{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T10:40:31Z","timestamp":1792752031280,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T00:00:00Z","timestamp":1786838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T00:00:00Z","timestamp":1786838400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"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>Objectives<\/jats:title>\n                    <jats:p>To describe a cohort of fetuses with abnormal prenatal findings in whom exome sequencing (ES) identified genetic diagnoses that refined prognostic assessment and reduced prognostic uncertainty.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively reviewed all fetal ES studies performed at our center between 2017 and 2025 for structural or biochemical abnormalities. Cases with a definitive molecular diagnosis were identified, and those with predicted mild, isolated, transient, or treatable phenotypes were classified as having comparatively favorable prognostic implications. Clinical findings and expected postnatal outcomes were analyzed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 1692 fetuses undergoing ES, a molecular diagnosis was identified in 291 (17%). Of these, five cases (\u223c2%) were considered reassuring: isolated postaxial polydactyly due to a GLI1 variant; X\u2010linked ichthyosis (STS) in a fetus with low estriol; isolated situs inversus; CFAP52\u2010related situs inversus totalis; and MAGED2\u2010associated transient antenatal Bartter syndrome. In all cases, ES refined prognosis and reduced the likelihood of severe syndromic conditions, enabling clearer counseling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Beyond detecting severe disorders, ES may help distinguish mild or manageable conditions from complex syndromes. In selected cases, it provides meaningful reassurance, reduces uncertainty, and supports informed prenatal decision\u2010making.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70239","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T02:18:21Z","timestamp":1786933101000},"page":"1746-1751","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9237-8929","authenticated-orcid":false,"given":"Jonathan","family":"Rips","sequence":"first","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-0376","authenticated-orcid":false,"given":"Hagar","family":"Mor\u2010Shaked","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rivka","family":"Birnbaum","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avital","family":"Eilat","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Goldwicht","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9947-035X","authenticated-orcid":false,"given":"Shay","family":"Porat","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Hadassah Medical Center and Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uri","family":"Erlik","sequence":"additional","affiliation":[{"name":"Maayane Hayeshua Medical Center Gray Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilach","family":"Benyamini","sequence":"additional","affiliation":[{"name":"Genetic Institute Shamir Medical Center (Assaf Harofe) Gray Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-3599","authenticated-orcid":false,"given":"Hagit","family":"Daum","sequence":"additional","affiliation":[{"name":"Department of Genetics Hadassah Medical Center  Jerusalem Israel"},{"name":"Faculty of Medicine Hebrew University of Jerusalem  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1590\/1516\u20103180.2019.026906082019"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.05.052"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.14453"},{"key":"e_1_2_10_5_1","volume-title":"Reducing Birth Defects: Meeting the Challenge in the Developing World","author":"Institute of Medicine Committee on Improving Birth Outcomes","year":"2003"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010024\u201001989\u20102"},{"key":"e_1_2_10_7_1","volume-title":"Thompson & Thompson Genetics in Medicine E\u2010Book: Thompson & Thompson Genetics in Medicine E\u2010Book","author":"Nussbaum R. 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