{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Westenius E"],"funding":["Vetenskapsrådet","Karolinska Institutet","Hjärnfonden","Stockholms Läns Landsting"],"pagination":["487-493"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9804469"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["60(4)"],"pubmed_abstract":["<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%). Path"],"journal":["Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology"],"pubmed_title":["Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting."],"pmcid":["PMC9804469"],"funding_grant_id":["FoUI‐961392"],"pubmed_authors":["Westenius E","Sahlin E","Lindstrand A","Conner P","Iwarsson E"],"additional_accession":[]},"is_claimable":false,"name":"Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.","description":"<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%). Path","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-04-08T12:13:44.643Z","creation":"2025-04-06T09:02:59.269Z"},"accession":"S-EPMC9804469","cross_references":{"pubmed":["35397126"],"doi":["10.1002/uog.24911"]}}