A Unique NIPT Discordance: FISH Comes to Rescue

Abstract

Detection of mosaicism in prenatal genetic screening or diagnostic tests has always been a challenge both technologically and in predicting clinical outcomes. Riddled with concerns of false positives, confined mosaicism and other technological limitations, mosaicism can pose significant challenges in leading to an accurate diagnosis. Here we present a case where unique mosaicism was detected following a case of the high-risk non-invasive prenatal screening test (NIPT). Currently, as the most sensitive prenatal screening test, NIPT has proven consistency in even identifying mosaic cases of trisomies. Choosing the appropriate confirmatory test for a high-risk NIPT becomes all the more important for accurate counselling, diagnosis and taking further reproductive decisions.