Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. Sparks Teresa N et al. The New England journal of medicine 2020 Oct

Hot Topics of the Day|PHGKB

 Prenatal Testing

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks Teresa N et al. The New England journal of medicine 2020 Oct

The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. In this large case series of 127 fetuses with unexplained non immune hydrops fetalis, we identified a diagnostic genetic variant in approximately one third of the cases.