N410 Exam 2
monozygotic
1 egg 1 sperm same placenta, separate amniotic sacs
Fetal Developmental Milestones What week is gender seen on the ultrasound
12 weeks
At how many weeks can the fetus hear?
18 weeks
A client's amniocentesis results were reported as 46, XY. Her health care provider informed her that everything looked fine. Shortly after birth the baby was diagnosed with cerebral palsy. Which response by the nurse will best explain this result? 1. "It is likely that you received the wrong amniocentesis results." 2. "Cerebral palsy is not a genetic disorder." 3. "The genes responsible for cerebral palsy have not been discovered yet." 4. "The lab did not test for cerebral palsy."
2
A male client has green color blindness, an X-linked recessive disorder. His wife has no affected genes. Which statement by the nurse is true regarding the couple's potential for having a child who is color blind? 1. "All male children will be carriers for colorblindness." 2. "All female children will be carriers for colorblindness." 3. "All male children will be color blind." 4. "All female children will be color blind."
2
Expectant parents ask the nurse when the major organs are present. How should the nurse reply? "At 4 weeks." "At 8 weeks." "At 12 weeks." "At 16 weeks."
2
How would the nurse explain the composition of the umbilical cord to expectant parents? 1. "It has one artery and one vein." 2. "It has two arteries and one vein." 3. "It has two arteries and two veins." 4. "It has two veins and one artery."
2
The nurse is counseling a pregnant couple who are both carriers for phenylketonuria (PKU), an autosomal recessive disease. Which comment by the nurse is most appropriate. 1. "Congratulations! You must be relieved that the odds of having a sick child are so small." 2. "There is a 50% chance that your child will be a carrier for PKU." 3. "I wish I could give you good news. Because this is your first pregnancy, your child will definitely have PKU." 4. "There is a 50% chance that your child will have PKU."
2
The nurse is working with a couple who have been trying to conceive. The nurse formulates a diagnosis of Knowledge Deficit related to ovulation and fertility management. What is most important for the nurse to include in the teaching plan? 1. The ovum survives for 96 hours after ovulation, making conception possible during this time. 2. Ovulation usually occurs on day 14, following the onset of the menstrual cycle. 3. Most women can tell they have ovulated because they have thick, scant cervical mucus at this time. 4. The basal body temperature will fall after ovulation has occurred.
2
Applications for PGD Use: Cystic fibrosis carriers used PGD to avoid having a child with the disease One of the embryos had an extra chromosome ___ The couple insisted 2 embryos be implanted at random and the others frozen for future use, rather than destroy the defective embryo
21
__ weeks fetal respiration movement begins but the fetus is still being oxygenated by the umbilical cord
24
Notice that typical cycles for females are 28 days, with ovulation occurring at day 14. The hormones that are important to ovulation and conception are noted in the slide above. Eggs live for __ hours after ovulation Sperm lives about __ days at the longest, most only 1-2 days
24 5
umbilical cord: __ arteries, __ veins - arteries take blood away from the fetal heart, which is ___ blood, and the veins go to the fetal heart with oxygenated blood. The opposite of us
2; 1 deoxygenated
A woman comes to the clinic for pregnancy testing. Her last menstrual period was 6 weeks ago. She states she has experienced no problems and has decided she will not return for prenatal care unless she needs it. How should the nurse respond? 1. "We recommend that all clients come in as frequently as the insurance provider will allow." 2. "You are coming in earlier than normal. Most clients don't realize they are pregnant for at least 20 weeks." 3. "The first three months of pregnancy are the most critical time in fetal development." 4. "Your healthcare provider will want to meet with you at least every other week."
3
What Information should you collect? -information depends on the context and reason for collecting it -collect __ generations of information For each person: -gender -date or birth (or age) -if deceased, age and cause of death -diseases or other medical conditions -age of onset of the disease -ancestry
3
How should the nurse describe the function of amniotic fluid? 1. "It helps reduce excess fetal movement." 2. "It allows exchange of oxygen, nutrients, and waste products." 3. "It promotes adherence of the placenta to the uterus." 4. "It helps maintain a constant fetal body temperature."
4
The genetic counselor informs a couple that they have a 25% probability of having a child with a severe genetic disease. The couple asks the nurse exactly what this means. Which response by the nurse is appropriate? 1. "If you have 4 children, only one will be affected." 2. "Only your firstborn child will be affected." 3. "Your fourth child will have the disease." 4. "Whenever you get pregnant, there is a 1 in 4 chance that the child will have the disease."
4
Unless >35 years old, then __ month timeframe is recommended or if the patient has a known risk factor.
6
Key Points Embryo Developmental Milestones: Implantation to __ weeks after conception Most critical time in development of organ systems and external features Heart begins beating by ___ weeks Unmistakably human appearance by week ___
8 4 8
All body organs are formed by __ weeks after 8 weeks = __
8 fetus
Interventions Preconception counseling (genetics) Lifestyle considerations (prior to conception) o Avoidance of teratogens o Well-balanced diet, exercise o Avoid excessive quantities of vitamins (i.e. especially __ and __) o Take supplements of folic acid o Avoid alcohol and drug ingestion o Smoking cessation o Check with your physician regarding use of prescription medications, over-the-counter medications and herbals [FDA Drug Categories A through D, and X; no FDA regulation of botanical products]
A; D
Key Points! Avoid excessive quantities of vitamins, especially __ and __, they can be harmful to the pregnancy Take supplements of ___ prior to pregnancy Avoid alcohol and drug ingestion, including OTC and herbals Correct nutritional excesses/deficiencies prior to becoming pregnant Teratogens can be natural or chemical
A; D folic acid
trisomy 21
Also known as Down's syndrome, caused by a missing chromosome that got lost during cell division
When is gender determined?
At the moment of fertilization
A client's father has Huntington's disease and the client is now also exhibiting mild symptoms of the disorder. The client and his wife decide to visit a genetic counselor to discuss the risk of having a baby with this disease. What should the counselor tell the couple about this autosomal dominant disorder? a. There is no possibility of transmission from the father because this abnormal gene is carried by the mother. b.There is approximately a 25% chance that the abnormal gene will be passed on to offspring. C. There is a 50% chance that the abnormal gene will be passed on to offspring. D. There is a 100% chance that the affected parent will transmit the normal gene to the offspring.
C
Applications for PGD Use Sex selection has been used by carriers of __________ Only female embryos were implanted to avoid having an affected son Sex selection has also been used for gender balancing in families
Duchenne type muscular dystrophy
A tool used to trace characteristics through multiple generations Helpful for a nurse or provider when looking at specific genetic characteristics
Genograms
What is the function of amniotic fluid?
Helps maintain constant temperature; Cushions the fetus from mechanical trauma; Allows freedom of movement; Facilitates symmetrical growth; Promotes lung development
Female Diagnostics • ____ o Commercial ovulation predictor kits o Cervical mucous assessment o Basal body temperature monitoring • Endocrine Tests (i.e. FSH, LH, progesterone, prolactin, thyroid and androgen levels)
Ovulation Prediction
Diagnostic Testing **Always start with least invasive first** Male • ____ o Evaluates structure and function of sperm and composition of seminal fluid • _______ tests (i.e. testosterone, LH and FSH levels) • ____ -----o Evaluates the structure of prostate gland, seminal vesicles, and ejaculatory ducts
Semen analysis endocrine Ultrasound
Female Diagnostics • ____: o Evaluates structure of pelvic organs; cyclic endometrial changes; ovarian follicles and release of ova at ovulation • ________: o Evaluates patency of uterus and fallopian tubes • Laparoscopy looking for endometriosis • ________ o Evaluates characteristics of cervical mucus and sperm function within that mucus at the time of ovulation (i.e. test is performed 6-12 hours after intercourse)
Ultrasound Hysterosalpingogram Postcoital Test
Ethical and Social Implications of Genetic Counseling ___: information must be presented in a neutral and non-judgemental manner the person/family makes the decisions, not the counselor testing is voluntary
autonomy
Genetic Disorders Single Gene Disorders - - -
autosomal dominant autosomal recessive X-linked
A prenatal client tearfully states that she used drugs before she knew she was pregnant. The nurse should understand which fact about the effects of teratogens in pregnancy? a. Drug use in the first trimester always causes congenital defects. b. Drug use before implantation has a smaller incidence of teratogenic effect. c. It is only important to avoid drug use during the period of organ formation, weeks 3 to 10. d. Selected drug use is not harmful in pregnancy.
b
Ethical and Social Implications of Genetic Counseling _____: the tenets to attempt to do good and to avoid harm What happens if the test proves non-paternity? What if the results will affect employability or insurability?
beneficence and nonmaleficence
Factors contributing to repeated pregnancy loss: • Abnormalities in fetal ___ • Abnormalities of the cervix or uterus (i.e. bicornuate uterus; incompetent cervix) • Endocrine abnormalities • Immunologic factors • Environmental agents
chromosomes
Genetic Disorder Examples - - - - - -
cleft lip and palate neural tube defects pyloric stenosis heart defects dislocated hips club foot
Placenta Fetal and maternal blood ___ exchange. The placental ___ separates the maternal and fetal blood. Placenta: Organ of respiration, nutrition, excretion, endocrine, and immunity Respiratory: O2 transfers from ____ blood to fetal and CO2 moves out Excretion: Functions like a kidney to balance bicarb and hydrogen ions Nutrient: ___ crosses the placenta and micronutrients Drugs and viruses can also cross the placenta. ___ does not cross the placenta. Endocrine: Placenta excretes hormones to sustain pregnancy Immunity: Ig___ antibodies cross from maternal to fetal circulation
do not membrane maternal Glucose Insulin G
hydramnios
excessive amniotic fluid
dizygotic
fraternal twins
Therapies to facilitate pregnancy Assisted Reproductive Technology (ART) uses medical, surgical, laboratory, or micromanipulation techniques to handle ovum and sperm • In Vitro Fertilization (IVF) • ___ Intrafallopian Transfer (GIFT) • ___ Intrafallopian Transfer (ZIFT) • Intracytoplasmic Sperm Injection (ICSI)
gamete zygote
Teratogens can be a natural substance such as ____. If the mother has poor glycemic control, the increased levels of glucose can be a teratogen to the pregnancy causing birth defects or loss of the pregnancy = miscarriage. Chemical can be manufactured drugs, etc.
glucose
• Suggestions for improving fertility [males]: o STI prevention o Avoid exposure to toxins, such as lead pesticides or other chemicals o Avoid ___ temperatures (i.e. hot tubs, saunas, sitting for prolonged periods) o Decrease alcohol intake; discontinue use of illicit drugs o Talk with physician regarding therapeutic treatments, such as antihypertensive medications, antineoplastic drugs or radiation for cancer o Condom use for immune reactions to sperm
high
monozygotic
identical twins
woman's egg cells are combined with a man's sperm cells outside the uterus. The fertilized egg is then implanted in the woman's uterus and, if successful, begins the pregnancy cycle
in vitro fertilization
defined as 1 year of unprotected intercourse without conceiving
infertility
defined as a lack of conception despite unprotected sex for at least 12 months
infertility
Injecting the sperm into the uterine cavity. The sperm and egg still fertilize naturally.
intrauterine insemination
Ethical and Social Implications of Genetic Counseling _________: refers to fairness or equal access to genetic services. What if the person lives in a rural area and does not have access to testing? What if the person is uninsured and unable to pay for testing?
justice
_____________ disorders have a genetic component, but are caused by a variety of genes and environmental factors may also play a part
polygenic multifocal
The future of genetics ____: Now that all the chromosomes have been mapped, PGD has surfaced as a possible solution to the genetic transmission of disease and disability. 3,000 to 4,000 diseases are now linked to genetic mutation
preimplantation of genetic diagnosis (PGD)
women who have never conceived
primary infertility
aims to prevent disease or injury before it ever occurs
primary interventions
Patterns in a Family health history that indicate a higher risk are: -more than one blood __ with a particular disease -diagnosis at __ age than expected -diseases that are rare in a certain ____ (male with breast cancer) -recurring combinations of diseases (ex. diabetes and heart disease)
relative earlier gender
previous pregnancy, but now no conception after 12 months; inability to maintain pregnancy
secondary infertility
aims to reduce the impact of a disease or injury that has already occurred
secondary interventions
___ gene disorders are associated with a fixed rate of occurrence
single
evaluates fertilizing ability of sperm
sperm penetration assay
identifies pathology and obstructions
testicular biopsy
oligohydramnios
too little amniotic fluid
• Suggestions for improving fertility [females]: o STI prevention o Use only ____ soluble lubricants o Decrease stress level o Healthy BMI o Stabilize chronic health conditions (i.e. diabetes) o Monitor basal body temperature o Monitor cervical mucus changes
water
Factors contributing to female infertility
• Disorders of ovulation (i.e. altered secretion of hormones and/or altered ovarian response) • Age (i.e. ovulation and menstruation are more erratic; pool of ova diminishes) • Obesity • Anorexia • PCOS • Blocked fallopian tubes • Cervix (i.e. hostile mucous; obstruction)
Factors contributing to male infertility
• Sperm (impaired number, structure or function) • Abnormal erections • Ejaculation problems • Seminal fluid (abnormal amount, consistency or chemical composition) • Antibodies to partner
