TA Review of Pregnancy PDF

TA REVIEW 1. What is necessary for the expression of recessive and dominant gene mutations and what are some examples of each? a. Recessive (need 2 copies, one from each parent)= Sickle cell anemia, cystic fibrosis, tay-sachs, and PKU. b. Dominant (only need 1 copy...

TA REVIEW 1. What is necessary for the expression of recessive and dominant gene mutations and what are some examples of each? a. Recessive (need 2 copies, one from each parent)= Sickle cell anemia, cystic fibrosis, tay-sachs, and PKU. b. Dominant (only need 1 copy)= huntington's disease 2. What is a sex-linked gene mutation? a. Hemophilia = x linked (is on the x chromosome so females are carriers if they have only 1 X carrier, males will always get it if they have that X carrier, and females need two copies one from each parent of the disease to have it b. Duchenne’s muscular dystrophy 3. What hormones are implicated in the physiologic changes of pregnancy? a. Estrogen, progesterone, and prolactin 4. How do the physiologic changes of pregnancy manifest themselves? a. Vascular resistance decreases, lowered blood pressure, edema caused by the veins becoming worse at bringing blood back up to the trunk, breast changes, respiratory capacity increases, respiratory volume decreases, more likely to get UTIs, nausea/vomiting (normally 1st trimester), gassiness, decreased muscle tone and motility in the smooth muscles 5. What are the signs of pregnancy? (presumptive, probably, positive) a. Presumptive i. missed menstrual cycle (amenorrhea) ii. breast changes - enlargement, tenderness, tingling, increased vascularity iii. nausea/vomiting (common from week 2-12) iv. urinary frequency (due to pressure of enlarging uterus on the bladder) v. quickening (first feeling fetal movement, usually around 18-20 weeks in primigravidas and 14-16 weeks in multigravidas) vi. Fatigue (common during first trimester) b. Probable i. uterine growth and abdominal growth ii. melasma (brownish skin pigmentation over the forehead, temples, cheek, or upper lip) iii. Linea nigra (dark line on skin that runs from the umbilicus to the pubis) iv. Darkening of the nipples and areola v. Ballottement (a light tap on the cervix that causes the fetus to rise in the amniotic fluid and then rebound to its original position, occurs around 16- 18 weeks) vi. Positive pregnancy test (detection of hCG in maternal urine or blood) c. Positive i. listening to fetal heart tones on doppler (usually around 10-12 weeks) ii. observing and palpating fetal movement (after 20 weeks) iii. Sonogram visualization of the fetus (cardiac movement can be noted at 4- 8 weeks 6. How is pregnancy dated? a. Use the first day of the person's last menstrual period (take that date and subtract 3 months, add 7 days, then add a year) b. 1st trimester= first day of last menstrual period -14 completed weeks c. 2nd trimester= 15 weeks - 28 completed weeks d. 3rd trimester= 29 weeks - 40 completed weeks e. 37 weeks is the start of being full term, 42 weeks is past term i. Below 20 weeks = nonviable ii. 20 weeks to 36 +6 = preterm iii. 37 weeks - 38 +6 = early term iv. 39 weeks - 40 + 6= full term v. 41 weeks - 41 +6 = late term vi. 42 weeks and above = past term 7. What are the different tests performed throughout pregnancy by trimester? Screening tests: identifying risks for abnormalities in fetuses (looking for potential issue). Diagnostic Tests: identifying/diagnosing abnormalities in a fetus a. First trimester: i. Screenings = nuchal translucency ultrasound, ultrasound ii. Diagnostic = chorionic villus sampling (earliest is 10 wks) iii. Labs = blood type, antibody screening for RH, CBC, syphilis/HIV/hepatitis/PPD screenings, urinalysis, gonorrhea/chlamydia testing, Cell free DNA, multiple marker/Noninvasive Prenatal Testing/ (tested by taking samples of moms blood) iv. b. Second trimester: i. Screenings: maternal serum alpha fetoprotein, anatomy US scan at 20 weeks, ii. Diagnostics = amniocentesis iii. Labs = glucose challenge test, repeat CBC, repeat RPR, and give Rhogam at 28 weeks if RH negative c. Third trimester: i. Screenings: ultrasound, Amniotic Fluid Index, Biophysical profile, Contraction stress test, fetal movement, Nonstress test, Vibroacoustic stimulation ii. Diagnostics: MRI iii. Labs = GBS screening (Group B strep), repeat CBC, repeat gonorrhea/chlamydia HIV testing if indicated 8. What are indicators of fetal well-being? a. Movement: regular movement of fetus with either 4 movements in 1 hour or 10 movements in 2 hours b. Growth: measuring the growth of fundus (uterus 20x the size of nonpregnant uterus) c. Heart tones: listening to heart tones with the doppler 9. What are priorities for patient education depending on the trimester? (ie: early discomforts of pregnancy vs preparing for labor) a. Early discomforts, educate on: i. Nausea, vomiting gaining weight, swollen feet, frequent urination, reassuring these are normal, prenatal supplementation, avoiding anything teratogenic b. Close to labor, educate on: i. Birth plan, what to expect in labor, what to expect in postpartum, if high risk educate why birth should be in the hospital 10. What do we do at every prenatal? a. Vitals, belly measurements, listening to fetal heart tones, urinalysis 11. What is the difference between a diagnostic vs a screening test in terms of genetic abnormalities in pregnancy a. Screening tests: identifying risks for abnormalities in fetuses (looking for potential issue) i. Amniotic fluid index 1. Measuring how much amniotic fluid is present in utero ii. Biophysical profile 1. Ultrasound that measures amniotic fluid around the baby. Tracks movement, breathing, HR, muscle tone. iii. Contraction stress test 1. A test that induces contractions to see how well the baby can tolerate that iv. Daily fetal movement count 1. Subjective screening test where the pregnant mom counts the movements themselves v. Multiple marker screening 1. Serum blood test looking at hormone levels to evaluate the risk of chromosomal abnormalities vi. Nonstress test 1. Looks at the fetal heart rate Ultrasound vii. Nuchal translucency 1. Measures amount of fluid behind baby’s neck to tell if there is an increased risk for certain chromosomal abnormalities viii. Umbilical artery doppler flow 1. A doppler is places over the abdomen and looks to measure the amount of flow going through the umbilical cord (gives us an idea of how well the placenta is perfusing) ix. Vibroacoustic stimulation 1. Vibration tool placed on the abdomen that stimulates the baby to wake up a little bit. Is done when there doesn’t seem to be very many fetal heart rate accelerations  b. Diagnostic Tests: identifying/diagnosing abnormalities in a fetus i. Amniocentesis 1. Amniotic fluid is collected through the abdomen at 15-20 weeks to analyze any potential chromosomal abnormalities ii. Chorionic villi sampling 1. A sample of the chorion is collected (done early in the pregnancy) iii. MRI 1. May be done to confirm any potential structural abnormalities iv. Percutaneous umbilical blood sampling 1. Blood is collected from the umbilical cord in utero (very high risk procedure!) to identify any potential conditions in the fetal serum v. Ultrasound 1. Used to diagnose/confirm the pregnancy GTPAL Practice 1. Pregnant person with 3 living children born at 25 weeks, 38 weeks, and 39 weeks a. G4, T2, P1, A0, L3 2. Non pregnant person, 1 child born at 35 weeks, twins born at 38 weeks, and 1 miscarriage at 12 weeks a. G3, T1, P1, A1, L3 3. Pregnant person, twin pregnancy in 2015 at 35 weeks, term in 2018 at 39 weeks a. G3, T1, P1, A0, L3