{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Schubert CM"],"funding":["Government of Australia","Australian Government","Australian Genomics Health Alliance"],"pagination":["109-121"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12674983"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["109(1)"],"pubmed_abstract":["Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and likelihood of recurrence, often with limited use of molecular analysis. In the Australian Genomic Autopsy Study (GAS) cases that were unresolved following standard-of-care investigations underwent exome and/or genome sequencing (ES/GS). This diagnostic before-and-after study measured the changes in clinical management, in terms of the effect on clinical counselling that was provided to parents following ES/GS. Clinicians were surveyed before and after receiving sequencing results about the likelihood of recurrence and the reproductive planning advice they would provide to families. 161 pairs of before-and-after surveys were completed. Clinici"],"journal":["Clinical genetics"],"pubmed_title":["Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death."],"pmcid":["PMC12674983"],"funding_grant_id":["GNT1113531","MRFFGHFM76777"],"pubmed_authors":["Scott HS","Slee J","Shah M","Lin R","Chung CWT","Douglas L","Cunningham F","Perry-Keene J","Rajagopalan S","Wadling B","Maxwell G","Enriquez A","Milnes D","Richardson J","Fahey M","Horton A","Russell M","Ha T","Merlin T","Kevin L","Kamien B","Pope-Couston R","Davies J","McCarthy H","O'Sullivan S","Lewit-Mendes M","Dearman J","Goodall S","Fleischer R","Charles A","Barth L","Badman S","Foo T","Engel A","Riley K","Prawer Y","Jayasinghe K","Martinez NN","Pachter N","Barnett CP","Goel H","Fennell AP","Kassahn K","Poogoda S","Richmond C","Rigby J","Temple SE","Rodgers J","Emma K","Clair LS","Worgan L","Regan M","Higgins M","Pinner JR","De Jong L","Davis T","Brown E","Goh S","Minto T","Kulkarni A","Freckman ML","Curd H","Fitzgerald L","Parker R","Poulton C","Liebelt J","Sandaradura SA","Arts P","McGinnis K","Sallevelt S","Li M","Jackson MR","Darmody T","McGregor L","Schubert CM","Genomic Autopsy Study Research Network","Gorrie A","Gelfand N","Ward M","McGillivray G","Frank MS","Dunstan P","Sekar R","Krause M","Vasudevan A","Amor DJ","Hunter MF","Hopper B","Smyth K","Murali K","Sullivan T","O'Donnell S","Pathak G","Bouman A","Verma K","Smith L","Le Fevre A","Wallis M","Lam T","Ma A","Vora B","Sherlock MC","LeBlanc S"],"additional_accession":[]},"is_claimable":false,"name":"Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.","description":"Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and likelihood of recurrence, often with limited use of molecular analysis. In the Australian Genomic Autopsy Study (GAS) cases that were unresolved following standard-of-care investigations underwent exome and/or genome sequencing (ES/GS). This diagnostic before-and-after study measured the changes in clinical management, in terms of the effect on clinical counselling that was provided to parents following ES/GS. Clinicians were surveyed before and after receiving sequencing results about the likelihood of recurrence and the reproductive planning advice they would provide to families. 161 pairs of before-and-after surveys were completed. Clinici","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-05T21:58:05.283Z","creation":"2026-05-22T03:16:00.602Z"},"accession":"S-EPMC12674983","cross_references":{"pubmed":["40782035"],"doi":["10.1111/cge.70028"]}}