biostudies-literatureWestenius EVetenskapsrådetKarolinska InstitutetHjärnfondenStockholms Läns Landsting487-493https://www.ebi.ac.uk/biostudies/studies/S-EPMC9804469biostudies-literatureUnknown60(4)<h4>Objective</h4>To investigate the diagnostic yield of clinical whole-genome sequencing (WGS) in prenatally diagnosed non-immune hydrops fetalis (NIHF).<h4>Methods</h4>This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy-number variants, referred for analysis by WGS with an in-silico panel of 281 genes associated with hydrops fetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy-number variants and had not undergone WGS.<h4>Results</h4>Of the 23 fetuses in the main cohort, a molecular diagnosis was achieved in 12 (52.2%). PathUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyDiagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.PMC9804469FoUI‐961392Westenius ESahlin ELindstrand AConner PIwarsson EfalseDiagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.<h4>Objective</h4>To investigate the diagnostic yield of clinical whole-genome sequencing (WGS) in prenatally diagnosed non-immune hydrops fetalis (NIHF).<h4>Methods</h4>This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy-number variants, referred for analysis by WGS with an in-silico panel of 281 genes associated with hydrops fetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy-number variants and had not undergone WGS.<h4>Results</h4>Of the 23 fetuses in the main cohort, a molecular diagnosis was achieved in 12 (52.2%). Path2022-01-01T00:00:00Z2022 Oct2026-04-08T12:13:44.643Z2025-04-06T09:02:59.269ZS-EPMC98044693539712610.1002/uog.24911