Obstetric imaging: cystic hygroma: practice question

A Radiology 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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Radiology · Obstetric imaging: cystic hygroma

Sample item

A first trimester scan shows a large, septated cystic mass at the back of the fetal neck with marked nuchal skin thickening. Which chromosomal disorder is most strongly associated?

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

The answer and the reasoning

A. Turner syndrome (45,X)

Septated cystic hygromas arise from failure of lymphatic drainage into the jugular veins and are strongly linked with Turner syndrome and hydrops, and also Down syndrome. Karyotyping is recommended.

Option by option

  • A. Turner syndrome (45,X) (correct)

    Correct. Septated cystic hygroma is strongly linked with 45,X.

  • B. Cri-du-chat syndrome

    Cri-du-chat does not typically show this finding.

  • C. Klinefelter syndrome

    Klinefelter syndrome is not linked with fetal hygroma.

  • D. Edwards syndrome only

    Edwards syndrome has other features and is less typical for 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 Radiology question

What is the answer to this Radiology question?

The best answer is A, Turner syndrome (45,X). Septated cystic hygromas arise from failure of lymphatic drainage into the jugular veins and are strongly linked with Turner syndrome and hydrops, and also Down syndrome.

Why is "Cri-du-chat syndrome" not the answer?

Cri-du-chat does not typically show this finding.

Why is "Klinefelter syndrome" not the answer?

Klinefelter syndrome is not linked with fetal hygroma.

Why is "Edwards syndrome only" not the answer?

Edwards syndrome has other features and is less typical for hygroma.

What concept does this question test?

It tests Obstetric imaging: cystic hygroma in Radiology. Karyotyping is recommended.

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 Obstetric imaging: cystic hygroma?

Learn signs with the image, and the disease they point to. Then use the flashcards and the other Radiology 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.