High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Huda B Al-KouatlyMona M MakhamrehStephanie M RiceKelsey SmithChristopher HarmanAndrea QuinnBreanna N ValcarcelBrandy FirmanRuby LiuMadhuri HegdeElizabeth CritchlowSeth I BergerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
The etiology of NIHF predicts postnatal prognosis and recurrence risk in future pregnancies. ES provides high incremental diagnostic yield for NIHF after standard-of-care testing and should be considered in the workup.