OB Gyn Case Files Cases 7-12 Flashcards
What’s the MC causes of abnormal serum screening tests? What should you do?
wrong dates or multiple gestations
Do an ultrasound! If still abnormal and 16 wks, repeat soon, if 20 wks - genetic counseling and referral for amniocentesis
What’s the msAFP cutoff?
2.0 or 2.5 MOM (multiples of the median)
At 16 wks gestation, where would the fundus be located? 20 weeks?
16 wks: midway btwn symphysis pubis and umbilicus
20 wks: level of umbilicus
What’s alfa-fetoprotein and what’s it analogous to?
gylcoprotein made first by the fetal yolk sac then later by the fetal liver and GI tract. It deffuses thru the chorioamniotic membranes
analogous to adult albumin
What’s frist trimester screening? When can it be done?
Biochemical markers: PAPP-A & B-hCG +/- transvaginal US to measure posterior neck (nuchal translucency) to give risk of down syndrome & trisomy 18
10-13 wks gestation
What’s neural tube defects and what can it lead i?
failure of embryonic neural fold closure leads to absent cranium & cerebral hemispheres (anencephaly) or nonclosure of vertebral arches (spina bifida)
What tests are done for second trimester screening? When do you do it?
msAFP, hCG, inhibin-A, unconjugated estriol
Btwn 15-21 weeks gestation
What are some causes of elevated msAFP?
neural tube defects, underestimation of gestational age, multiple gestations, abdominal wall defects, cystic hygroma, fetal skin defects, sacrococcygeal teratoma, decreased maternal weight, oligohydramnios
What are the screening serums for a pt with trisomy 21?
decreased AFP, unconjugated estriol (uE3), PAPP-A
increased hcG and inhibin A
Would also have thickened nuchal translucency
What are the screening serums for a pt with trisomy 18?
Decreased AFP, unconjugated estriol (uE3), hCG, PAPP-A
Inhibin: N/A
What are the screening serums for a pt with trisomy 13?
Decreased PAPP-A and B-hCG
What are some causes of low msAFP?
overestimation of gestational age, chromosomal trisomies, molar pregnancy, fetal death, increased maternal weight
What are some US findings for a pt with down syndrome?
thickened nuchal fold, shortened femur length, or echogenic bowel
What can an amniocentesis be used for in elevated msAFP?
Test amniotic fluid for AFP, can also obtain fetal karyotype to identify fetal aneuploidy
What’s MPSS?
Massively parallel shotgun sequencing which analyzes and amplifies cell free fetal DNA (cffDNA) in matneral blood btwn 10-22 wks gestation to detect excessive fetal chromosomes (trisomy 21,18,13)
Name some teratogens
Androgens, alcohol, phenytoin (dilantin), lithium carbonate, methotrexate, retinoic acid (vit A), ACEi, warfarin, valproic acid, carbazepine
What effects do androgens have on embryo?
teratogen that can cause masculinization of female fetus and labial fusion
what effects does alcohol have on an embryo?
fetal alcohol syndrome, IUGR, microcephaly
What effects does phenytoin (dilantin) have on an embryo?
fetal hydantoin syndrome, IUGR, micocephaly, facial defects
What effects does lithium carbonate have on an embryo?
heart and great vessel defects (epstein anomaly)
What effects does methotrexate have on an embryo?
skeletal defects, limb defects
What effects does retinoic acid (vit A) have on an embryo?
facial defects, neural tube defects
What effects does ACEi have on an embryo?
skull anomalies, limb defects, miscarriage; renal tubule dysgenesis, renal failure in neonate, oligohydramnios
What effects does warfarin have on an embryo?
CNS and skeletal defects
What effects does valproic acid and carbamazepine have on an embryo?
neural tube defects
What’s a teratogen’s effect in the first 2 weeks of gestation?
All of nothing effect - embryo is killed or recovers from the exposure
when could malformation occur from teratogen exposure?
during organogenesis - days 15-60
Pregnancies with elevated msAFP which after eval are unexplained are at an increased risk for what?
stillbirth, growth restriction, preeclampsia and placental abruption