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OBG · Normal pregnancy and antenatal care: trisomy 18 serum screening
Sample itemA 36-year-old woman at 16 weeks has a second-trimester screen showing low alpha-fetoprotein, low unconjugated oestriol, low total hCG and low inhibin A. Which fetal condition does this pattern most strongly suggest?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Trisomy 18
In trisomy 18 all the quadruple-test analytes tend to be low. In trisomy 21, hCG and inhibin A are raised while AFP and oestriol are low. Open neural tube and abdominal wall defects raise maternal serum AFP.
Option by option
A. Open neural tube defect
An open neural tube defect raises maternal serum AFP rather than lowering it.
B. Fetal gastroschisis
Gastroschisis leaks fetal protein into the amniotic fluid and raises maternal AFP.
C. Trisomy 21
Trisomy 21 gives low AFP and oestriol but raised hCG and inhibin A.
D. Trisomy 18 (correct)
Correct. A uniformly low pattern of AFP, oestriol, hCG and inhibin A characterises trisomy 18.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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