{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T21:52:41Z","timestamp":1771019561499,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T00:00:00Z","timestamp":1751155200000},"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":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p><jats:italic>CHD4<\/jats:italic>\u2010associated Sifrim\u2010Hitz\u2010Weiss syndrome (SIHIWES) is an autosomal dominant intellectual developmental disorder. The postnatally clinical manifestations primarily include heart defects, macrocephaly, and hypotonia. We report a well\u2010documented prenatal case of SIHIWES presenting with increased head circumference, polyhydramnios, and widened cerebral subarachnoid spaces. Trio\u2010based whole exome sequencing identified a de novo likely pathogenic variant in <jats:italic>CHD4<\/jats:italic>, confirming the diagnosis of SIHIWES in the fetus. Our report expands the prenatal phenotypic spectrum of SIHIWES and highlights the importance of considering whole exome sequencing in fetuses presenting with polyhydramnios, macrocephaly, and widened cerebral subarachnoid spaces.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6841","type":"journal-article","created":{"date-parts":[[2025,6,29]],"date-time":"2025-06-29T11:18:26Z","timestamp":1751195906000},"page":"1209-1212","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal Phenotype of a Heterozygous Missense <i>CHD4<\/i> Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8627-6048","authenticated-orcid":false,"given":"Fan","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Medical Genetics\/Prenatal Diagnostic Center West China Second University 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