Rapid diagnosis and classification of hydatidiform moles with polymerase chain reaction

Abstract

The purpose of our study was to determine whether the polymerase chain reaction can be used to diagnose the gestational trophoblastic disease hydatidiform mole and distinguish between partial, monospermic complete, and dispermic complete hydatidiform mole. In 20 cases of well-characterized hydatidiform mole, deoxyribonucleic acid was amplified from parental and molar samples by using primers for the variable number tandem repeat sequence YNZ22 and for sex chromosome-specific sequences. Polymerase chain reaction amplification of the YNZ22 polymorphism identified contributions from both parents in 5 of 7 partial hydatidiform moles. Nine of 13 complete hydatidiform moles were shown to be androgenetic by using primers for the YNZ22 polymorphism. Two of the complete hydatidiform moles were classified as dispermic on the basis of Y chromosome-specific sequences. Polymerase chain reaction was shown to be a rapid and accurate method of identifying parental contributions to the molar genome and thus has the potential to be used for diagnosis and classification of hydatidiform moles.