aneuploidy: abnormal number of
chromosomes, increases with maternal age
triploidy: extra set of chromosomes (69)
trisomy: extra pair of chromosomes (47)
Down's risk 1/910 at 30yrs, 1/110 at 40, 1/240 at 37.
amnio risk ~ 1/200
Alpha fetoprotein
glycoprotein made initially by yolk sac, then liver.
peaks at 28-32 wks
fetal tissue not covered by skin leaks AFPinto blood
that can exceed median by 2.5X [multiple of median, MOM] (singleton),
or >4.5MOM for multiples
elevated >98% in open spina bifida and
anencephaly. Abdominal wall defects (gastroschisis [90%], omphalocele
[40%], Placental anomaly: chorangioma, hematoma, insufficiency;
Chromosome anomalies: Trisomy 13, 18, Turner's, Triploidy
low levels (0.63< MOM<1) is asssociated with
increased Down's risk
sensitivity for Downs is only 21%
Triple screen detects 50% of
Down's
alpha fetoprotein plus:
human chorionic gonadotropin: produced by placental
synctiotrophoblasts and is higher in Down's suggesting placental
hypersecretory immature placenta
unconjugated estriol: DHEAS from fetal adrenal gland
converted in fetal liver and unconjucated in placenta by sulfatase is
found to be 25-30% lower in Down's
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