamartomas in the small intestine (and other places) (colorectal, gastric, pancreatic, breast, and ovarian cancers) -Hyperpigmented macules on the mouth and hands -1/3 of children have symptomatic GI polyps before age 10 -Caused by STK11 (considered a breast cancer gene)

2011 ACOG Opinion on CF carrier screening

-Offer CF carrier screening to ALL patients -Complete analysis of CFTR sequencing is not appropriate for routine screening -NBS panels that include CF do not replace maternal carrier screening

With hexosaminidase A analysis for carrier screening, when is it important to use leukocytes/WBCs rather than serum?

-Pregnant patient -Patient taking oral contraceptives -Patient with autoimmune disease or taking unusual medication who has inconclusive serum analysis

Cordocentesis/PUBS is not commonly used. What are its potential uses?

-Rapid fetal karyotyping -Clarifying chromosomal mosaicism -Diagnosis & treatment of anemia -Rule out fetal infection

Li-Fraumeni Syndrome

-Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all family members with same cancers or all with different) -Adrenocortical carcinoma considered pathognomonic -50% have some type by 30, 90% by age 60 -TP53 accounts for 70% of individuals

Inaccurate dating is a common reason for false + serum screen. What will a woman screen + for if her GA was overestimated and what will she screen + for if her GA was underestimated?

-Screen + for T21 if GA overestimated -Screen + for NTD if gestational age was underestimated

What is important about mosaic Trisomy 20 on amnio?

-T20 cells come from urinary tract -Almost all are phenotypically normal -If mosaic in >40% cells, increased risk of birth defects

associative countertransference

-arises in an emphatically attuned moment in a session when the patient shares an experience, loss, wish, or story that carries the counselor (usually for a short time) into his inner self -remembered emotions, review of mental images, recall of conversations\n-

ACOG 2012 cfDNA opinion

-cfDNA for patients at high risk (AMA, abnormal u/s findings, prior preg w/ trisomy, abnormal serum screen) -Patients should have informed consent -Not offered to low risk or for multiple gestations

a-thal carrier phase and effects

-cis: SE asian -trans: African american, Mediterranean, and Middle Eastern Low MCV (60-70s) normal Hb evaluation frequently misdiagnosed as iron deficiency

projective countertransference

-counselor makes assumption of experience of patient based on counselor's own parallel life experience (loss, suffering, fear, panic) -session may go in direction of counselor's reaction instead of patient's

undoing

-defense mechanism -try to reverse or undo feeling by doing something that indicates the opposite feeling (ex. angry at a professor, give the professor an apple)

guilt, shame

-esp, in parents of affected children -use denial or withdrawal to cope with guilt and shame -witness the guilt and shame, give it a space, help them then come to greater self-empathy -don't offer rapid reassurances

availability

-frequency or probability of event by ease with which instances or occurrences come to mind -overestimate risks of SCD b/c of high profile news cases on athletes -think flying is more risky than driving b/c of dramatic plane crashes

representativeness

-heuristic -degree to with A is representative or similar to B, if similar, then attribute many features of one to the other -ex. - judge amnio as unsafe b/c of one friend's story -ex. consider all gov't agencies untrustworthy b/c of bad experience with one -i.e. generalizing from one to others

denial

-inability to acknowledge to oneself certain information or news -common response when info elicits shock and fear -usually short term -don't intervene too soon, may be adaptive for a short period at the right time -normal part of grieving -can be adaptive -respond with empathy and understanding NOT confrontation -work with it, not against it

NSGC code of ethics\nsection IV: GCs and society

-interest and participation in activities that have the purpose of promoting the well being of society and access to health care strive to: -keep abreast of societal developments that may endanger the physical or psychological health of individuals -promote policies that aim to prevent discrimination -oppose the use of genetic information as the basis for discrimination -participate in activities necessary to bring about socially responsible change -serve as a source of reliable info and expert opinion for policymakers -keep public informed and educated about impact on society of new technological ans scientific advances and possible changes in society that may result from the application of these findings -support policies that assure ethically responsible research -adhere to laws and regulations of society. however, when laws are in conflict with the principles of the profession, GCs work toward change that will benefit the public interest

adjustment and anchoring

-make estimates from starting form initial values (anchor) and then adjusting them

displacement

-maladaptive coping -feelings toward one person or situation are directed toward another individual -ex. client who is angry about cancer risks may direct anger to a relative or health care provider -ex. client not booking own surveillance appointments but nagging relative's to book theirs

projection

-maladaptive coping strategy -ascribe one of own undesirable traits or feelings to another person -allows individual to distance self from issues that are hard to deal with -ex. guilt - pt says it's the OBs fault. anxious - pt perceives the GC as anxious

distancing

-maladaptive coping strategy -shield themselves from caring too much about people -especially after many losses -interferes with maintenance of romantic relationships, friendships, etc.

limitations of GINA

-no protection for life insurance, disability insurance, long-term care insurance -doesn't mandate coverage for any test or treatment -employment provisions don't apply to employers <15 employees -doesn't prohibit health insurers from obtaining and using genetic tests in making payment determinations

HIPAA (1996)

-only covers employer-based and commercially issued group health insurance -limits to what extent insurers can discriminate based on preexisting conditions -explicitly states that genetic information in absence of current diagnosis cannot be considered a preexisting condition -BUT can still exclude if received treatment/care/etc within 6 months prior to enrolling in new group/employer plan -also increases access to insurance if lose insurance

ADA

-prohibits employment discrimination on basis of disability -protects individuals with genetic etiology same as non-genetic etiology

HIPAA 2002

-protect medical records and other personal health info -limit nonconsensual use and release of PHI -give patients new rights to access their medical records and know who else has accessed them -restrict disclosure of PHI to min. needed for intended purpose -establish new criminal and civil sanctions for violations -new requirements for access to records by researchers and others

NSGC policy statements w ethica relevance

-support reproductive freedom -support access to care regardless of race, ethnicity, SES, etc. -support genetic nondiscrimination -support right to privacy and confidentiality re: genetic info -support right to informed consent including full disclosure of all options -support fetal tissue research -support national health care reform that promotes universal access -discourage prenatal and childhood predictive testing for adult-onset disorders -supports research or therapeutic cloning, not reproductive cloning -DTC - recommends list of issues for customers to assess in DTC company

goals of GC session (Kessler)

-understand the other person -bolster their inner sense of control over their lives/promote a greater sense of control over their lives -relieve psychological distress, if possible -support and possibly raise self esteem -help them find solutions to specific problems

basic skills and attitudes needed for multicultural competancy

-understanding of your own cultural code, how it shapes how you act, think, relate, communicate, perceive reality and judge others. awareness of your own biases and blinders -knowledge of clients' ways of perceiving reality, how they interpret illness and disorders, experience and express pain, view sex, marriage, family, kinship -attitude of humility re: diversity of human cultures and value of each of them -ability to use other people's cultural code as a counseling resources, not just viewed as a barrier or obstacle

anger

-useful interventions -- invite them to discuss anger - "you sound angry, tell me more" --witnessing the feeling, honoring its role, empathic attunement lifts anger ---manage own reactions, get supervision -may take different shapes - blame, crying (esp women)

NSGC code of ethics\nSection I: GCs themselves

-value: competence, integrity, veracity, dignity, self-respect in selves and others strive to: -seek out and acquire sufficient and relevant information required for situation -continue education, training -keep abreast current standards of practice -recognize own limits in situation -accurately represent themselves, training, competence, etc. -acknowledge and disclose conflicts of interest -avoid relationships and activities that interfere w professional judgement or objectivity -responsible for own physical and emotional health as it influences professional performance

NSGC code of ethics\nSection II: GCs and their clients

-values: care and respect for autonomy, individuality, welfare, freedom strive to: -serve those who seek services regardless of personal or external interests or biases -clarify and define their roles and relationships w patients, accurately describe their services -respect clients' beliefs, inclinations, circumstances, feelings, family relationships, cultural traditions -enable clients to make informed decisions -refer clients to other qualified professionals as needed -maintain info received from client as confidential unless released by client or required by law -avoid exploitation of clients for personal advantage, profit, interest

NSGC code of ethics\nSection III: GCs and their colleagues

-values: mutual respect, caring, cooperation, support strive to: -share knowledge and provider mentorship and guidance for professional develop of other GCs, students, colleagues -respect and value the knowledge, perspective, contributions, areas of competence of colleagues and students -collaborate to provide the highest quality service -encourage ethical behavior in colleagues -assure that individuals under their supervision undertake responsibilities that are commensurate with their knowledge, experience, and training -maintain appropriate limits to avoid the potential for exploitation in their relationships with students and colleagues

Overall carrier frequency of SMA

1 in 54 (about 2%)

When to repeat MS-AFP and how many will be normal on 2nd draw?

1. AFP mildly elevated (<3.0 MoM) 2. <18 weeks gestation -30% will be normal on 2nd draw

Tenets of genetic counseling

1. Genetic information is key 2. Relationship is integral to genetic counseling 3. Patient autonomy must be supported 4. Patients are resilient 5. Patient emotions make a difference

Components of Genetic Counseling

1. Information Gathering 2. Establishing or Verifying Diagnosis 3. Risk Assessment 4. Information Giving 5. Psychological Counseling and Support

Carcinogenesis (4 steps)

1. Initiation; 2. Promotion (clonal expansion mediated by growth factors); 3. Progression (develop neoplastic characteristics, increased growth, invasive potential); 4. Metastasis

Differential dx for low estriol

1. Suppressed/absent adrenal secretion: fetal death, anencephaly, and CAH 2. X-linked ichthyosis 3. Smith-Lemli-Opitz

6 critiques of autonomy

1. The right to autonomous decision making is not universally available due to economic and social realities 2. In practice, it is not a right but a privilege that can be revoked based on ses 3. It is a culturally limited concept 4. Even among traditional genetic counseling populations autonomy isn't universally desired 5. It can justify poor counseling techniques (non directiveness) 6. If the family is our patient, why shouldn't the family have autonomy?

Philosophy of Genetic Services and Counseling

1. Voluntary 2. Equal Access 3. Client Education 4. Complete Disclosure of Information 5. Nondirective Counseling 6. Attention to Psychosocial and Affective Dimensions in Counseling (client's interpretation of information and impact on their social and psychological framework) 7. Confidentiality and Protection of Privacy

Four elements to informed consent

1. competence (capacity to make a rational choice) 2. information - amount and accuracy (benefits/risks, alternatives) 3. patient understanding (identify barriers to understanding and try to overcome them) 4. voluntariness and authorization (not controlling others, patient is an active agreer)

Kubler-Ross 5 stages of grief

1. denial 2. anger 3. bargaining 4. depression 5. acceptance *don't always move in a straight line through these stages

REM: Tenets of genetic counseling (5)

1. genetic information is key 2. the relationship is integral to genetic counseling. 3. patient autonomy must be supported. 4. patients are resilient 5. patient emotions make a difference

Approaching countertransference

1. identify it- thoughtful attention to emotions before, during after a session. Anxiety might signal CT. 2. identify situation that provokes it- patient characteristics, patient types, disorders? specific activities? ethnic, cultural or SES? 3. review your life experiences 4. work with others - ex: discuss with colleague

Individualism, familism, collectivism (worldview models that explain how culture can affect GC)

1. individual as most important social entity, W europe influence 2. family as most important group 3. group as most important social entity

Negative consequences on the counseling session from patient anger

1. lack of full participation in session 2. resistance to treatment or suboptimal care 3. lack of resolution impedes acceptance 4. repressed anger leads to decrease QOL

Compare and contrast communication processes: Paternalistic, shared decision making, and deliberative decision making

1. paternalistic- one way directive from car provider 2. shared decision- two way, value and preference guided process 3. two way value and preference guided provocative process

Influences on risk communication

1. preconceived ideas- patients beliefs about their risk 2. Heuristics and experience- patient may use rules of thumb or cognitive shortcuts. May lead to inconsistencies. 3. Emotional factors- may seek info to minimize vulnerability and anxiety. What emotions does the risk elicit from them. tone of voice and body language. 4. family history- patients previous experience and knowledge frames risk 5. gender role socialization- are they following socially prescribed views of male/female behavior to interpret or react to risk 6. culture and ethnicity- different cultures interpret risk differently 7. personality- world view can impact risk assessment

Epstein's 5 steps for productive discussion and decision making

1. understand the importance of the issue. Explore patients past experiences, fears, and expectations 2. build partnership and trust through empathy and validation 3. provide evidence, anticipate unasked questions, include uncertainties a little at a time 4. present recommendations after discussing patients values and goals 5. Check for understanding and listen actively (example questions and scenarios on pg 38)

Shared decision making USPSTF definition

1. understands risk and seriousness of disorder 2. understands preventive services, risks, benefits, alternatives, and uncertainties 3. weighed his or her values regarding benefits and harms 4. engage in decision making at level patient desires

Multiple Endocrine Neoplasia Type 1

1.) Hyperparathyroidism 2.) Pancreatic/Gastric tumors 3.) Benign pituitary tumors (controls GH, TSH, Prolactin)

What % of cell free DNA is maternal vs. fetal in pregnancy?

10% fetal, 90% maternal

What is the yield of CMA in children with I.D. and/or congenital anomalies compared to karyotype?

15-20% CMA yield vs. 3% karyotype yield

Antiphospholipid syndrome is found in what % of women with RPL?

15-40%

What is the residual risk of a chromosome abnormality after normal cfDNA when a patient had a positive serum screen?

1:52 (2%) - abnormalities not detected by cfDNA

Angelman Syndrome (AS)

1st described by Dr. Angelman. usually a normal prenatal & birth history, normal head circumference, & no obvious birth defects. occurs when chromosome 15 is duplicated from father/deleted from mother. usually diagnosed b/w 3-7 yrs, but delay may be apparent by 6-12 months of age but children do not show regression. symptoms incl seizures, a stiff & jerky gait, laughter & a happy demeanor, an easily excitable personality, hypermotoric behavior, hand-flapping movements, & short attention span. most have few or no words, nonverbal communication & verbal receptive skills are higher than verbal expressive skills

trimester ranges

1st: 1-13wks 2nd: 13-26 wks 3rd: 26-40 wks

Hereditary diffuse gastric cancer (criteria)

2 or more gastric cancers, at least one diffuse, dx <50yo; Phx diffuse gastric ca <45yo; 1 diffuse gastric and 1 lobular breast; 1 diffuse gastric and 1 signet ring colon

Recurrence risk of CHD with affected father

2-3% (same as if affected sibling)

frequency of balanced rearrangement carrier in one partner of a couple experiencing multiple pregnancy losses

2-5%

Risk for adverse outcome with AFPs of 2.5-2.9, 3.0 - 3.9, and >4.0 MoM?

2.5-2.9 = 27% risk 3.0 - 3.9 = 39% >4 = 45%

Lynch syndrome (management)

20-25yo: colonoscopy, consider EGD; 25-30yo: neurologic exam; Consider transvaginal u/s, CA-125, risk-reducing TAH/BSO

Critical period for rubella

20-60 days post LMP/3-9 wks

Li-Fraumeni syndrome (management)

20yo: breast MRI, derm eval; 25yo: colonoscopy and EGD; 30: breast MRI, mammogram, consider mastectomy; Whole-body and brain MRI

Risk for aneuploidy, major anomaly, and fetal death in NT of 3.5 - 4.4 mm?

21% aneuploidy 10% major anomaly 2.7% death

HBOC management

25-29yo: annual breast MRI; >30yo: annual breast MRI and mammogram, pelvic exam/transvaginal u/s, CA-125, consider prophylactic mastectomy; ~40yo: consider BSO; Tamoxifen has unclear effects, OCPs >5yrs may reduce ovarian risk by 50%

In women with RPL, what % of POC's have an abnormal karyotype?

25-32% (most are trisomies)

Risk for aneuploidy, major anomaly, and fetal death in NT of 3.0-3.4 mm?

3.7% aneuploidy 2.5% major anomaly 1.3% fetal death

Risk for Down syndrome with duodenal atresia on ultrasound

30%

CPCs are present in what % of fetuses with T18 vs. what % of normal fetuses?

30% of T18 fetuses 1-2% of normal fetuses

Hereditary diffuse gastric cancer (management)

30yo: breast MRI, mammogram, EGD with random biopsies, consider prophylactic mastectomy and gastrectomy; 40yo: colonoscopy

Risk for aneuploidy, major anomaly, and fetal death in NT of 4.5 - 5.4 mm?

33% aneuploidy 19% major anomaly 3.5% death

Critical period for Thaladomide

34-50 days pots LMP/ 5-7 weeks

Recurrence risk if parent had isolated cleft lip/palate

4%

What % of SMA carriers are "silent carriers" (2 SMN1 copies in cis)

4%

Timing of neural tube closure

4th week after conception (days 24-28)

Recurrence risk for normal couple whose 1st 2 children have spina bifida

5-10%

Recurrence risk of CHD with affected mother

5-6%

What is the frequency of CMA findings in fetuses with 1 abnormality vs. fetuses with multiple anomalies?

5.5% in single abnormality, 12.1% with multiple anomalies

What % of cytogenetic abnormalities identified by amniocentesis will not be detected by traditional cfDNA screening?

50%

Risk for aneuploidy, major anomaly, and fetal death in NT of 5.5 - 6.4 mm?

51% aneuploidy (same as cystic hygroma) 24% major anomaly 10% death

CMA identifies a clinically relevant abnormality in what % of prenatal cases with abnormalities and normal karyotypes?

6%

critical period for Warfarin

6-12 weeks

Differential diagnosis for Cystic hygroma

60% risk for chromosomal abnormalities- Turner, Down and T18. Regression in size when Noonan and aneuploidy Persistent CH associated with hydrops, IUFD

Nasal bones are absent in what % of fetuses with T21 vs. what % of normal fetuses?

60-70% of T21 cases <3% of normal fetuses

Risk for aneuploidy, major anomaly, and fetal death in NT >6.5 mm?

65% aneuploidy 46% major anomaly 19% death

Smith-Lemli-Opitz Syndrome

7-Dehydrocholesterol Reductase partial deficiency. Lack of correct double bond formation in cholesterol B ring. Microencephaly, embryonic malformations, low IQ

Women with RPL still have what % chance for a successful pregnancy on average?

75%

Peutz-Jeghers syndrome (management)

8-10yo: CT/MRI of small bowel, testicular exam; Teens: colonoscopy and EGD; 25yo: breast MRI and mammogram; Can consider endoscopic u/s of pancreas

What % of babies with an NTD have no family history?

95%

DES

<8 wks

consequences of decreased B-globin production

>microcytic anemia a-globin chains precipitate >form inclusion bodies, "Heinz" bodies > tear-drop shape> early destruction of RBC onset of clinic symptoms not present intil a few months AFTER birth HbA2 production unaffected (a2d2)

when is Rhogam administered?

@28wks gestation and also within 72 hours of delivery (also after SAB, ectopic, TAB, CVS, amnio, uterine bleeding, or trauma in pregnancy)

Anger

A complex emotion that seeks to blame In it's most extreme form, there can be a wish to achieve revenge Patients need the opportunity to understand the meaning of their anger and to transform it

Rett's disorder

A developmental disorder marked by initially normal growth but then deterioration in functioning between 5 and 48 months of age.

Inconsistency

A discrepancy identified by the GC between what the client says at different points in the session or between what the client says and does

Achondroplasia

A form of human dwarfism caused by a single dominant allele; the homozygous condition is lethal

oncogene

A gene having the potential to cause a normal cell to become cancerous.

cystic fibrosis

A genetic disorder that occurs in people with two copies of a certain recessive allele; characterized by an excessive secretion of mucus and consequent vulnerability to infection; fatal if untreated.

Sequence

A group of related anomalies that generally stem from a single initial anomaly that affects the development of other tissues or structures

Burnout

A response to prolonged exposure to demanding interpersonal situations and looks like emotional exhaustion, depersonalization and reduced personal accomplishment

Analytes examined for ONTD via amnio

AFP and AchE

Spinal Muscular Atrophy (SMA)

AR, SMN1 gene 2 copy #s has residual risk of 1 in 680 due to the 2+0 genotype most common inherited disorder of infant mortality progressive degen of lower motor neurons 1 in 54 carrier freq all ethnic groups symmetrical proximal weakness resp by 2 in 1 swallowing crawling head and neck all affected intellect and emotion are normal 60-70% type 1 (most severe) number of SMN2 copies can affect phenotype AA have higher incidence of 2+0 genotype so 1 in 130 RR

Cowden syndrome (management)

ASAP: annual thyroid u/s 30-35yo: annual mammogram, breast MRI, endometrial bx, colonoscopy every 5 years, consider prophylaxis (mastectomy and TAH) 40yo: annual renal u/s

22q11.2 deletion syndrome clinical presentation

ASD, developmental delay, heart defects, cleft palate, psych disorders

Ataxia telangiectasia

ATM (*AR*, carriers have 4x risk for breast, leukemia, stomach, colon); Progressive ataxia, wheelchair-bound by teens, telangiectasias; Increased risk leukemia, lymphoma, ovarian, breast, gastric, pancreatic, lung, melanoma; Sensitivity to ionizing radiation

Cultural competency

Ability to deliver effective treatment to people of another culture and the incorporation of culture and cultural dynamics into service provision. Components of knowledge, skills, awareness

Deformation

Abnormal form, shape or position due to mechanical forces eg. Amniotic band syndrome

Dysplasia

Abnormal organization of tissues, eg. ectodermal dysplasia

A woman's newborn daughter has been diagnosed with FAS. The woman admits to the counselor, "I knew that drinking alcohol during pregnancy was risky and I still did it. I wish this hadn't happened, but I know I won't make the same mistake in the future."

Accepting responsibility Coping style

Disbelief

Accurate perception of information but failure to accept or believe it because it does not appear to make sense given prior information and expectations. allows for hope in early stage of adjustment.

Carrier frequency of sickle cell in African & Mediterranean populations

African: 1 in 10 Mediterranean: 1 in 40

Carrier frequency of alpha thalassemia in African and Asian populations

African: 1 in 20 Asian: 1 in 20

Carrier frequency of Beta thalassemia in African, Asian, Hispanic, and Mediterranean populations

African: 1 in 75 Asian: 1 in 50 Hispanic: 1 in 30 to 1 in 50 Mediterranean: 1 in 25

Breast cancer (risk factors)

Age, gender; Race/ethnicity (Caucasian); Benign breast disease (atypical hyperplasia, LCIS); Obesity, poor diet, excessive EtOH use; Early menarche, late menopause, nulliparity, HRT; Ionizing and chest radiation; Family/personal history

Eugenics Model

Agencies under social control that may improve or impair racial qualities of future generations, either physically or mentally -Revulsion of Eugenics model inspired nondirective approach to genetic counseling

Fabry's

Alpha galactosidase A deficiency corneal verticillata post lenticular spoke like changes dx by failure to detect alpha galactosidase in tears

Deformation

An anomaly caused by an abnormal external force on the fetus during in utero development

Malformation

An anomaly formed when fetal growth and development were prevented by proceeding normally by an underlying genetic, epigenetic, or environmental factor

Disruption

An anomaly that results when the normal growth process of a fetal structure is disrupted, and growth is arrested

Dysplasia

An anomaly that results when the normal intrinsic cellular architecture of a tissue is not maintained throughout development

Gap

An issue typically associated with a specific genetic situation has not been raised

Neural tube defects

Anencephaly- lack of cranial vault, absence of brain Meningocele- skin covered, meninges protrusion, Myelomeningocele- localized defect in closure of neural tube Spina Bifida oculta- no opening, hairy patch, absent vertebrae

A woman comes to a results session for predictive HD testing. After a warning shot, the counselor gently tells the woman she has tested positive for 44 repeats and will develop the disease. The woman says, "I can't believe you just blurted it out like that! You're a terrible genetic counselor! You have made this whole experience terrible for me. I'm going to report you to your supervisor."

Anger Reaction to bad news Defense mechanism

Psychotherapeutic Model

Approach of genetic counseling that encompasses both educational information and addressing the emotional baggage (experiences, emotional responses, goals, culture, religion) of the patient to promote coping and adjustment

Oncogene

Arise from proto-oncogenes, which regulate cell signalling; Constitutive activation of these proto-oncogenes leads to tumors; Most often point mutations, but may be gene amplification, chromosome rearrangement (ex. BCR-ABL), viral insertion (ex. HPV); Ex. RET (MEN2)

Associative countertransference

Arises when a patient shares an experience that carries the counselor into his or her inner self you client's experiences taps into your inner self and you begin to focus on your own thoughts, feelings, and sensations. Different from projective id in that you do not believe that your feelings are the client's feelings- know that they are your own feelings. Find yourself losing focus- shift from client to self.

Neurofibromatosis type 1 (criteria)

At least 2: - FDR with NF1 - 6+ cafe au lait macules - 2+ neurofibromas - Axillary/inguinal freckling - Optic glioma - 2+ iris Lisch nodules - Dysplasia/thinning of sphenoid/long bones

Smith-Lemli-Opitz

Autosomal Recessive Multiple congenital anomaly syndrome attributable to a metabolic disorder Abnormal cholesterol metabolism Malformations include cleft palate, heart defects, abnormal genital development, polydactyly, and webbing between toes 2 and 3. Microcephaly and intellectual disability

beta thal/other beta chain disorder

B0 + Hb S = Sickle-beta0 thalassemia (variable, but often as severe as sickle cell anemia with similar complications) B+ + Hb S = Sickle-beta+ thalassemia (mild anemia, possible low MCV, likely splenomegaly, likely increased risk for infections) B0 + Hb C = Hemoglobin C-beta0 thalassemia (moderate to severe anemia, low MCV, possible splenomegaly) B+ + Hb C = Hemoglobin C-beta+ thalassemia (mild anemia, low MCV, not clinically significant)

Bardet-Biedl Syndrome

BBS1, BBS10 (along with 11 more), AR cone-rod dystrophy, truncal obesity, postaxial polydactyly, renal dysfunction M390R BBS1 and C91fsX95 BBS10 cilia defects

Bloom syndrome

BLM (*AR*) cause excessive chromosome breakage; Growth deficiency, sparse subq fat, sun sensitivity ("butterfly rash"), dolichocephaly; Lifetime cancer risk: 20%; Non-Hodkin's lymphoma, leukemia, mouth, stomach, larynx, lung, esophagus, colon, skin, breast, cervix

Juvenile polyposis syndrome (risks and management)

BMPR1A, SMAD4; >3 juvenile polyps in colon OR multiple juvenile polyps in GI tract; Colon: 40-50%; Stomach: 21%; 15yo: colonscopy, EGD, gastrectomy in severe cases

Hereditary Breast and Ovarian Cancer

BRCA 1/2 Breast 50-87% Second primary tumor 50-64% BRCA 1: 20-45% BRCA 2: 10-30% BRCA 2: Male breast 6-10%

HBOC (genetics and founder muts)

BRCA1: Ch. 17, 185delAG, 5382insC; BRCA2: Ch. 13, 6174delT

Autonomy

Based on the recognition of the intrinsic value of each individual, that person's capacities, and his or her point of view

Privilege

Benefits that people receive solely because of their membership in majority or empowered groups. Benefits no necessarily gained through active bias but results can be just as harmful to those who lack privilege

What is the preferred type of embryo biopsy for PGD?

Blastomere biopsy (cleavage stage, 6-8 cell stage)

Claus model

Breast cancer risk model; Includes FDR and SDR as well as age of onset; Ignores personal risk factors; Underestimates hereditary risk

IBIS (Tyrer-Cusick)

Breast cancer risk model; Includes FDR/SDR, bilateral breast ca, age of onset; Includes personal risk factors; May overestimate risk if fhx of bilateral disease

Gail model

Breast cancer risk model; Includes personal risk factors, FDR only; Underestimates hereditary risk, ignores paternal fhx/age of onset

BRCA1 risks

Breast: 56-87%, may be triple negative; Second breast: 40-60% Ovarian: 25-40%; Male breast: increased; Prostate: slightly increased; Pancreatic: 2-4%; Melanoma: none

BRCA2 risks

Breast: 56-87%; Second breast: 40-60% Ovarian: 10-27%; Male breast: increased; Prostate: 20-30; Pancreatic: 2-4%; Melanoma: increased

Intracardiac echogenic focus

Bright spot in fetal heart not a heart defect, does not affect function could be due to calcification of the papillary muscle of the heart common in left ventricle, occasionally right or rarely in atria

22q11 deletion syndromes

CATCH-22 = 3rd and 4th pharyngeal pouches Cleft palate Abnormal facies Thymic aplasia Cardiac defects Hypocalcemia (parathyroid aplasia) (ex: DiGeorge syndrome)

Normal CBC and Hb evaluation patterns

CBC: -MCV: 80-98 -hemoglobin: 11.5-15.1 -hematocri (RBCs +Plasma)t: 35-45 Hb eval: -HbA: >96% HbA2: 1.8-3.5% HbF: <2.0%

Hereditary diffuse gastric cancer (risks)

CDH1; Gastric: 67% men, 83% women; Lobular breast: 39-52%; Ductal breast, signet ring colon, islet cell pancreatic

Hereditary malignant melanoma

CDKN2A, CDK4; Multiple melanocytic or atypical nevi, malignant melanoma, neural system tumors; Pancreatic: 11-17%; Biannual derm, sun precautions

Bethesda criteria

CRC dx <50yo; 2 Lynch-related cancers at any age; CRC with MSI-H <60yo; CRC <50yo with fhx of Lynch-associated cancer

Lynch syndrome (risks)

CRC: 52-82% (2/3 in ascending colon); Endometrial: 25-60%; Stomach: 6-13%; Ovarian: 4-12%; Small bowel: 3-6%; Brain/CNS: 1-3%; Sebaceous neoplasms: 1-9%

Recommended testing options for NT

CVS, amnio including FISH and 22qdel Fetal US at 18-20 weeks Fetal echocardiogram at 18-22 weeks

Adrenocortical carcinoma

Cancer of the outer layer of the adrenal glands, commonly associated with Li-Fraumeni Syndrome

Etiology of increased NT

Cardiac failure venous congestion delayed development of lymphatic system altered composition of subcutaneous connective tissue

Person centered theory

Carl Rogers. help individuals become self accepting persons by becoming aware of their own growth and experiences. Psychological contact, incongruence, congruence and genuineness, unconditional positive regard, empathy.

Galactosemia symptoms

Cataracts, hepatosplenomegaly, mental retardation

Chronic myeloid leukemia (CML)

Caused by Philadelphia chromosome (t(9;22)) creating BCR-ABL fusion protein (constitutively active tyrosine kinase); Targeted therapy Imatinib inhibits tyrosine kinase activity

cystic hygroma

Cavernous lymphangioma (fluid filled sac) of the neck. Associated with Turner syndrome.

Family systems theory

Children does't make decisions without the influence of family or others. (as applied to counseling children). Consider developmental issues, family issues, contextual or social factors.

Differential diagnosis of NT

Chromosomal abnormalities (20-60%) Isolated cardiac, renal and GI defects Genetic: Noonan, 22q del, SLO, CAH, SMA Body stalk anomaly Skeletal defects Diaphragmatic hernia Exomphalos VACTERL Normal fetus If absent at 12 wks increases risk of DS

Sex bias in cleft lip/palate vs. isolated cleft lilp

Cleft lip/palate = males > females Cleft palate = females > males

Hb Barts

Complications are observed prenatally and include: Severe anemia Congestive heart failure Hydrops fetalis Life expectancy: This condition is uniformly fatal either in utero or shortly after birth

Hb H

Complications may include: Moderate anemia Jaundice Hepatosplenomegaly Increased susceptibility to infections Folic acid deficiency Treatment: primarily supportive, folic acid supplementation, avoidance of oxidative drugs and iron, transfusion when needed

A young man has been diagnosed with Li Fraumeni syndrome. When the genetic counselor tells him the news he says, "No you're wrong! There's no family history of this condition in any of my relatives. You said cancer is mostly sporadic. Look again, I'm sure the test is wrong."

Confronting (trying to chance the mind of the person "in charge") Coping style

Coping Styles:

Confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, plan, positive reappraisal

Child adolescent counseling tips

Consider their physical and cognitive development stage. Don't assume stage based on age or appearance. Self esteem is big for children- see world as me/mine (egocentric). Social development changes from family to peers. adolescents are more dependent on outside forces emotionally, may be masked with anger. Impact of chronic illness or psychosocial wellbeing may be more pressing than inheritance or facts. Might be more interested in how condition affects them, science basics, and how to manage. Children use different coping strategies (pg 261) Speak plainly and directly

Self disclosure

Counselor's communication to the client of information about self

A 28-year-old man with Klinefelter syndrome is referred for genetic counseling. He calls the genetic counselor several times with questions. The man's voice and personality are similar to the counselor's brother. She finds it easy to talk to him and enjoys his questions. She realizes her calls with him are taking longer than they should.

Countertransference

Most common NTDs occur where?

Cranial & lumbar regions

Homocystinuria

Cystathione synthase deficiency Lens subluxation, *thrombosis*, marfanoid, intellectual disabiliity Tx: pyridoxine

Most concerning US findings

Cystic Hygroma, Thick NT, Echogenic bowel,

*Prenatal* Cystic Fibrosis Carrier Screening

DNA mutation analysis ACOG recommends 23 gene panel @ mild vs. classic mutations @ VUS @ may identify "affected" Carrier Frequencies @ AJ = 1/24 (DR = 94%) @ N.E. Caucasians = 1/25 (DR = 88%) @ Latina = 1/46 (DR = 72%) @ African American = 1/65 (DR = 65%) @ Asian = 1/94 (DR = 49%) As carrier frequency decreases --> DR decreases As carrier frequency decreases --> carrier risk not reduced as much by a negative test

CHECK2

DNA repair gene that helps regulate BRCA1, modified Br Ca risk 1.5-3x gen population Others: colon, prostate, male breast,

Zellweger syndrome

Defective peroxisome biogenesis = defective proxisomal oxidation. Inability to breakdown LC FAs due to peroxisome defect. FAs are cut short and sent to mitochondria. hepatomeg, Mental Retardation, Infantile death. Severe

A patient was recently diagnosed with Marfan syndrome. He appeared to comprehend the results at the time of the disclosure, and when you speak with him on the phone, he acknowledges that he has the condition, but he has not made an appointment for an echocardiogram yet despite your frequent calls and reminders.

Deferral Reaction to bad news Mimic of denial

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

Countertransference

Defined as the counselor's reaction to the patient's transference

Angelman Syndrome

Deletion maternal chromosome 15 Duplication father's *15* Normal facial appearance Happy demeanor, episodes unprovoked laughter Developmental/learning delays, ataxia, nonverbal better than verbal

You see a woman to return microarray results for her son. The results show a CNV consistent with causing autism, and you tell the mother this. She says, "My son doesn't have autism. I don't know what you're talking about."

Denial A true inability to acknowledge information, she really doesn't yet believe/hear/understand what is happening

Transference

Describes patterns of expectations that interfere with relationship building or the client's ability to take actions Phenomenon in which one brings his/her old experience with important relationships in the past into his/her current interactions with people (making assumptions)

Multiple Endocrine Neoplasia Type 2A

Diagnosed by 2 or more endocine tumors in a single person or in close relatives -95% lifetime risk for medullary thyroid cancer, average diagnosis in late teens with 1/2 having lymph node metastases at diagnosis -Half the time includes pheochromocytomas -Parathryoid adenoma or hyperplasia

A genetic counselor returns positive genetic testing results for TP53 to a male patient. After hearing the news, the patient says "I don't understand. I thought you said the most likely test result was that we wouldn't find anything. This doesn't make any sense."

Disbelief Reaction to bad news Mimic of denial

3 mimics of denial

Disbelief. Deferral. Dismissal.

A woman's second trimester screening comes back positive for an open neural tube defect. A 20 week ultrasound confirms spina bifida, but the woman says, "What do you mean that tiny grey blob is 'spina bifida.' You can't tell anything from that terrible ultrasound picture! My baby is fine."

Dismissal Mimic of denial Reaction to bad news May manifest as anger, patient questions the legitimacy of the information

ACMG Five criteria when selecting diseases/mutations to be included in panels (ECS)

Disorder should be of a nature that most at-risk patients & partners would consider having a prenatal dx procedure to facilitate decision-making Patients MUST provide consent to be screened for any adult-onset disorders included in the panel For each disorder, the causative mutations and frequencies should be known in the population being studied so that meaningful residual risks can be established There must be validated clinical associations between the mutation detected and the severity of the disorder Labs must be in compliance with ACMG Standards and Guidelines for Clinical Genetics Laboratories

A man receives a new diagnosis of Lynch syndrome. The next day, he goes to Kmart to return a defective toaster, but the customer service representative won't allow him to return it without a receipt. The man flies into a rage and begins yelling at the customer service worker, complaining about his idiocy and ineptitude and yelling that he wants to speak with a manager.

Displacement Defense mechanism

A patient says, "It doesn't feel like it's really happening to me. Sometimes I forget about it and feel like I did before."

Dissociation Defense mechanism

A genetic counselor is seeing a woman who recently had a termination due to Trisomy 13. The counselor asks the woman how she been feeling since the procedure. The patient tells the counselor she's fine--she says she went back to work a couple days later and explains "It wasn't a big deal really."

Distancing: Acting as if nothing happened Coping style

Echogenic Bowel-differential

Down syndrome Cystic Fibrosis IUGR Infections-CMV

Methods to work with resistance

Empathy. Self protection. Countertransference. Normalize. Affirm patients dignity, integrity, and sense of responsibility whenever possible

impact on baby from maternal use of lithium

Epstein's anomaly (heart defect)

A 40-year-old woman with Li-Fraumeni syndrome comes for genetic counseling after testing confirms that she has a TP53 mutation. Her asymptomatic 18-year-old son is also found to have the same mutation. The mother repeatedly suggests that gene therapy should be available soon to repair the gene for her son and that perhaps his test should be repeated in case there was a mix-up at the laboratory.

Escape Avoidance Coping style

Familial adenomatous polyposis (symptoms/risks)

FAP; >100 polyps before 40yo; Desmoid tumors, dental anomalies, CHRPE; Nearly 100% risk of CRC if untreated, increased risk of small bowel, stomach, pancreatic, thyroid

Hereditary leiomyomatosis and renal cell carcinoma

FH (biallelic causes fumerase deficiency with progressive neurologic impairment); Cutaneous leiomyomas, uterine fibroids; Papillary RCC: 10-20%; Annual derm, GYN, abdominal MRI/CT

Birt-Hogg-Dube

FLCN; Cutaneous manifestations, pulmonary cysts, hx pneumothorax; Renal: 15-30%; Periodic abdominal MRI/CT

Sex bias in NTDs

Females > males with anencephaly Males > females with lower spinal lesions

Cognitive Theories

Focus on changing thinking. teach specific techniques.

Consumer Information Processing Theory

Focuses on process by which individuals, as consumers, acquire and use information ii. theory recognizes there are limits to the amount of information individuals can acquire, their decision making process, and remember

Carrier frequency of Gaucher, Tay-Sachs, dysautonomia, and Canavan disease in Ashkenazi Jewish

Gaucher: 1 in 15 CF: 1 in 30 Tay-Sachs: 1 in 30 Dysautonomia: 1 in 32 Canavan: 1 in 40

Beckwith-Wiedemann

Gene: CDKN1C, H19, KCNQ1 *IMPRINTING DISORDER Inheritance: AD, Paternal UPD (20%) hemihypertrophy, macrosomia, macroglossia, omphalocele, neonatal, hypoglycemia, ear creases/pits, visceromegaly, adrenocortical cytomegaly, renal abnormalities Tumor predisposition: wilms tumor, hepatoblastomas, neuroblastomas, adrenocortical carcinomas, rhabdyomyosarcomas Screening: AFP and abdominal CTs until about 8 yrs

Myotonic Dystrophy Type 1

Gene: DMPK (19q13.32) Inheritance: AD Clinical Feat: Multisystem disorder of skeletal and smooth muscles, eyes, heart, endocrine system and CNS with 3 subtypes 1) Mild: cataracts and mild myotonia w. normal lifespan 2) Classic: muscle weakness/wasting, myotonia, cataracts, cardiac conduction issues, adults may become physically disabled and have shortened lifespan 3) Congenital: hypotonia and generalized weakness at birth, often with respiratory insufficiency and early death, MR is common Testing: CTG triplet repeat Normal: 5-34 repeats Premutation: 35-49 repeats Full penetrance: >50 repeats **anticipation is more common thru maternal transmission**

Medical/ Preventative Model

Genetic Counseling of Mid-1940s Model of prevention based on empirical observations of families to avoid recurrence of disorder, providing information for families to make rational decision to not reproduce

Silence

Give the client time to respond, as they may not be ready to put into words certain thoughts or reaction

MAP (MYH associated polyposis)

Greatly increased risk of colorectal cancer (43%-100%), associated with ten to a few hundred colonic adematous polyps that are evident at mean age of about 50 years -Between 1-10 polyps under age 40 -More than 10 between age 40-60 -More than 20 over 60 Autosomal recessive inheritance with common biallelic inheritance (test parents) in MYH gene low MSI instability

Random info about grief

Grief blocks intake of information.

Narrow/focused questions

Guide the client toward specific moments or circumstances. Specifically crafted questions may bring the discussion closer to the heart of an issue

A woman learns that her son's diagnosis of DMD is an X-linked condition and she is a carrier. She tells the counselor, "I feel terrible knowing it was my genes that did this to him. I passed this on and made him sick."

Guilt Reaction to bad news Focus on what was done/not done, feels responsible

Omphalocele

Gut is in a sac outside of the addominal cavity cannot diagnose before 12 wks increased risk for BWS

Which marker is most sensitive for T21 and which is most sensitive for T18?

HCG for T21 Estriol for T18

Diandric triploidy analytes in 2nd TM

HCG, AFP, and inhibin all very high with normal estriol Will screen + for both T21 and NTDs

What is the recommended screening for Tay-Sachs disease in all ethnicities?

Hexosaminidase A analysis (much more sensitive for all ethnicites)

Anencephaly analyte pattern

High AFP, decreased estriol (others not considered)

Hereditary Diffuse Gastric Cancer Syndrome

High risk for diffuse type gastric cancer and lobular type breast cancer (56% to age 80 for men, 70% for men, family history pattern is positive Gene involved: CDH1 (e-cadherin protein)

Echogenic Bowel

Higher the density, higher the chance of abnormality Echogenic bowels in fetuses resolve in normal outcomes

loss >20 weeks

IUFD

Mismatch repair gene

Identifies and repairs DNA errors made during replication; Gatekeepers and caretakers; Ex. Xeroderma pigmentosum, ATM, Lynch genes

Plan

Identify and follow action plan

Positive Reappraisal

Identify existing or potential positive outcomes

Recurrent references

If a client repeatedly brings up a concern, an issue, or a question, this area should be given special attention

Beckwith-Wiedemann Syndrome (BWS)

Imprinting; caused by having 2 active copies of region 11p15, when maternal should be imprinted; usually sporadic; can be caused by maternal chromosomal rearragnements, paternal uniparental disomy, or abnormal methylation; macroglossia, high birth weight and length, umbilical hernia, increased risk of cancer

Denial

Inability to acknowledge to oneself certain information or news Common response when the information elicits shock and fear short term and is part of a coping strategy applied to impending or actual loss

Which ultrasound finding, when isolated, confers the highest risk for aneuploidy?

Increased nuchal fold (>6 mm); has LR 11-18.6 for T21

Pattern of HcG levels throughout pregnancy

Increased until 10 weeks gestation, then decreases throughout pregnancy

Pattern of Ue3 (estriol) throughout pregnancy

Increases

Pattern of AFP levels throughout pregnancy

Increases throughout pregnancy

Pattern of PAPP-A levels throughout pregnancy

Increases throughout pregnancy

Prader-Willi Syndrome (PWS)

Inherited from the father; characterized by reduced motor function, obesity, mental deficiencies; resultes form lack of expression of a singel gene SNRNP which encodes a small nuclear ribonuceloprotein which is a complex that controls gene splicing. Offspring does not carry active copy of PW gene.

A man accompanies his wife to her genetic counseling appointment and they learn she is positive for a BRCA1 mutation. He asks the counselor, "What percent of women with this mutation develop breast cancer? What testing methodology was used to detect the mutation? How does this mutation affect the gene?"

Intellectualization Defense mechanism

evaluating for alpha-thal trait

Iron studies should be ordered on patients with low MCV and normal hemoglobin evaluation to rule-out iron deficiency. OB and patient need to be reminded that if MCV stays low after a period of iron supplementation, then likely that patient has alpha thal trait. Beta thal trait can mask alpha thal trait when co-inherited

Prejudice

Irrational dislike and or negative judgement of a particular social group

Li-Fraumeni syndrome (criteria)

LFS tumor <46yo AND F/SDR with LFS cancer <56yo or multiple primaries; OR LFS tumor <46yo and multiple LFS-related primaries; OR breast cancer <31yo

What is the likelihood ratio (LR) calculation?

LR = % affected having this result / % unaffected having this result

Gastroschisis

Lateral abdominal wall defect, no covering sac more common in males associated with younger mothers, smoking risk for IUGR

Cowden Syndrome

Lifetime risk of ~35% to develop thyroid cancer, associations with benign thyroid disease (adenoma, multinodular goitar) Other cancers and family history clues: breast cancer, endometrial cancer, follicular thyroid cancer, GI hamartomas, macrocephaly, mucocutaneous lesions, macular pimentation, autism, colon cancer, lipomas, renal cell carcinoma, intellectual disability, vascular anomalies Gene involved: PTEN

Prader-Willi Syndrome

Loss function chromosome *15* *Obesity*, low muscle tone Feeding/articulation/intellectual disabilities, behavior problems

Quad screen analytes for Trisomy 18

Low AFP, HCG, and estriol (inhibin not considered)

Multiple endocrine neoplasia type 1

MEN1; Parathyroid: 90% by 25yo; Pituitary, pancreatic islet cell, adrenocortical, meningiomas, lipomas; 5yo: pituitary screen, head MRI; 8yo: parathyroid screen; 20: abdominal CT/MRI

Hereditary papillary renal cell carcinoma

MET; Risk for multiple bilateral renal tumors

screening: sephardic jewish and other non-AJ

MEVR: 1/3-1/7 in N. african and Iraqi jews

Lynch syndrome (genes)

MLH1/PMS2; MSH2/MSH6; EPCAM

impacts on baby from maternal use of anticonvulsants (phenytoin, carbamazepine, trimethadione, valproate, barbituates)

Major Malformations: NTDs, heart defects, clefting, limb defects Other features: hypertelorism, nasal differences, fingernail hypoplasia, "cupid's bow" lip, DD, neurobehavioral differences

Multiple Endocrine Neoplasia Type 2

Medullary thyroid cancer risk, pheochromocytomas, Hyperparathroidism (elevated blood calcium, hypercalcemia=osteoporosis, kidney stones, fatigue, generalized aches, depression, impaired concentration, constipation, hypertension) -MEN2A -MEN2B -FMTC RET testing offered to all patients with medullary thyroid cancer

Leber hereditary optic neuropathy

Mitochondrial disorder creates a defective enzyme responsible for converting oxygen, fats, and simple sugars to energy. Characterized by vision loss.

Framing heuristic

More sensitive to loss than gain. Patient woudl risk more to avoid loss than to achieve equal gain. ex: will chose medication with side effects if it saves their life but will not engage in cancer screening to live longer

Malformation

Morphological defect in of an organ, intrinsic abnormal development process

Choroid Plexus Cysts

Most common US findings About 45% of T18 have CPCs (and other findings)

Absent or short nasal bone

Most common in DS

Short Humerus/Femur

Most common in achondroplasia

Fanconi anemia

Multiple genes including BRCA2 (*AR*); Aplastic anemia, bleeding, bone marrow failure, absent thumbs, skeletal deformities, renal malformations; 785x risk of AML; Multiple SCC, head, neck, esophagus, cervix, vulva, liver

Neurofibromatosis type 1 (risks)

NF1 (50% de novo); Learning disabilities; Lifetime cancer risk: 2-5%; Optic gliomas, neurofibrosarcomas, breast

Neurofibromatosis type 2

NF2 (50% de novo); Bilateral vestibular schwannomas, schwannomas in cranial/peripheral nerves, meningiomas, juvenile posterior subcapsular cataracts; Usually early death d/t brain/spine involvement

What is Sequential screening?

NT measurement, blood sample in 1st and 2nd trimester -Results reported after part 1 analyzed and again after part 2 analyzed

What is Contingent screening?

NT measurement, blood sample in 1st trimester -Part 2 drawn only for patients at an intermediate risk -High risk patients referred for diagnostic testing -Low risk patients don't have part 2

Rett Syndrome

Neurodevelopment of child (girl, as boys die in utero) fails between age 1-4, with poor head growth

A pregnant woman is undecided about pursuing invasive testing. She asks, "If I were your wife, what would you tell me to do?" The counselor replies, "I don't know what I would do, but I do know what concerns I would think about."

Nondirective counseling

Diandric triploidy analytes in 1st TM

Normal PAPP-A Very high HCG

Thanatophoric dysplasia fetal US findings?

Normal bone brightness. Severe limb shortening and chest narrowing. Pronounced polyhydramnios.

Most likely outcome of an MS-AFP screen of 3.5 MoM

Normal liveborn

Mortality rate

Number of deaths per year per 100,000 people

Incidence

Number of new cases of a disease per year

Projective countertransference

Occurs when a counselor has made assumptions about the experience of the patient

Acceptance stage 5

Often confused with being alright- but it's accepting the reality that loved one is actually gone and recognizing this new reality is the permanent reality

Complicated grief and it's 4 types

Ongoing inability to experience normal grief reaction 1. exaggerated grief- worsen with time. excessive and disabling. 2. masked grief- symptoms appear absent or unrelated to the loss. can include medical symptoms or aberrant behavior 3. Chronic grief- prolonged, unable or unwilling to move on 4. Delayed grief- postponed, inhibited or suppressed. Later loss may trigger reaction out of proportion to meaning of that loss

Familial adenomatous polyposis

Onset with hundreds of polyps forming in colon and rectum (at least 10-20 cumulative) -Mostly inherited -Classic (polyps at age 16) Cancer by 50 vs Attenuated (start of disease later in life and fewer than 100 polyps develop) -Hepatboblastoma -Desmoid tumor -Genetic testing of APC gene

Beckwith-Wiedemann

Overgrowth disorder in children, tongue, viscera, hemihyperplasia, abdominal wall defects, ear pits and creases. Pancreatic hyperplasia leads to neonatal hypoglycemia and MR Airway and feeding difficulties, Methylation abnormalities/imprinting disorder 11p15.5 (need mom, dad is shut off) -Childhood embryonal tumors (7.5%), Wilms (Kidney), hepatoblastoma, neuroblastoma, rhabdomyosarcoma

Acute-Promyletoic leukemia

PML/RARA fusion involved with this type of cytogenetic cancer

Russell-Silver Syndrome *Uniparental disomy chrom 7, some sporadic

POOR GROWTH GERD Small ht and wt with NORMAL HC Triangular face Cafe au lait spots Delayed bone age Hemihypertrophy

Gorlin syndrome

PTCH1; Multiple BCC, benign jaw tumors, coarse facies, skeletal anomalies (polydactyly, clefting), medulloblastomas/fibromas; Annual derm and developmental exams

Cowden syndrome (symptoms/risks)

PTEN; Lhermitte-Duclos disease, hair follicle tumors, macrocephaly, autism, ID, fibromas, fibroids, penile macular pigmentation; Breast: 25-50%; Follicular thyroid: 3-10%; Endometrial: 5-10%; Clear cell RCC, melanoma, colon: increased

PALB2

Partner and localizer of BRCA2, risk for breast cancer higher AR disease: Fanconi Anemia

Prader-Willi

Paternally expressed gene in 15q11-13 (SNURF-SNRPN) hypthalmic insufficiency, dd, hypotonia, FTT, obesity, hypogonadism 3-5 MB deletion (70%) matUPD (15%) IC defect (1-2%)

Transference

Patient to provider.

Shame

Patients experiencing XXX will often attempt to reduce the psychological challenges to the self by means of denial and withdrawal

Heuristics

Patients use "rule of thumb" to simplify risk estimates. Taking cognitive shortcuts. Biases from personal experiences. Used often with information overload situations

Guilt

Patients who hold themselves responsible for what they perceive as a negative outcome will frequently attempt to correct their XXX through self-blame, rationalizations, or other intellectualizations

HBOC (criteria)

Phx of breast dx <45yo; Phx of breast dx <50yo and another relative with breast; Phx of breast and fhx ovarian/panc/male breast; Phx male breast; Phx ovarian; Phx metastatic prostate

A young woman is given a diagnosis of NF1. She is newly married and was hoping to start a family soon. After learning her diagnosis, she begins researching the possible expression/symptoms of NF1, she starts looking into PGD and makes an appointment with a prenatal counselor. She also schedules an appointment with her PCP to discuss the diagnosis with him and come up with a management plan.

Planning Coping style

Polytopic field defect

Porter syndrome

A woman brings her son for his yearly medical genetics appointment to discuss his diagnosis of Prader-Willi syndrome. The woman tells you that she is grateful for the patience she has learned to have due to her son's condition and the wonderful network of friends and support systems she has met because of his diagnosis.

Positive Reappraisal Coping style

2009 ACOG guidelines for SMA carrier screening

Preconception/prenatal screening for SMA not recommended in general population, but can be offered to patients who request it.

Special issues when counseling those with ID

Pregnancy is the great equalizer. May see physical disability as worse than intellectual. *Shift the focus to feelings instead of facts See table 2 pg 288 on strategies- use 3rd party for information, minimize risk discussion, elicit feelings and attitudes about decision, summarize and rephrase to verify decisions, minimize analogies, non judgmental language Guardianship is situation specific- ask questions Involve support system more directly and adjust your goals for the session

Autonomy

Principle that people should make medical decisions free of physical, social, political, economic, and psychological constraints.

A man calls a prenatal counselor on the phone to discuss his wife's positive NIPT result for Turner syndrome. He tells the counselor, "I'm not very worried, but my wife is extremely anxious about the result. I think this has really upset her."

Projection Defense mechanism

A patient tells the genetic counselor about her recent experience battling breast cancer. She is currently in remission and has had a difficult time in the past but does not express any outward emotion. However, the counselor feels exhausted and sad.

Projective identification (inducing repressed emotion in others) Defense mechanism

Decision- Making Model

Promotes patient autonomy. Genetic counseling model shifted from providing information for patient to make "rational" decision to interactive process regarding decisions on reproduction, testing, or managment that are consistent with their own needs and values.

Survival rate

Proportion of people alive at some point subsequent to their diagnosis

Family Systems-Illness Model

Provides a prospective on the interactive processes of the psychosocial demands of the illness, family beliefs, and family functioning Inclusion of belief systems in a family response is essential to the facilitation of effecting coping and adaptation to illness

Delaying

Puts off thought and action on a problem until later

Smith-Magenis Syndrome

RAI1, 17p11.2, AD hypotonia, brachydactyly, sleep problems, self hug, lick and flip, coursening face 17p11.2 deletion 90%

Retinoblastoma

RB1 (40% de novo); Malignant tumor (usually bilateral) in retina occurring usually before 5yo; Risk of osteosarcoma, melanoma

Multiple endocrine neoplasia type 2

RET (50% de novo) Medullary thyroid: 90%; Pheochromocytoma: 50%; MEN2A: parathyroid adenoma; MEN2B: Marfanoid habitus, neuromas of lips/tongue; Prophylactic thyroidectomy, surgery PRN

After an amniocentesis, a patient learns that her fetus has Down syndrome. Prior to the procedure, she had told the counselor she was afraid of having a child with Down syndrome because they "seem like so much work" and "she doesn't have time for that." But after hearing the results, she tells the counselor, "I'm so happy that I will be blessed with a special needs child."

Reaction formation (redirecting "unacceptable emotions" by expressing more "acceptable" response) Coping style

While taking a family history, a patient tells you "she only has one sister." Later, while speaking to the patient's mother on the phone, you learn that your patient actually had a second sister who died due to severe congenital anomalies.

Repression (emotions/memories kept from reaching the surface) Defense mechanism

Tumor suppressor gene

Responsible for halting growth of damaged cells; Inactivation of these genes may lead to tumors (two-hit hypothesis); Ex. most hereditary cancer genes (BRCA1/2, NF1, APC)

Diastrophic Dysplasia

SLC26A2, sulfate transporter, AR limb shortening, hitch-hiker thumbs, club feet seq. finds 65%

How does SMN2 copy number relate to SMA?

SMN2 copy number may influence phenotypic variability in SMA, but is not applicable to carrier screening

Peutz-Jeghers syndrome (symptoms/risks)

STK11; Multiple GI hamartomas, hyperpigmentation of mouth/lips/nose/eyes/genitalia/fingers; Lifetime cancer risk: 85%; Breast: 45-50%; Colon: 39%; Pancreatic: 11-36%; Stomach: 29%; Ovarian: 21%; Sex cord tumors, small bowel, uterine: increased

What is population-based screening?

Screening for common genetic diseases offered to the general population

What is pan-ethnic screening?

Screening for dozens to hundreds of genetic diseases offered to general population

What is ethnicity-based carrier screening?

Screening limited to groups of people determined to be at higher risk for specific genetic disorders

Cystic Hygroma

Second trimester congenital malformation of lymphatic system

Characteristics of those with ID that may impact session

See Table 1 pg 284 Concreteness (here and now, rigid black and white, difficulty imagining future or abstract ideas, fantasy and reality combine) Irreversibility (difficulty with reverse thinking, lack of consistent views) Egocentrism (think and act on own needs, unable to take perspective) Centering (focuses attention on one detail)

Special issues for children/adolescents

See pg 272. Transition to adult care, pregnancy

A woman's son was just diagnosed with achondroplasia. She calls her mother and two best friends shortly after the diagnosis in order to explain the situation and get their advice and support.

Seeking social support Coping style

Tamoxifen (and arimidex)

Selective estrogen receptor modulators for ER/PR+ tumors; Reduces risk of recurrence/second primary by ~50%; Increases risk of endometrial cancer; May be used as chemoprevention

A genetic counselor's mother recently passed away from breast cancer. When seeing a young patient with a BRCA1 mutation, the counselor realizes she is becoming emotional while thinking of her mother but is able to refocus on the patient after acknowledging her reaction internally.

Self-awareness

A man comes to genetic counseling to discuss his diagnosis of HCM. When you ask him how he's handling the news, he says he's "Fine" but nothing else. Throughout the session he offers very limited responses and maintains expressionless composure.

Self-controlling Coping style

Caudal regression

Serenimelia

A woman brings her son to medical genetics clinic for an evaluation. He is 2 years old and beginning to fall behind in language and development. He has some odd behaviors and hand gestures and throws excessive tantrums. She tells the counselor that she has stopped bringing him to the weekly play group she had set up with her friends and their children because she doesn't want them to see how different he is from their children.

Shame Reaction to bad news Focus on self, feeling judged or exposed

2008 ACMG guidelines for SMA carrier screening

Should be offered to ALL COUPLES

Tay-Sachs molecular testing recommendation for French Canadians

Start with del/dup analysis for common deletion in promoter/exon 1 in this population rather than sequencing

Increased NT and Cystic Hygroma

Subcutaneous collection of fluid at the back of fetal neck 10-14 weeks <95th percentile 3.0mm-3.5mm

A woman has had three miscarriages in the past year and feels extremely frustrated and angry as she sees many of her friends posting Facebook photos of their young children and newborns. She doesn't say anything to her friends but begins taking kickboxing classes as an emotional outlet.

Sublimation Defense mechanism

Turcot syndrome

Subtype of Lynch and FAP syndrome; CRC/polyps plus brain tumors; FAP: medulloblastomas; Lynch: glioblastomas

Muir-Torre syndrome

Subtype of Lynch syndrome associated with MSH2 and MLH1; All features of Lynch plus sebaceous adenomas

Relative survival rate

Survival rate adjusted for expected mortality (factor out those who were/are expected to die from other causes)

common mechanism for a-globin gene deletions

Suspected mechanism for whole gene deletion is misalignment during homologous pairing and recombination of chromosome 16

TNM staging

T indicates size of the primary tumor (T1-T4, T0 indicates in situ); N indicates regional lymph node involvement (N0 no nodes, N1-N3 regional to distant involvement); M indicates metastasis (M0 none, M1 yes)

Loeys-Dietz

TGFBR1/2 aortic aneurysm - dilation and dissection- tortuosity arachnodactyly Pectus, scoliosis, dural ectasia face: wide eyes, bifid uvula, craniosynostosis skin- translucent skin, bruising, scars no ectopia lentis

Li-Fraumeni syndrome (risks)

TP53; Lifetime cancer risk: 90% women, 70% men (50% by 35yo); Sarcoma, breast, brain, leukemia, adrenocortical tumors

Recommendation for women with 1 previous child with NTD

Take 4 mg folic acid (100x normal dose) to reduce recurrence

screening: French Canadian/Cajun

Tay-sachs: 1/30 (common 7.6kb deletion) CF:

Optimistic bias (heuristic)

Tendency of average person to believe that they are at less than average risk Ex: since patient is healthy they continue to believe their baby is not at increased risk for birth defects despite being 43 during pregnancy

Outcome bias (heuristic)

Tendency to judge a decision by its eventual outcome rather than the quality of the decision at the time it was made. ex: Patient regrets having brca testing because a VUS was found

Omission bias (heuristic)

Tendency to judge harmful action (commission) as worse than equally harmful inaction (omission). ex: patient refuses testing for familial Lynch mutation because they believe they will lose their life insurance

MLPA

Test for monogenic disorders - good for detecting large deletions and insertions.

Empathy

The capacity to understand what another person is experiencing from within the other person's frame of reference Comprehending the momentary psychological state of another person

Omission

The client neglects to include relevant information

Empathic break

The experience of a shift in the relationship dynamics or a sudden loss of an empathic connection May be conscious and unconscious perceptions (issues of boundaries, autonomy, etc) or even simple interruptions in the counseling session (phone calls, etc.)

Autonomy

The outcome of a counseling experience where an enhanced decision-making climate is promoted through information, empathic attunement, and professional guidance.

Prevalance

Total number of cases in the population

conditions screened with TORCH titer?

Toxoplasmosis, other, rubella, CMV, herpes (types I and II)

Disruptions

Transference, countertransference, emphatic breaks.

Confrontive coping style

Try to change the opinion of the person in charge

genetic conditions that can cause infertility

Turner, Klinefelter, CF

Pattern of Inhibin A throughout pregnancy

U-shaped curve in 2nd trimester (rise until 10 weeks, falls & is stable 15-25 weeks, then rises again)

Digynic triploidy analytes in 1st TM

Very low PAPP-A and HCG Will screen + for T18

Digynic triploidy analytes in 2nd TM

Very low estriol, inhibin,& HCG; normal AFP Will screen + for T18

Common pitfalls in GC

Wanting to be liked Asking too many closed-ended questions Reluctance to control the agenda Avoiding emotionally charged issues

CML

What cancer is the philadelphia chromosome responsible for creating t(9;22) present in 95% that has BCR/ABL fusion

1.) MSI/MMR histochemistry (MSH2/MSH6 complexes, where MSH6 is absent if MSH2 is), (MLH1/PMS2 complexes where PMS2 is absent if MLH1 is absent) -MSH2 causes loss of MSH6 -MLH1 causes loss of PMS2 2.) BRAF (sporadic) 3.) If BRAF neg, methylation neg, proceed to MMR genetic testing

What is the testing algorithm for lynch syndrome?

Family History Basics

Who: person that the evaluation is being performed or whom you are providing genetic counseling What: Identify reason for referral on pedigree and ask targeted questions based on referral indication; ex: AMA- any individual with cognitive impairment, birth defects, and/or inherited diseases Where: Obtain pedigree in environment that is comfortable for patient and private When: Can be done face-to-face or via questionnaire Other notes: -Three generation is standard, should include historian of family information, name of provider taking pedigree. -As relatives are of further degree of relationship information may be less accurate -E (standard abbreviation) can be used to denote evaluations, make a key when using any abbreviations

OTC deficiency

X-linked urea cycle disorder vomitting, seizures, hypotonia high ammonia (CHECK FOR HYPERAMMONIA IN MOM) respiratory alkalosis poor feeding can be activated by extreme stress in adult onset cerebral edema, papilledema, lethargy, coma

Syndrome

a constellation of major and minor anomalies is observed together, in a predictable fashion, presumably as a result of a single underlying etiology (monogenic, chromosomal, mitochondrial, or teratogenic in origin)

what is isolation of affect?

a defense mechanism in which you "think the feeling" instead of feeling it. ex. "i guess i'm angry at him" vs. expressed and experienced anger

Paralytic

a person what accepts responsibility for a decision but is unable to set the process in motion to make the decision "I know I should but I just can't get with it"

Fatalistic

a person who leaves the decision to the environment or to fate "whatever will be, will be"- other forces outside of personal control have influence

Planful

a person who take a rational approach to decision making, balancing cognitive, emotional, and situational considerations

Impulsive

a person who takes the first available alternative without looking at other alternatives or collecting the pertinent information

Southern Blot Analysis

a procedure for identifying specific sequences of DNA, in which fragments separated on a gel are transferred directly to a second medium on which detection by hybridization may be carried out. -provides info about size -detects repeats, deletions, insertions -may ID heterozygotes -will not ID point mutations -lots of DNA, time, labor intensive -still sometimes used for FX and Friedreich's

Compassion Fatigue

a state in which the counselor lacks emotional strength, experiences languor, sluggishness, exhaustion, and loss of vigor, vitality, and energy. Sense of being tired of helping others and finding it difficult to act out of compassion

contracting

a verbal statement about how goals will be met. A plan to be negotiated between the counselor and individual client. Usually include a time component, and may be revised.

Identify ways for managing countertransference

a. Accept the inevitability of countertransference- accepting, nondefensive attitude b. Locate source of feelings c. Seek supervision assistance d. Discuss reactions with client- do not shift focus, do not disclose intense countertransference e. Engage in self reflection and seek feedback f. Seek personal counseling if countertransference is pervasive and unmanageable

different types of hemoglobin (4)

a2e2: embryonic a2y2: fetal a2b2: Hb A a2d2: HbA2

Alpha-thal statuses (5)

aa/aa: normal aa/a-: silent carrier a-/a- or aa/--: alpha-thal trait a-/--: Hb H disease --/--: alpha thal major (Hb Bart's)

Clinical specificity

ability of the test to discriminate between those with suspected phenotype or disease, and those without it.

Clinical sensitivity

ability to detect disease given the disease is present. The frequency of positive tests when the disease is present

Clinical validity

ability to predict the presence of the associated disorder or phenotype. Percentage of patients who are correctly classified as having the disease or not.

Operational thinking (concrete and formal)

ability to think about the future, hypothesize about events, determine inconsistencies. Around age 8. Abstract thought still immature at that age. Formal operational thought starts around 11 and goes through 15-20 years.

imprinting defects

abnormality of the parent-of-origin specific gene regulation - abnormal epigenotype, maybe associated w/ mutations

What % of stillbirths & neonatal deaths are due to aneuploidy?

about 7%

signs of down syndrome in 1st trimester u/s

absent nasal bone, increased NT

Spontaneous

active communicators respond easily and expressively, tend to use humor and denial as defense mechanisms, need to encourage to express true feelings

indications for prenatal testing

advanced maternal age, abnormal U/S, personal or family hx of genetic disorder or carrier, teratogen exposure, abnormal serum screen, abnormal cfDNA/NIPT, maternal conditions (Rh status, diabetes)

Projection

an attempt on the part of the patient to displace on to the counselor a feeling that has the potential to burden the "self"

what can we learn from a second trimester u/s?

anatomy, growth parameters, amount of amniotic fluid, gender

Antecedent vs response focused anger regulation

antecedent focused- things people do before emotional response tendencies are fully activated and have changed their behavior (selection of situation, modification of situation, deployment of attention, change of cognition (reappraisal). Response focused- things you do once an emotion is already underway (modulation of experiential, behavior or physiological responses (ex: suppression)

How to help complicated grief

anticipatory guidance. normalize. participate in rituals. be with others. talk about it. express yourself. exercise. eat right. support groups. create memorial. write letters.

Associative countertransference

arises in that empathically attuned moment in a session when a patient shares an experience, a loss, a wish, or a story that carries the counselor into her inner self.

close-ended questions

asks for yes/no answers or for specific details - does not encourage elaboration

Bargaining stage 3

attempt to strike a deal to relive suffering. Last ditch effort to control life or force it in desired direction

Shame

attempting to correct feelings of guilt. Placing a burden of the self.

Questions- (why me?)

attempting to share an emotional reaction and discover the meaning of the event. Address emotion rather than providing information. Appreciate the loss

Health Belief Model

attempts to explain and predict health-related behavior in the context of certain belief based on the assumption that the degree of "fear" or "threat" of a disease or condition is a patterns powerful motivating force to behavior

Resistance

attitudes, behaviors, emotions and ways of thinking by which a patient limits full engagement with the process of GC. May also include ambivalence, an inability to make a decision in the face of mutually conflicting possibilities. Generally serves a self protective function.

22q11.2 deletion syndrome inheritance

autosomal dominant (most happen by chance though)

Ambiguity effect heuristic

avoidance of options with incomplete information. ex: patient declines prenatal screening because it won't give definite answer

Medical Family Therapy

biopsychosocial treatment of families dealing with medical problems. 2 goals: Agency (active participation in self care) and Communion (ealing with emotional connections btw individual and family)

Synthesizers

can take in info that confirms and challenges their framework can use large amounts of info to make decisions

Lynch Syndrome

cancer predisposition syhndrome affecting increased 50-80% risk for colon cancer before age 50 caused by germline pathogenic variant in one of four mismatch repair genes (MMR) -MSH2 -MSH6 -MLH1 -PMS2 MLH1 and MSH2 variants account for approximately 90% of pathogenic variants -Germline deletions in EPCAM inactivate MSH2

what accounts for over 50% of miscarriages in the first trimester?

chromosomal abnormality

types of unresolved grief reactions

chronic and prolonged - intense grief reactions triggered by events through the person's life delayed - initial absence of grief often w numbness, followed by an intense reaction weeks, months, years later exaggerated - overly excessive grief reaction, can be disabling masked - denied grief, manifests as physical or other emotional symptoms

Trisomy 18 clinical presentation - hands and feet

clenched fists, rocker bottom feet

Transference

client to counselor. patterns of expectations that interfere with relationship building. Unconscious. Bringing old patterns of expectations to new situations.

Grief & Despair

common responses to loss or anticipated loss.

1975 ASHG Genetic Counseling Definition

communication process which deals with the humans problems associated with the occurence or risk of occurence of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual or family to: (1) comprehend the medical facts including the diagnosis, probable course of the disorder, and the available management (2) appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives (3) understand the alternatives for dealing with the risk of recurrence (4) choose a course of action which seems to them appropriate in their view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision, and (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

Theory of Reasoned Action

concept of behavioral intention is central to the theory and represents the final step in the process before action takes place ii. attitudes toward the behavior and perception of social norms favorable to the behavior influences one's behavioral intention

Preoperational development

concrete information a child can see or hear rather than logical thinking (childhood)

Denial stage 1

coping mechanism. blocks the conscious recognition of specific information. Avoidance of emotions that can hinder healing process. Minimization.

Mutual Participation model

counselor and (adult) client have approximately equal power as adults, are mutually independent, and engage in activity that will be satisfying to both. Counselor assists client to help themself and enhances autonomy.

mutual participation model

counselor and counselee have approximately equal power, counselor assists counselee to help him/herself, counselor and counselee work as equal partners in seeking solutions

life history/narrative model

counselor and counselee possess dual roles - counselor is both interviewer and listener, and counselee is both respondent and narrator

Projective countertransference

counselor has made an assumption about the experience of the patient.

Emotional contagion

counselor seems to involuntarily experience or "catch" the same emotional being experienced by another

Countertransference

counselor to client. the reaction or response to transference. Counselor's reaction to client's story, her defences and emotions or transference. Two types- associative and projective.

Accept Responsibility

criticize oneself

Accepting responsibility

criticizing oneself

possible tests after CVS

cytogenetics - karyotyping, chromosome microarray; DNA sequencing - gene or gene panel sequencing, targeted mutation analysis

possible tests after amnio

cytogenetics, DNA sequencing, AFAFP for NTDs, biochemical testing

What can we learn from a first trimester U/S?

dating pregnancy, number/location/size of pregnancy, nuchal translucency

Beta-plus mutations

decreased amount of B-globin (promotor mutn, less severe amino acid change)

Disruption

defect in an organ or part due to interference from extrensic factors eg alcohol

what is displacement?

defense mechanism Displacement involves taking out our frustrations, feelings, and impulses on people or objects that are less threatening. Displaced aggression is a common example of this defense mechanism. Rather than express our anger in ways that could lead to negative consequences (like arguing with our boss), we instead express our anger towards a person or object that poses no threat (such as our spouses, children, or pets).

what is reaction formation?

defense mechanism Reaction formation reduces anxiety by taking up the opposite feeling, impulse, or behavior. An example of reaction formation would be treating someone you strongly dislike in an excessively friendly manner in order to hide your true feelings. Why do people behave this way? According to Freud, they are using reaction formation as a defense mechanism to hide their true feelings by behaving in the exact opposite manner.

what is sublimation?

defense mechanism Sublimation is a defense mechanism that allows us to act out unacceptable impulses by converting these behaviors into a more acceptable form. For example, a person experiencing extreme anger might take up kick boxing as a means of venting frustration. Freud believed that sublimation was a sign of maturity that allows people to function normally in socially acceptable ways.

Deferral vs. Dismissal (confused with denial often)

deferral- parent accepts clinical findings but ignores implications. postponing action. dismissal- displaces the focus of situation from the diagnosis to the "legitimacy of the purveyors". anger at health care professional.

Projective identification

describes a complex defense mechanism that is triggered when the meaning of an event is extremely psychologically challenging to the patient the counselor, who is the object of the projected feeling, finds some congruence in the feeling - counselor becomes a temporary repository of the feeling state that is unacceptable to the patient occurs when you mistakenly believe that your feelings are your client's feelings. Also occurs when you have the misperception that you understand exactly what a client is going through b/c you have had similar exp.

impact on baby from maternal diabetes

diabetic embryopathy- macrosomia, caudal regression, heart defects

Hydronephrosis

dilation of the fetal renal pelvis 17-25% of DS fetuses

sublimation

direct feeling into a socially acceptable outlet - boxing, writing poetry, etc.

Family centered GC

doesn't not typically have family problem solving at it's center. maximizing the extent to which fam or ind are informed about genetic health and participate in supportive ways to decision making. About exploring attitudes and beliefs about illness, pregnancy and children, grief and loss

other abnormalities visible in second trimester u/s

double bubble - duodenal atresia, heart defects

Early, full, late, and post term

early: 37w0d to 38w6d full: 39w0d to 40w6d late: 41w0d to 41w6d post: >42w0d *per ACOG

Anger

emotion that seeks to blame, or wish to achieve revenge. Can be subtle or overt. Common response to feeling fear, powerlessness, guilt, shame or extreme anxiety.

Anger stage 2

emotional reaction to grief. turned inward can become depression. Important to express it in a healthy way

Continuing responses

encouraging the student to talk

Seek social support

engage in conversations in the hope of learning more

Seeking social support

engaging in conversation in the hope of learning more

prenatal dx of tay-sachs

enzyme analysis of villi of amniocytes AND/OR DNA analysis

Justice

equitable distribution of burdens and benefits of health care

Explosive

express everything are feeling in overly intense ways may lack interpersonal boundaries

Reserved

express feelings to limited extent, do not allow full expression, can draw out with primary and advanced empathy reflections of feelings with questions

Adherence and nonadherance

extent to which a patient follow the advice and recommendations provided. replaces terms compliance and non compliance. (factors influencing it and methods to encourage it pg 169)

Minor anomalies

features that vary from those seen in all but a small percentage of the normal population but in and of themselves do not cause increased morbidity

risks for baby from maternal exposure to alcohol

fetal alcohol syndrome - intellectual disabilites, dysmorphic features, ASD

Open-ended questions

framed to invite the client to respond as expansively or as specifically has he/she chooses

Explanatory model of health

framework of ideas about health and illness. affect ideas about causes of health and behaviors in the face of disease and dysfunction and actions one should engage in to regain health

Inductive

gather large amounts of data and then make generalizations

BARD1

gene mutation found in families that look like HBOC but dont have BRCA1/2 mutations, women with mutation have increased risk for breast cancer

BRIP1

gene with increased ovarian cancer risk, uncertain risk increase for breast ca AR disease: Fanconi Anemia

Distancing

go on as if nothing happened

Family Therapy

goal is to help the family get back on its normal developmental path. Understand how families interact and communicate

Distancing

going on as if nothing happened

Association

group of anomalies that occur more frequently together than would be expected by chance alone but do not have a predictable patter of recognition or known unified underlying etiology

focused questions

guides response toward specific circumstances

Down syndrome risks

heart defects, duodenal atresia, increased risk for leukemia and Alzheimer

Trisomy 18 clinical presentation - internal organs

heart defects, kidney defects, diaphragmatic hernia, microcephaly, cleft palate

Guilt

holding themself responsible for what they perceive as a negative outcome.

Escape-avoidance

hope for a miracle

Escape-avoidance

hoping for a miracle

3 ways to better instruct adults

i. treat them as a partner in the learning process ii. place value on previous learning and life experiences iii. promote personal direction and control of learning

Plan

identify and following an action plan

Positive reappraisal

identifying existing or potential positive outcomes

Social Learning Theory

incorporates concepts and processes from cognitive, behavior, and emotion ii. behavior and environment are "reciprocal" systems: individuals exist within models of behavior change environment in which personal factors, environmental influences, and behavior continually interact

Directive counseling goal

influence in a specific way

non directive counseling goal

influencing the thoughts and processes that go into the decision

Deferral

information is accepted as correct but its implications are not. prevent the emotional impact of information.

Benign countertransference

intense need to be liked by clients or to a fear of strong client affect, especially anger. To prevent being disliked or to avoid strong affect you create an atmosphere that is the same across all clients and situations, one that is characterized by shallow explorations of emotions

Adult learners are motivated by?

internal factors (self-esteem, recognition, better quality of life)

trisomy 18 - in utero

intrauterine grown retardation

open-ended questions

invites broad response

Self-referent responses

involve revelation by the supervisor of autobiographic information or personal reactions; helpful for normalizing student experiences

Nonmaleficence

involves restrictions on behavior as opposed to actions that promote behavior, do no harm

Rephrasing

involves stating in your own words what the client has just told you. Valuable for demonstrating that you are listening and that you have understood what he/she intended to convey

Fabry disease

is an inherited deficiency of alpha-glactosidase A that causes accumulation of the globoside ceramide trihexoside in tissues. The earliest manifestations are angiokeratomas, hypohidrosis and acroparesthesia .Without enzyme replacement, patients typically develop progressive renal failure.

Random info about risk communication

it's the process of risk communication and not the risk figures that are most meaningful to decision making. Patients perception of risk may be influenced by preconceived risk even if it's incorrect. Beliefs. Feelings. Reactions are important. Be mindful of your affect when giving risk info. understand context of risk you are communicating. Avoid stigma words (defect, abnormal) Recognize patient understanding and thoughts about risk. use numbers not percentages if possible. risk does not equal guarantee

Self-controlling

keep feelings to oneself

Self-controlling

keeping feeling to oneself

Early signs of anger

lack of eye contact, tension in neck and face, folded arms, clenched hands, distance, lack of warmth, short answers, refusal to answer or speak, sarcasm, irritate answers, physical positioning

Galactosemia treatment

lactose or galactose free formula (no milk or cheese) dietary restrictions lifelong

Thanatophoric dysplasia

lethal short-limb dwarfism characterized by a notable reduction in the length of the long bones, pear-shaped chest, soft tissue redundancy, and frequently clover-leaf skull deformity and ventriculomegaly.

risks for baby from maternal exposure to cigarettes

low birth weigh, premature labor, risk for miscarriages

Intuitive decision-making

makes decision on basis of feelings that have not been verbalized

risks for amniocentesis accuracy

maternal cell contamination

Ethnicity

membership within a social grouping of persons based on shared kinship, history, language, and or religion.

Shared language

mirroring the client's language or communication style to enhance client comfort and understanding. May include word usage, speaking tempo, and use of colloquial terms

Leber's Hereditary Optic Neuropathy (LHON)

mitochondrial DNA disorder resulting from point mutations in the gene for cytochrome reductase (allows for transfer of electrons from cytochromes b and c1 to cytochrome c) -patients are typically males in their 20s and 30s who develop loss of central vision

populations NOT at increased risk for hemoglobinopathies

most Northern Europeans Eskimos (Inuit) Japanese Koreans Native Americans (including indigenous peoples of Central America)

impact on baby from maternal CMV infection

most common adverse outcome = hearing loss Other effects: IUGR, cerebral calcifications, ocular anomalies, hepatosplenomegaly - hydrocephalus and periventricular calcifications (on CT scan in infected patient)

impact on baby from maternal use of warfarin

nasal hypoplasia, stippled epiphyses, limb hypoplasia

Depression stage 4

natural part of grief. important to distinguish from clinical depression. ask questions.

Confused reasoners

not less intelligent but have not learned how to process info can not differentiate between trivial and important

Hostile countertransference

occurs when dislike something about client and in an attempt to be as unlike client as possible try to distance yourself in overt and covert ways. Go even further than with rejecting transference making harsh statements. Attitude is that client deserves what they are getting

Availability heuristic

overestimates the likelihood of the most dramatic outcome and underestimates common outcome. OR outcomes that are more easily retrieved or vividly imagined are more likely to be chosen. Ex: patient wants testing for PWS because a neighbor has it but declines flu vaccine for their child

Dismissal

patient denies or attacks the professional competency of person providing information

Indicators of complicated grief

person cannot speak of deceased without intense fresh grief. Relatively minor even triggers intense reaction. Themes of loss in other conversation. unwilling to move material possessions. Developing symptoms like those that the deceased experienced before death. Radical changes to lifestyle. False euphoria or history of clinical depression. compulsion to imitate dead. self destructive impulses. unaccountable sadness. phobia about illness or death. (consider cultural norms before making assumptions)

Compliant

person goes along with plans of someone else rather than making his or her own decisions "if it's ok with you it's ok with me"

Fanconi anemia

physical abnormalities (ss, skin pigmentation, skeletal malformation ) , bone marrow failure, increased risk of malignancy (AML, solid tumors of head and neck) -Biallelic pathogenic variants in 18 genes (AR) -heterozygous pathogenic variant in RAD51 (AD) -hemizygous pathogenic variant in FANCB (XLD)

what are risks to CVS accuracy

placetal mosaicism, maternal cell contamination

impact on baby from maternal use of SSRIs

possible 2-fold increase in CHDs, neonatal adaptation syndrome

Teacher role

primary action is instruction; focus is development of a student as a GC; teacher is a resource person who shares info., skills, and strategies

Evaluator role

primary interaction is critiquing and giving feedback and the focus is accountability; includes formal and informal assessments, goal setting, and giving and receiving feedback; aspects include the work of the student, the GC services provided, and the supervision relationship itself

Counselor role

primary interaction is one of exploration with the goal of promoting self-awareness and growth; supervisor assists student in recognizing developmental tasks and becoming aware of personal issues that may impact her work with clients

Nondirectiveness

procedures aimed at promoting the autonomy and self-directedness of the client (Kessler). An ethical principle, not theory.

Rett Syndrome

progressive neurological developmental disorder featuring constant hand-wringing, intellectual disability, and impaired motor skills

impact on baby from maternal TORCH infection

rashes, seizures, miscarriage risk, risk for birth defects

2 common strategies for down regulating emotion (gross theory)

reappraisal- changing the way a situation is construed so as to decrease its emotional impact Suppression- inhibiting the outward signs of inner feelings

Focusing issues in supervision

reasons a student might fail to present information about a case in a focused manner

Galactosemia

recessive genetic disorder; characterized by body's inability to tolerate galactose

B-ALL

recurrent cytogenetic abnormalities associated with this type of ca

Proband

refers to the affected family member that brings the family to medical attention. Should be designated as "P" on pedigree

Overprotective countertransferance

regard some or most clients as childlike and in need of great care and protection so you cushion info that you give

Field Defect

related malformations in a particular region, sometimes used interchangeably with sequence

Representativeness heuristic

rely on stereotypes. "like follows like". Ex: patient believes they will develop HD because he resembles his father

impact on baby from maternal use of ACE inhibitors

renal dysplasia leading to oligohydramnios, Potter's sequence, pulmonary hypoplasia, IUGR

reflecting

repeat the last phrase of a client's statement as a question

Reflecting

repeating the last phrase of a client's statement in the form of a question to encourage further exploration of the topic

rephrasing

restate your understanding of what the client has said

beta-null mutations

result in little to no B-globin production (splicing, nonsense)

Deductive

rigid framework, disregard info that does not fit into frame

Ambiguous loss

seperation loss. loss of a person who is still present (disease, trauma, etc). Type 1- physical absence and psychological presence. Type 2- physical presence and psychological absence.

soft markers of down syndrome on second trimester u/s

short femur/humerus, echogenic cardiac focus, echogenic bowel, pyelectasis

screening: Hispanic

sickle cell, HbC, and Beta thal Caribbean ancestry have higher risk for hemoglobinopathies (1/9 for sickle cell trait, 1/30 for HbC)

screening: African american

sickle cell: 1/12 beta thalassemia: 1/10 Hb C: incidence of 3% G6PD (x-linked): incidence of 10-15% CF: 1/62 Hb S/Beta thal: variable, typically milder course than HbSS Hb SC: can be as severe as Hb SS

Rejecting countertransference

similar to overprotective, may regard some or most clients as dependent and needy, but react punitively, becoming aloof or cold and behaving in ways that create distance

advance paternal age - increased risk

single gene disorders (ex. achondroplasia)

Race

social grouping based on physical characteristics such as skin color, facial structure, hair texture, etc Collapses multiple ethnic groups into one

Racism

social-structural inclusion or exclusion based on race. Does not have to be conscious or intentional

screening: east and southeast asian

southern china and SE asian: B-thal and Hb E (thailand, Laos, Cambodia) SE asian, south CHina, Taiwan: alpha thal (aa/--) Hb CS(constant spring)/A-thal SEA= Hb H G6PD: 2-16% incidence in Taiwan and south China Hb E/beta-thal: similar to Beta-thal major Hb EE: benign CF: 1/90

Agonizing

spending time & effort gathering info and analyzing alternatives but gets lost in data and never gets to the decision point

Leading responses

statements in which the supervisor initiates the direction of the conversation

Culture

sum of beliefs, behaviors, attitudes, values, and expectations help by small or large social groups. May provide template for person to construct own thoughts and beliefs.

Consultant role

supervisor acts as a facilitator who works with the consultee (student) to determine effective planning and action; examples include brainstorming possible strategies and interventions, generating options, and discussing client needs

Confirmation bias (heuristic)

tendency to seek or interpret information that confirms preconceived idea Ex: patient had 2 friends who had babies over 40 and since those babies are fine hers will be too

empathy

the ability to accurately understand the client's experience as if it were your own and to communicate this understanding to the client

nuchal translucency

the amount of fluid behind the neck of the fetus; fetuses at risk for down syndrome tend to have a higher amount of fluid Measured at weeks 11-13.6 Normal Range is dependent on CRL 95%ile at 12-13 wks = 2.8mm cutoffs range from 2.5 to 3.0 mm

Denial

the inability to acknowledge to oneself certain information or news. Common response to shock or fear.

Consultand

the individual seeking genetic evaluation, counseling, or testing. Should be designated on pedigree with an arrow

2006 NSGC Genetic Counseling Definition

the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. It intergrates: -interpretation of family and medical histories to assess the chance of disease or recurrence -education about inheritance, testing, managment, prevention, resources, and research -counseling to promote informed choices and adaption to the risk or condition

Beneficience

the promotion of personal well-being in others

Ethnic or racial identity

the significance or qualitative meaning a person attaches to their ethnic or racial group membership

Acculturation

those in stigmatized culture groups adopt behavior or dominant group (relates to those with ID in a GC session- may downplay or try to separate themselves from the stigma or MR/ID). Use the language the patient is using to describe themself

Major anomalies

those that create significant medical problems for the patient or require surgical or medical management

Close-ended questions

those that have yes or no answers or ask for only a specific piece of information

impact on baby from maternal radiation exposure

threshold of >5 rads: microcephaly ID seizures IUGR minor eye anomalies

GINA

title I - health insurance -can't reject coverage or raise premiums based on genetic info -no protection for symptoms or diagnosis of genetic disorder -prohibits requiring genetic info for ass't/enrol't/etc -takes effect between may 22/09 and may 21/10 as plans roll over title II - employment -takes effect nov 21 2009 -prohibits employer, employment agency, labor organization from discriminating against an employee based on genetic info "genetic information" -own genetic tests (including as part of a research study) -family members' genetic tests -genetic tests of embryo or fetus -family history of disease -any request for or receipt of genetic services or participation in research that includes genetic services by and individual or family member -genetic tests = analysis of DNA, RNA, chromosomes, proteins, metabolites.

Reflective practice

transformatively learning from experience. Reflection is a big part of professional growth and development. Three parts: experience (recollection), critical examination of experience, and change (beliefs or actions).

most common aneuploidy in miscarriages

trisomy 16

Confronting

trying to change the opinion of the person in charge

Pheochromocytoma

tumor of the adrenal medulla tissue characterized by increased formation of catecholamines

How to address anger

underlying feelings should be addressed before the anger itself. 1. stay calm and set the tone 2. defuse situation by allowing person to vent 3. use empathy 4. listen 5. use silence 6. focus on issue (anger includes exaggeration) 7. apologize and correct if necessary (others on pg 136) Other theories pg 141 understand theoretical underpinning. acknowledge their right to be angry, recognize influence that provoke anger, deal with countertransference, don't personalize

Techniques to enhance communication in GC session (family session)

use GC expertise. Reframe the message. GC as conduit. Reverse role playing.

Redirection

used by the GC to manage the rate of information exchange, to direct the introduction and flow of topics, or to refocus the discussion when the client has gone off on a tangent

Non-expressive

very articulate in highly intellectual way, feel emotions, but deny that have importance

Becker muscular dystrophy

very similar to, but less severe than, Duchenne muscular dystrophy

Stages of Change Model (5 stages)

views behavior change as a circular process with individuals at varying levels of readiness to change toward healthy behaviors 1. precontemplation stage: people have no interest in change 2. contemplation stage: serious thought is given to changing a behavior 3. decision stage: the plan to change is made 4. action stage: the first 6 months after a change in behavior has been implemented 5. maintenance stage: the period from 6 months after the change until the unwanted behavior has been completely terminated

Disenfranchised grief

when a person grieves but others may not acknowledge that personal right to grieve

Countertransference

when the counselor responds to the patient from the counselor's own past experience rather than the reality of the patient conscious and unconscious emotions and processes that the provider brings to her or her work that are elicited by the patient or and aspect of the GC session emotions, fantasies, behaviors, perceptions, psych defenses can be maladaptive or adaptive

Paternalism

when the professional's perception of her duty of beneficence toward the patient and her definition of the limits of the patient's autonomy do not agree with the view of the patient