39.       Exomphalos

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MCQ Paper 1

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a. occurs in 1 pregnancy in 150. False
b. is usually fatal False
c. is a marker for Down’s syndrome False
d. is a marker of r trisomy 13 True
e. is a marker for trisomy 18. True
f. is associated with renal agenesis. False

Exomphalos is uncommon ~ 1: 3,000 pregnancies.

If it is the only thing wrong with the baby, then it is treatable and > 90% of the babies will survive and do well.

The problem is the link with chromosomal abnormality, usually T13 or T18.

If exomphalos is identified, then amniocentesis should be offered as the risk of T18 is ~ 22% and of T13 ~ 5%.

It is important to appreciate that the counselling of the mother is different in this situation to that where the risk is of T21.

T18 and T13 are lethal, so the mother does not face the prospect of having to care for a handicapped child for life.

When weighed against the risk of losing a normal baby due to amniocenteses, the response may be different.

My experience is that this is so, though I have not seen any research evidence to support this.

Make sure that you can differentiate exomphalos and gastroschisis (MCQ 11, question 8).

As an aide-memoire, gastroschisis is good (in so far as that is carries little risk of trisomy), exomphalos is evil.

This might help you to remember, but neither is to be advocated.

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