Medical genetics: quadruple test: practice question

A Anatomy question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Anatomy · Medical genetics: quadruple test

Sample item

At 16 weeks, maternal serum screening shows low alpha-fetoprotein, low unconjugated oestriol, high hCG and high inhibin A. Which fetal condition does this pattern suggest?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. Down syndrome

The quadruple test pattern for trisomy 21 is low AFP, low unconjugated oestriol, high hCG and high inhibin A. In trisomy 18 all markers are low, and open neural tube and abdominal wall defects raise AFP.

Option by option

  • A. Edwards syndrome

    In Edwards syndrome all markers including hCG are low.

  • B. Down syndrome (correct)

    Correct. This marker pattern is typical of trisomy 21.

  • C. Open neural tube defect

    An open neural tube defect raises AFP.

  • D. Gastroschisis

    Gastroschisis also raises maternal serum AFP.

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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Questions about this Anatomy question

What is the answer to this Anatomy question?

The best answer is B, Down syndrome. The quadruple test pattern for trisomy 21 is low AFP, low unconjugated oestriol, high hCG and high inhibin A.

Why is "Edwards syndrome" not the answer?

In Edwards syndrome all markers including hCG are low.

Why is "Open neural tube defect" not the answer?

An open neural tube defect raises AFP.

Why is "Gastroschisis" not the answer?

Gastroschisis also raises maternal serum AFP.

What concept does this question test?

It tests Medical genetics: quadruple test in Anatomy. In trisomy 18 all markers are low, and open neural tube and abdominal wall defects raise AFP.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Medical genetics: quadruple test?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.