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Pathology · Neoplasia: complete hydatidiform mole
Sample itemA 24-year-old woman at 11 weeks of amenorrhoea has a uterus of 16 weeks size, serum beta-hCG of 250,000 IU/L and a snowstorm pattern on ultrasound with no fetal parts. Histology shows diffuse hydropic villi with circumferential trophoblastic hyperplasia. What is the expected genetic constitution?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. 46,XX with all chromosomes of paternal origin
A complete mole arises when an empty ovum is fertilised by a haploid sperm that duplicates, or less often by two sperm, giving a diploid paternal-only genome (usually 46,XX). There is no fetus, and villi are diffusely hydropic with a risk of persistent disease or choriocarcinoma. A partial mole is triploid, usually 69,XXY, and shows focal hydropic change with fetal tissue.
Option by option
A. 69,XXY, triploid with two paternal sets
Triploidy with a fetus or fetal parts defines a partial mole, which this case does not show.
B. 45,X with a single maternal set
Monosomy X with maternal origin is not the genetic basis of hydatidiform mole.
C. 46,XX with all chromosomes of paternal origin (correct)
A purely paternal diploid genome is characteristic of a complete mole.
D. 46,XX with one maternal and one paternal set
Biparental diploid origin is the pattern of a normal conceptus.
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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