{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:52:37Z","timestamp":1786978357942,"version":"build-2736575974"},"reference-count":55,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T00:00:00Z","timestamp":1701820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G\u2010banding karyotype in fetuses with central nervous system (CNS) abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random\u2010effects model.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty studies were included (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a01583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%\u201336%;\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u00a0=\u00a072%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%\u201334%;\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u00a0=\u00a074%]; (b) single CNS anomaly; 16% [95% CI 10%\u201323%;\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u00a0=\u00a041%]; (c) more than one CNS anomaly; 31% [95% Cl 21%\u201340%;\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u00a0=\u00a056%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%\u201357%;\n                      <jats:italic>I<\/jats:italic>\n                      <jats:sup>2<\/jats:sup>\n                      \u00a0=\u00a068%). The commonest syndromes in isolated cases were Lissencephaly 3 and X\u2010linked hydrocephalus.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6466","type":"journal-article","created":{"date-parts":[[2023,12,6]],"date-time":"2023-12-06T12:30:58Z","timestamp":1701865858000},"page":"422-431","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta\u2010analysis"],"prefix":"10.1002","volume":"44","author":[{"given":"Gillian V.","family":"Blayney","sequence":"first","affiliation":[{"name":"Fetal Medicine Department Royal Jubilee Maternity Service Belfast Health and Social Care Trust  Belfast UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eoghan","family":"Laffan","sequence":"additional","affiliation":[{"name":"Department of Radiology Children\u2019 Health Ireland at Crumlin  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Preethi A.","family":"Jacob","sequence":"additional","affiliation":[{"name":"Northampton General Hospital  Northampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6585-8265","authenticated-orcid":false,"given":"Caitlin D.","family":"Baptiste","sequence":"additional","affiliation":[{"name":"Columbia University  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Gabriel","sequence":"additional","affiliation":[{"name":"Praxis fu\u0308r Humangenetik Tu\u0308bingen  Tu\u0308bingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8593-2186","authenticated-orcid":false,"given":"Teresa N.","family":"Sparks","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynaecology &amp; 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