Partial hydatidiform moles with unclear histopathological profile - importance of genetic diagnostics

Abstract

Aim: The aim of the study was the genetic characterization of a set of cases with an unclear morphological profile of the placental tissue suspected of partial hydatidiform mole.

Patients and methods: This work presents the results of genetic analysis of a group of 10 patients with various clinical manifestations of reproductive loss, where partial hydatidiform mole was suspected on the basis of histopathological examination. The composition of the genome of the products of conception was determined by STR genotyping using a commercial kit Devyser Compact v3 (Devyser).

Results and conclusions: Out of 10 analysed cases, five had diandric monogynic triploid genome, characteristic for partial mole. Aneuploidies of chromosomes 13, 18, 21, X and Y were excluded in four cases and Patau's syndrome was diagnosed in one case. In the case of unclear histopathological profile, consultative DNA analysis (ideally STR genotyping) can significantly help the pathologist in the differential diagnosis of partial mole. The histopathological profile of partial hydatidiform mole may be in some cases incomplete, unclear, especially in the early weeks of gestation, which can lead to the false negativity of the examination. On the other hand, other pathologies, for example aneuploides or digynic triploidy, may produce a histopathological profile similar to partial mole, which leads to false positivity. Accurate diagnosis of partial hydatidiform mole using molecular genetic methods contributes to the determination of adequate dispensary care for patients.