{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:51:39Z","timestamp":1786978299418,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,1,24]],"date-time":"2022-01-24T00:00:00Z","timestamp":1642982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally by ES.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The medical files of a cohort of 138 patients diagnosed postnatally with a neurocognitive disorder using ES were reviewed for prenatal sonographic data. The Online Mendelian Inheritance in Man (OMIM) database was searched for prenatally detectable phenotypes for all genes identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prenatal imaging data were available for 122 cases. Of these, 29 (23.75%) had fetal structural abnormalities and another 29 had other ultrasound abnormalities (fetal growth restriction, polyhydramnios, elevated nuchal translucency). In 30 patients, structural aberrations that were not diagnosed prenatally were detected at birth; in 21 (17.2%), the abnormalities could theoretically be detected prenatally by third\u2010trimester\/targeted scans. According to OMIM, 55.9% of the diagnosed genes were not associated with structural anomalies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Most patients (52.5%) with postnatally diagnosed neurocognitive disorders did not have prenatal sonographic findings indicating prenatal ES should be considered. The prevalence of specific prenatal phenotypes such as fetal growth restriction and polyhydramnios in our cohort suggests that additional prenatal findings should be assessed as possible indications for prenatal ES.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6095","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T22:38:12Z","timestamp":1642199892000},"page":"717-724","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4418-7551","authenticated-orcid":false,"given":"Rivka","family":"Sukenik\u2010Halevy","sequence":"first","affiliation":[{"name":"Raphael Recanati Genetic Institute Rabin Medical Center \u2013 Beilinson Hospital  Petah Tikva Israel"},{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Perlman","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Ultrasound Unit Helen Schneider Women's Hospital Rabin Medical Center  Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noa","family":"Ruhrman\u2010Shahar","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute Rabin Medical Center \u2013 Beilinson Hospital  Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Offra","family":"Engel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Meir Medical Center  Kfar Saba Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naama","family":"Orenstein","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel  Petah Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Gonzaga\u2010Jauregui","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center  Tarrytown New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan R.","family":"Shuldiner","sequence":"additional","affiliation":[{"name":"Regeneron Genetics Center  Tarrytown New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Regeneron Genetics Center","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurit","family":"Magal","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute Rabin Medical Center \u2013 Beilinson Hospital  Petah Tikva 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