{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:14:31Z","timestamp":1790280871528,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T00:00:00Z","timestamp":1729382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008485","name":"Schweizerische Akademie der Medizinischen Wissenschaften","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008485","id-type":"DOI","asserted-by":"publisher"}]}],"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>Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to highlight the prenatal diagnosis of WABS through ultrasound findings and genetic testing. We report a case of prenatal diagnosis of WABS in a 24\u2010week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal\u2010systemic shunts. The couple had a history of a prior pregnancy termination due to severe intrauterine growth restriction and cerebral malformations. Whole exome sequencing revealed compound heterozygous pathogenic variants [NM_030653.4:c.1403dupT, p.(Ser469Valfs*32) and c.1672C&gt;T, p.(Arg558*)] in the <jats:italic>DDX11<\/jats:italic> gene, consistent with WABS. The same pathogenic variants were identified in the prior terminated fetus upon subsequent analysis. Postmortem examination of the proband confirmed the prenatal ultrasound findings. This case expands the understanding of the prenatal phenotypic spectrum of WABS by identifying specific cerebral and extracerebral anomalies associated with pathogenic variants in the <jats:italic>DDX11<\/jats:italic> gene. Incorporating advanced genetic diagnostics like whole exome sequencing into prenatal care provides valuable information for genetic counseling and management of rare genetic disorders.<\/jats:p>","DOI":"10.1002\/pd.6684","type":"journal-article","created":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T03:15:11Z","timestamp":1729480511000},"page":"1526-1529","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the <i>DDX11<\/i> Gene Associated With Growth Restriction, Cerebral, and Extra\u2010Cerebral Malformations"],"prefix":"10.1002","volume":"44","author":[{"given":"C.","family":"Kratochwila","sequence":"first","affiliation":[{"name":"Ultrasound and Fetal Medicine Unit Department Woman\u2010Mother\u2010Child Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3021-8129","authenticated-orcid":false,"given":"L.","family":"Pomar","sequence":"additional","affiliation":[{"name":"Ultrasound and Fetal Medicine Unit Department Woman\u2010Mother\u2010Child Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Lebon","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Department Woman\u2010Mother\u2010Child Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Gengler","sequence":"additional","affiliation":[{"name":"Department of Pathology Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. C.","family":"Pavlidou","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010M.","family":"Good","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kumps","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4453-1167","authenticated-orcid":false,"given":"J.","family":"Sichitiu","sequence":"additional","affiliation":[{"name":"Ultrasound and Fetal Medicine Unit Department Woman\u2010Mother\u2010Child Lausanne University Hospital and University of Lausanne  Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12501"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a4725"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002\u20109378(84)90027\u20109"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1002220"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.016"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61284"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes9110564"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38382"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6684","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T01:25:14Z","timestamp":1731547514000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,20]]},"references-count":8,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/pd.6684"],"URL":"https:\/\/doi.org\/10.1002\/pd.6684","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,20]]},"assertion":[{"value":"2024-07-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}