Discordant sex between fetal screening and postnatal phenotype requires evaluation.
Heather M ByersWhitney Neufeld-KaiserEdith Y ChangKaren TsuchiyaErin S OehlerMargaret P AdamPublished in: Journal of perinatology : official journal of the California Perinatal Association (2018)
We present four cases illustrating potential etiologies of discordant cfDNA result and postnatal phenotypic sex. Unanticipated cfDNA results offer the perinatologist a unique opportunity for early diagnosis and targeted treatment of various conditions, many of which may not have otherwise been detected in the perinatal period.