{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T23:00:13Z","timestamp":1779145213137,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:00:00Z","timestamp":1769126400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a case of a male fetus born to an unrelated couple with a fetal phenotype of an omphalocele and inferior vermian hypoplasia. Prenatal trio exome sequencing identified a maternally inherited pathogenic\n                    <jats:italic>CDKN1C<\/jats:italic>\n                    variant consistent with Beckwith\u2010Wiedemann syndrome (BWS). This finding prompted targeted testing of the proband's sibling, who was confirmed to carry the same variant. Posterior fossa abnormalities have been reported in cases with BWS, and specifically in children with the\n                    <jats:italic>CDKN1C<\/jats:italic>\n                    loss\u2010of\u2010function variant.\n                  <\/jats:p>","DOI":"10.1002\/pd.70075","type":"journal-article","created":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T03:49:47Z","timestamp":1769226587000},"page":"458-462","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Case of Familial\n                    <i>CDKN1C<\/i>\n                    \u2010Related Beckwith\u2010Wiedemann Syndrome"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7407-4493","authenticated-orcid":false,"given":"Lyndsay","family":"Creswell","sequence":"first","affiliation":[{"name":"Fetal Medicine Unit University College London Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pranav","family":"Pandya","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit University College London Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Hillman","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit University College London Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Goldman","sequence":"additional","affiliation":[{"name":"Medical Student Queen Mary University of London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[{"name":"South West Thames Centre for Genomics St George's, Epsom and St Helier University Hospitals and Health Group  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Gardham","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,23]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2017.166"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.51"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63777"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35358"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22824"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102013\u2010304054"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70075","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.70075","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.70075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:20:41Z","timestamp":1773249641000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.70075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,23]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/pd.70075"],"URL":"https:\/\/doi.org\/10.1002\/pd.70075","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,23]]},"assertion":[{"value":"2025-09-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}