Utilization of Chromogenic In Situ Hybridization to Assess Ploidy in the Diagnosis of Hydatidiform Mole

Abstract

Ploidy assessment is often required for the diagnosis of partial molar pregnancy. While fluorescence in situ hybridization has been shown to be effective, it is not available in many laboratories. We validated chromogenic in situ hybridization (CISH) for this purpose. CISH using probes to chromosomes 17 and 10 was performed on 20 POC cases with known cytogenetics to establish a reference percentage. This was then used to classify a randomized set of abnormal and normal cases. An abnormal CISH cutoff of greater than 7% was established. All abnormal cases (six triploid and three tetraploid), 11 "normal" (46, XX or XY or undetectable abnormalities), and one trisomy 10 were all correctly classified by the assay. CISH is a useful ancillary technique for the diagnosis of molar pregnancy. Its greater accessibility and ability to score even rare placental tissue in a background of maternal tissue offer advantages over other methods.