{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T12:04:48Z","timestamp":1790337888437,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T00:00:00Z","timestamp":1739577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate the performance of targeted gene sequencing, expanded gene panels, and selected exomes for prenatally identified fetal anomalies, after non\u2010diagnostic microarray results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>All fetal samples received for genetic testing for fetal structural anomalies in the Canadian Maritime Provinces (2014\u20132022) were identified. Utilization and results of NGS sequencing strategies after a non\u2010diagnostic microarray were correlated with ultrasound findings and autopsy results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five hundred and ninety\u2010three cases of fetal anomalies with non\u2010diagnostic RAD results were identified, including 319 (54%) with isolated anomalies. Diagnostic yield from the microarray was 7.5%. Sequence\u2010based testing for 131 cases gave an overall diagnostic yield of 38% (8.4% of initial cohort). For isolated anomalies, diagnostic yield was highest in the intracranial, renal, and musculoskeletal systems (44%, 60%, 64% respectively). Appropriate targeted gene sequencing provided a diagnostic yield of 40%. With clinically indicated criteria for exome analysis, diagnostic yields were higher than when clinical information prompted use of a selected gene panel (73% vs. 27%). Expanding to an exome after a non\u2010diagnostic gene panel had an additional diagnostic yield of 13%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Multidisciplinary review and comprehensive clinical information can inform the selection of strategies for expanded genetic testing after non\u2010diagnostic microarray for fetal anomalies within a publicly funded health care system.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6759","type":"journal-article","created":{"date-parts":[[2025,2,15]],"date-time":"2025-02-15T14:09:36Z","timestamp":1739628576000},"page":"318-325","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non\u2010Diagnostic Microarray Result: A Population\u2010Based Cohort Study"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5672-7044","authenticated-orcid":false,"given":"Victoria M.","family":"Allen","sequence":"first","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Dalhousie University and IWK Health  Halifax Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Schollenberg","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine Dalhousie University and IWK Health  Halifax Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Aberg","sequence":"additional","affiliation":[{"name":"Maritime Medical Genetics Service IWK Health  Halifax Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u2010Ann K.","family":"Brock","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Dalhousie University and IWK Health  Halifax Canada"},{"name":"Department of Pathology &amp; Laboratory Medicine Dalhousie University and IWK Health  Halifax Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1203382"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)32042\u20107"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140\u20106736(18)31940\u20108"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27592"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001817"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100731\u20107"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.16616"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102021\u2010107897"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102024\u2010109878"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6692"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.24967"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27647"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6537"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41372\u2010023\u201001817\u2010y"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001590\u20102"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2024.05.005"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27440"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890.2024.2399317"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.27491"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884\u2010024\u201006782\u20108"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6479"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6168"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6759","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T01:55:32Z","timestamp":1749174932000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,15]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1002\/pd.6759"],"URL":"https:\/\/doi.org\/10.1002\/pd.6759","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,15]]},"assertion":[{"value":"2024-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}