Normal pregnancy and antenatal care: cystic hygroma: practice question

A OBG 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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OBG · Normal pregnancy and antenatal care: cystic hygroma

Sample item

A first-trimester scan shows a large septated cystic swelling over the fetal neck with generalised skin oedema. Which chromosomal abnormality is most strongly associated with this finding?

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

The answer and the reasoning

C. Monosomy X (Turner syndrome)

A septated cystic hygroma arises from failure of lymphatic drainage into the jugular veins. It is classically associated with Turner syndrome (45,X) and often progresses to hydrops. Fetal karyotyping is advised.

Option by option

  • A. Trisomy 21

    Trisomy 21 more typically shows a thickened but non-septated nuchal translucency.

  • B. Trisomy 18

    Trisomy 18 is characterised by growth restriction and clenched hands, with hygroma less typical.

  • C. Monosomy X (Turner syndrome) (correct)

    Correct. Large septated nuchal hygroma with hydrops is the classic Turner syndrome sonographic pattern.

  • D. Klinefelter syndrome (47,XXY)

    Klinefelter syndrome is not associated with nuchal cystic hygroma.

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 OBG question

What is the answer to this OBG question?

The best answer is C, Monosomy X (Turner syndrome). A septated cystic hygroma arises from failure of lymphatic drainage into the jugular veins.

Why is "Trisomy 21" not the answer?

Trisomy 21 more typically shows a thickened but non-septated nuchal translucency.

Why is "Trisomy 18" not the answer?

Trisomy 18 is characterised by growth restriction and clenched hands, with hygroma less typical.

Why is "Klinefelter syndrome (47,XXY)" not the answer?

Klinefelter syndrome is not associated with nuchal cystic hygroma.

What concept does this question test?

It tests Normal pregnancy and antenatal care: cystic hygroma in OBG. It is classically associated with Turner syndrome (45,X) and often progresses to hydrops. Fetal karyotyping is advised.

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 Normal pregnancy and antenatal care: cystic hygroma?

Learn management algorithms as steps: PPH, eclampsia, ectopic pregnancy. Then use the flashcards and the other OBG 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.