Genetics: practice question

A Pediatrics 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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Pediatrics · Genetics

Sample item

Which congenital heart defect is most common in Down syndrome?

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

The answer and the reasoning

A. Atrioventricular septal defect

About 40 to 50% of children with Down syndrome have congenital heart disease, most commonly an atrioventricular septal defect (endocardial cushion defect), followed by ventricular septal defect. Echocardiography is recommended in all newborns with Down syndrome.

Option by option

  • A. Atrioventricular septal defect (correct)

    Correct. The endocardial cushion defect is the classic lesion.

  • B. Tetralogy of Fallot

    Tetralogy of Fallot occurs in Down syndrome but less commonly.

  • C. Transposition of the great arteries

    Transposition is not particularly associated with Down syndrome.

  • D. Patent ductus arteriosus

    PDA is common in premature infants.

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 Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, Atrioventricular septal defect. About 40 to 50% of children with Down syndrome have congenital heart disease, most commonly an atrioventricular septal defect (endocardial cushion defect), followed by ventricular septal defect.

Why is "Tetralogy of Fallot" not the answer?

Tetralogy of Fallot occurs in Down syndrome but less commonly.

Why is "Transposition of the great arteries" not the answer?

Transposition is not particularly associated with Down syndrome.

Why is "Patent ductus arteriosus" not the answer?

PDA is common in premature infants.

What concept does this question test?

It tests Genetics in Pediatrics. Echocardiography is recommended in all newborns with Down syndrome.

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 Genetics?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.