Hydatidiform mole: genetic markers in diploid abortuses with macroscopic villous enlargement

Abstract

In a series of diploid abortion specimens with gross villous enlargement the parental origin was determined by chromosomal heteromorphisms, HLA typing, and enzyme analysis. Diploid androgenesis was the mechanism in 33 cases; in 28 cases the most likely origin was by duplication of a haploid sperm after fertilization of an anucleated ovum, whereas heteromorphisms in five cases indicated a dispermic origin. In one macroscopically complete molar specimen all marker techniques applied indicated a normal conception. In two homozygous specimens a second cell line with both maternal and paternal contributions indicated a twin gestation, whereas, in four conceptuses twinning was suggested solely by HLA determination or ultrasound scan. The observation of a heterogeneous origin of diploid moles, as indicated by three marker systems studied simultaneously, emphasizes that additional information about the frequency of different types of molar conceptions may be obtained by this approach.