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Anatomy · Embryology: complete hydatidiform mole
Sample itemA woman at 10 weeks has vaginal bleeding, a uterus larger than dates and a snowstorm appearance on ultrasound without a fetus. The villi are diffusely swollen. What is the usual karyotype?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. 46,XX, entirely paternal in origin
A complete mole results from fertilisation of an empty ovum, which has lost its maternal nuclear DNA, by a single sperm that duplicates, so the genome is 46,XX and entirely paternal. No fetal tissue forms and the risk of choriocarcinoma is higher. A partial mole is triploid and may contain fetal parts.
Option by option
A. 69,XXY, with two paternal sets
Triploidy with two paternal sets is a partial mole, which contains fetal tissue.
B. 46,XX, with one maternal and one paternal set
A normal biparental karyotype produces a normal embryo.
C. 46,XX, entirely paternal in origin (correct)
Correct. The empty egg and duplicated paternal genome give a complete mole.
D. 45,X, entirely maternal in origin
Monosomy X with maternal origin describes Turner syndrome and not molar pregnancy.
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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