{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T14:50:11Z","timestamp":1785163811003,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T00:00:00Z","timestamp":1754697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T00:00:00Z","timestamp":1754697600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","award":["MRFFGHFM76777"],"award-info":[{"award-number":["MRFFGHFM76777"]}],"id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017473","name":"Australian Genomics Health Alliance","doi-asserted-by":"publisher","award":["GNT1113531"],"award-info":[{"award-number":["GNT1113531"]}],"id":[{"id":"10.13039\/501100017473","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    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\u2010of\u2010care investigations underwent exome and\/or genome sequencing (ES\/GS). This diagnostic before\u2010and\u2010after 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\u2010and\u2010after surveys were completed. Clinician estimates regarding PND recurrence changed for 45% (73\/161) of families after receiving test results, despite a genetic diagnosis being found in only 19%. Families with an \u2018\n                    <jats:italic>unknown likelihood<\/jats:italic>\n                    \u2019 of recurrence reduced from 26% to 15% (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.01). The information provided to parents about recurrence and reproductive planning increased significantly, both with and without a diagnosis, and clinicians reported that most parents expressed value was obtained from the investigation. The utility of genomic autopsy for clinical management is not restricted to families with a genetic finding.\n                  <\/jats:p>","DOI":"10.1111\/cge.70028","type":"journal-article","created":{"date-parts":[[2025,8,9]],"date-time":"2025-08-09T12:19:24Z","timestamp":1754741964000},"page":"109-121","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0828-1612","authenticated-orcid":false,"given":"Camille M.","family":"Schubert","sequence":"first","affiliation":[{"name":"School of Public Health University of Adelaide  South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilda R.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Pathology SA Pathology  Adelaide South Australia Australia"},{"name":"Australian Genomics  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher P.","family":"Barnett","sequence":"additional","affiliation":[{"name":"Paediatric and Reproductive Genetics Unit South Australian Clinical Genetics Service, Women's and Children's Hospital  North Adelaide South Australia Australia"},{"name":"Adelaide Medical School University of Adelaide  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamish S.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Pathology SA Pathology  Adelaide South Australia Australia"},{"name":"Australian Genomics  Melbourne Victoria Australia"},{"name":"Adelaide Medical School University of Adelaide  Adelaide South Australia Australia"},{"name":"Centre for Cancer Biology An Alliance Between SA Pathology and the University of South Australia  Adelaide South Australia Australia"},{"name":"UniSA Clinical and Health Sciences University of South Australia  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Sullivan","sequence":"additional","affiliation":[{"name":"School of Public Health University of Adelaide  South Australia Australia"},{"name":"Women and Kids Theme South Australian Health and Medical Research Institute  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Goodall","sequence":"additional","affiliation":[{"name":"Centre for Health Economics Research and Evaluation (CHERE) University of Technology Sydney  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Merlin","sequence":"additional","affiliation":[{"name":"School of Public Health University of Adelaide  South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Genomic Autopsy Study Research Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jogc.2019.04.001"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.01.017"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03995-z"},{"key":"e_1_2_10_5_1","unstructured":"PSANZ \u201cClinical Practice Guideline for Care Around Stillbirth and Neonatal Death: Perinatal Society of Australia and New Zealand \u201d2019."},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471-0528.17844"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101159"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.41"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.10.003"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2022-060318"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-02142-1"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27647"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2019.103208"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_10_16_1","volume-title":"Stata Meta\u2010Analysis Reference Manual [Computer Program]. Version Release 17","author":"Stata Statistical Software","year":"2021"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2022.25980"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-020-00164-7"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.013"},{"key":"e_1_2_10_20_1","volume-title":"Guide to Interpreting Genomic Reports: A Genomics Toolkit","author":"East K. C. W.","year":"2017"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0053-8"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0601-3"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-007-9094-3"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.10.004"},{"key":"e_1_2_10_25_1","unstructured":"J. N. A.DuggalandA.Pearn \u201cA Census of the Australasian Professional Genetic Workforce 2022\u20132023: Individual Survey: Human Genetics Society of Australia (HGSA) \u201d2023."}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70028","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70028","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:02:56Z","timestamp":1779786176000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,9]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70028"],"URL":"https:\/\/doi.org\/10.1111\/cge.70028","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70028\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70028\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70028\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70028\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70028\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70028\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,9]]},"assertion":[{"value":"2025-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}