{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T07:45:51Z","timestamp":1791877551270,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T00:00:00Z","timestamp":1788480000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005247","name":"University of British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005247","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":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had nondiagnostic chromosomal studies and pES at a tertiary care center in British Columbia, Canada (2016\u20132022). We assessed postnatal medical genetics reassessment, clinical drivers of reassessment, and outcomes of selective pES reinterpretation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Postnatal medical genetics reassessment occurred in 41% (25\/61) of children. Most reassessments occurred in the neonatal intensive care unit within the first week of life (68%, 17\/25) and were prompted by postnatal phenotype modifications in 44% (11\/25). Additional clinical drivers prompting reassessment included prenatally identified variants of uncertain significance and prenatal phenotypes of multisystem structural anomalies or unexplained hydrops. Of the children reassessed postnatally, 44% (11\/25) underwent pES reinterpretation. Explanatory genetic diagnoses following reassessment and pES reinterpretation were made in 27% (3\/11), representing 12% (3\/25) of those reassessed and 5% (3\/61) of the cohort. One additional postnatal genetic diagnosis was made, which explained a portion of the postnatal phenotype but was not considered explanatory for the prenatal findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Postnatal pES reinterpretation identified genetic diagnoses in carefully selected cases following medical genetics reassessment of children with nondiagnostic prenatal testing for fetal structural anomalies, supporting a structured, clinically guided approach to postnatal follow\u2010up.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70244","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T23:44:22Z","timestamp":1788565462000},"page":"1721-1731","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Beyond the Negative: Insights From Postnatal Medical Genetics Follow\u2010Up After Nondiagnostic Prenatal Exome Sequencing"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-8432-6442","authenticated-orcid":false,"given":"Sophie","family":"Albert","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1320-4271","authenticated-orcid":false,"given":"Anne","family":"Swenerton","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3128-913X","authenticated-orcid":false,"given":"Kirsten M.","family":"Niles","sequence":"additional","affiliation":[{"name":"Department of Obstetrics &amp; Gynaecology Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-3625","authenticated-orcid":false,"given":"Sylvie","family":"Langlois","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7757-8175","authenticated-orcid":false,"given":"Jessica L.","family":"Zambonin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine University of British Columbia  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102021\u2010107897"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6115"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.70112"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.16546"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6623"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5616"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6659"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6886"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010017\u20101860\u20101"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010025\u201001823\u2010y"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010020\u201000144\u2010x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24842"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100731\u20107"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.70190"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.12.011"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.70124"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010024\u201001624\u20109"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)31940\u20108"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(18)32042\u20107"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010025\u201001924\u20108"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.021"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20106\u201056"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103554"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70244","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.70244","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:55:18Z","timestamp":1791874518000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.70244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,4]]},"references-count":24,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/pd.70244"],"URL":"https:\/\/doi.org\/10.1002\/pd.70244","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,4]]},"assertion":[{"value":"2026-03-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}