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.
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Article Synopsis
- The study utilized chromogenic in situ hybridization and immunohistochemistry to distinguish between partial hydatidiform mole (PHM), complete hydatidiform mole (CHM), and non-molar hydropic abortion (HA) in products of conception (POCs).
- A retrospective analysis of 44 POCs revealed a high accuracy rate, with Kappa agreement at 95.4%, effective in diagnosing the conditions and differentiating between triploid and diploid specimens.
- The findings suggest these methods could serve as reliable surrogate markers for chromosomal ploidy, prompting future research on fresh specimens and comparing results with other diagnostic techniques like flow cytometry and fluorescence in situ hybridization.
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