Genetic studies on hydatidiform moles. I. The origin of partial moles.

A study was designed to investigate the genetic origin of hydatidiform moles. Fifty-nine specimens were obtained and, on a histological basis, separated into two entities: complete and partial. The study of the genetic origin of the 15 partial moles, using cytogenetic and biochemical markers, is described. All the partial moles examined cytogenetically were triploid. One had 71 chromosomes. The sex chromosome complements of seven cases were six XXY and one XXX. Origin by dispermy was possible in seven cases and was proven in four. With the use of biochemical markers a maternal contribution was identified in three cases, and the isoenzyme pattern suggested a trisomic state for at least one locus in four cases. The mechanism of origin of partial moles was compared with spontaneously aborted and liveborn triploids. All the patients were followed up for at least 9 months, and none required treatment for persistent trophoblastic activity.