{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T10:26:47Z","timestamp":1789122407179,"version":"build-2803163510"},"reference-count":48,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["T32 GM07526"],"award-info":[{"award-number":["T32 GM07526"]}],"id":[{"id":"10.13039\/100000057","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":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Exome sequencing (ES) benefits the genetic work\u2010up for fetuses with structural anomalies, but data on its utility for fetuses without anomalies and stillbirths is more limited. We report our experience with prenatal ES for all three indications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We retrospectively reviewed results from 344 trio\u2010ES performed for fetuses with structural anomalies (<jats:italic>N<\/jats:italic>\u00a0=\u00a0262), stillbirths (<jats:italic>N<\/jats:italic>\u00a0=\u00a039), and fetuses without anomalies (<jats:italic>N<\/jats:italic>\u00a0=\u00a043), many of which had a relevant family history. We classified pathogenic variants (P), likely pathogenic variants (LP), or variants of uncertain significance (VUS) favoring pathogenicity in a gene consistent with the fetal phenotype as diagnostic results. We used Fisher's exact test for statistical analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Trio\u2010ES provided a diagnosis for 93\/262 (35.5%) fetuses with structural anomalies, with comparable yields for multiple and single anomalies (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.81). A molecular diagnosis was made for 10\/39 stillbirths (25.6%), of which all but one had structural anomalies, and 66.6% had multiple anomalies. In the absence of structural anomalies, one of 43 fetuses (2.3%) was found to have compound heterozygous pathogenic variants in <jats:italic>ORC6<\/jats:italic> associated with Meier\u2010Gorlin syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal trio\u2010ES yields molecular diagnoses across a spectrum of indications. Larger studies are needed to further define the added benefits and challenges of diagnostic ES for fetuses without anomalies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6817","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T10:47:20Z","timestamp":1748342840000},"page":"1313-1324","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7746-3594","authenticated-orcid":false,"given":"Roni","family":"Zemet","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Obstetrics and Gynecology Division of Reproductive Endocrinology and Infertility Baylor College of Medicine  Houston Texas 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