{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T15:26:04Z","timestamp":1759937164234,"version":"3.40.5"},"reference-count":6,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"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":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Following termination of pregnancy due to multiple brain malformations, a non\u2010consanguineous couple of Jewish descent sought genetic counseling. Brain malformations identified on neurosonogram included corpus callosum dysgenesis, abnormal brain stem morphology, abnormal cortical sulcation and hypertelorism. Trio exome sequencing revealed a heterozygous de novo likely pathogenic variant in <jats:italic>KIDINS220<\/jats:italic> gene. Heterozygous variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO). Reports on prenatal findings are limited and primarily consist of cases of ventriculomegaly. We describe a more severe clinical presentation in a case with a heterozygous variant.<\/jats:p>","DOI":"10.1002\/pd.6682","type":"journal-article","created":{"date-parts":[[2024,10,5]],"date-time":"2024-10-05T03:59:07Z","timestamp":1728100747000},"page":"1518-1521","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9941-0215","authenticated-orcid":false,"given":"Hadas","family":"Miremberg","sequence":"first","affiliation":[{"name":"Division of Obstetric Ultrasound Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv 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Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genome Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adi","family":"Mory","sequence":"additional","affiliation":[{"name":"Genetics Institute and Genome Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0864-206X","authenticated-orcid":false,"given":"Gustavo","family":"Malinger","sequence":"additional","affiliation":[{"name":"Division of Obstetric Ultrasound Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9868-3548","authenticated-orcid":false,"given":"Karina Krajden","family":"Haratz","sequence":"additional","affiliation":[{"name":"Division of Obstetric Ultrasound Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.24885"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw082"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/jneurosci.21\u201001\u201000176.2001"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29694"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx263"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61858"}],"container-title":["Prenatal 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