Chromosomal Abnormalities in Molar Pregnancy

Partial and complete hydatidiform moles occur with a frequency of approximately 1 in 1500 pregnancies in the United States; they are more common (1 in 250 pregnancies) in Asia. These moles have a risk of becoming invasive tumors.

A complete hydatidiform mole (CHM) consists of hyperplastic trophoblastic tissue without evidence of fetal development. The chromosomes in a CHM are of paternal origin. This entity can arise by fertilization of an enucleate (empty) ovum in one of two scenarios. The ovum may be fertilized with a single sperm, the chromosomes then undergoing duplication to form a diploid cell that forms trophoblastic tissue. In this scenario, the sperm must carry the X chromosome in order for the resulting cell to be viable. Alternatively, an enucleate ovum is fertilized by two sperm (X/X or X/Y), giving rise to a diploid cell that forms trophoblastic tissues.

A partial hydatidiform mole (PHM) is produced when two sperm fertilize a normal ovum. PHMs can also arise from fertilization of an ovum by a single sperm that subsequently undergoes chromosomal duplication. In either case, the resulting cell is triploid (i.e., the kary-otype is 69, XXX or 69, XYY). In this situation, both trophoblastic and fetal tissues can develop, and very rarely a fetus with triploidy can survive to term, although the postnatal life expectancy is extremely short. Approximately 16% of spontaneous abortions show triploidy.

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