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Biochemistry · Clinical biochemistry: antenatal screening
Sample itemA 36-year-old pregnant woman has a second trimester quadruple test. Which pattern raises the risk of Down syndrome?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Low AFP, low unconjugated oestriol, high hCG and high inhibin A
In Down syndrome the maternal serum AFP and unconjugated oestriol are low while hCG and inhibin A are raised. Edwards syndrome shows low AFP, oestriol and hCG, with inhibin A normal or low. A high AFP suggests a neural tube defect or abdominal wall defect, or wrong dates. A screening test only modifies risk, and a high-risk result is followed by non-invasive prenatal testing or amniocentesis.
Option by option
A. High AFP, normal hCG and normal inhibin A
A high AFP suggests neural tube defect, which is a different risk.
B. Low AFP, low unconjugated oestriol, low hCG and low inhibin A
Low AFP, oestriol and hCG with inhibin A not raised suggest trisomy 18, not Down syndrome.
C. Low AFP, low unconjugated oestriol, high hCG and high inhibin A (correct)
Correct. This is the classic Down syndrome pattern.
D. Normal AFP with high unconjugated oestriol and low hCG
This mixture is not a recognised pattern for Down syndrome.
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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