Diagnosis of hydatidiform moles by polymorphic deletion probe fluorescence in Situ hybridization

Sarah Chiang, Ladan Fazlollahi, Anhthu Nguyen, Rebecca A. Betensky, Drucilla J. Roberts, A. John Iafrate

Research output: Contribution to journalArticlepeer-review


Because products of conception often contain maternal and villous tissues, the determination of maternal and villous genotypes based on genetic polymorphisms can help discern maternal and paternal chromosomal contribution and aid in the diagnosis of hydatidiform moles. Polymorphic deletion probe (PDP) fluorescence in situ hybridization (FISH) probes based on copy number variants are highly polymorphic and allow in situ determination of genetic identity. By using three informative PDPs on chromosomes 2p, 4q, and 8p, we compared maternal with villous genotypes and determined the ploidy of villous tissue. PDP FISH was performed on 13 complete moles, 13 partial moles, 13 nonmolar abortions, and an equivocal hydropic abortion. PDP FISH permitted definitive diagnosis of complete moles in five of 13 cases for which maternal and villous genotypes were mutually exclusive. A complete mole was highly suspected when all three PDP loci showed homozygous villous genotypes. The diagnosis of a complete mole by PDP FISH yielded a theoretical test sensitivity of 87.5%, specificity of 91.8%, an observed test sensitivity of 100%, and specificity of 92.3%. Triploidy was observed in all partial moles, in which diandric triploidy was confirmed in six cases. In the equivocal hydropic abortion, PDP FISH combined with p57 immunofluorescence revealed placental androgenetic/biparental mosaicism. PDP FISH can be used in clinical practice and research studies to subclassify hydatidiform moles and evaluate unusual products of conception.

Original languageEnglish (US)
Pages (from-to)406-415
Number of pages10
JournalJournal of Molecular Diagnostics
Issue number4
StatePublished - Jul 2011

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine


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