Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency.
Waldo SepulvedaCristian SeiltgensEduardo BetancourtMonica MangiamarchiPublished in: Fetal and pediatric pathology (2021)
Our case and others described in the literature demonstrate that fetal sex discordance detected by a combination of NIPT and subsequent ultrasound examination can be associated with several biological conditions, with DSD being the most significant.