{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T17:03:54Z","timestamp":1789232634662,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective cohort study of fetuses identified to have CNS abnormality on prenatal ultrasound and\/or magnetic resonance imaging. All fetuses were first analyzed by chromosomal microarray analysis (CMA). Fetuses with a confirmed aneuploidy or causal pathogenic copy\u2010number variant (CNV) on CMA did not undergo pES analysis and were excluded, while those with a negative CMA result were offered pES testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 167 pregnancies included in the study, 42 (25.1%) were identified to have a pathogenic or likely pathogenic (P\/LP) variant. The diagnostic rate was significantly higher in fetuses with a non\u2010isolated CNS abnormality than in those with a single CNS abnormality (35.7% (20\/56) <jats:italic>vs<\/jats:italic> 14.5% (8\/55); <jats:italic>P\u2009=<\/jats:italic>\u20090.010). Moreover, when a fetus had three or more CNS abnormalities, the positive diagnostic rate increased to 42.9%. A total of 25\/42 (59.5%) cases had <jats:italic>de<\/jats:italic>\u2010<jats:italic>novo<\/jats:italic> mutations, while, in the remaining cases, mutations were inherited and carried a significant risk of recurrence. Families whose fetus carried a P\/LP mutation were more likely to choose advanced pregnancy termination than those with a variant of uncertain significance, secondary\/incidental finding or negative pES result (83.3% (25\/30) <jats:italic>vs<\/jats:italic> 41.3% (38\/92); <jats:italic>P\u2009&lt;<\/jats:italic>\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>pES improved the identification of genetic disorders in fetuses with CNS anomalies without a chromosomal abnormality or CNV identified on CMA, regardless of the number of CNS anomalies and presence of extracranial abnormality. We also demonstrated that pES findings can significantly impact parental decision\u2010making. \u00a9 2023 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.26254","type":"journal-article","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T15:48:57Z","timestamp":1684511337000},"page":"721-726","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal exome sequencing analysis in fetuses with central nervous system anomalies"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0107-9796","authenticated-orcid":false,"given":"Y.","family":"Zhi","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Chen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Lv","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Cui","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Chang","sequence":"additional","affiliation":[{"name":"Scientific Research Office The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Wang","sequence":"additional","affiliation":[{"name":"Clinical Laboratory The\u00a0Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Cui","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University  Zhengzhou Henan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"AC05","article-title":"Evaluation of fetal central nervous system anomalies by ultrasound and its anatomical co\u2010relation","volume":"8","author":"Onkar D","year":"2014","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.22145"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.23616"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2009.04.002"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/OGX.0b013e318186d3ea"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(04)00027-9"},{"key":"e_1_2_8_8_1","first-page":"721","article-title":"Fetal neurosonogram. 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