{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T12:51:01Z","timestamp":1782910261570,"version":"3.54.5"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001445","name":"Alex's Lemonade Stand Foundation for Childhood Cancer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001445","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001021","name":"Damon Runyon Cancer Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001021","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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The objective of this study was to describe molecular findings and phenotypic features among individuals referred for prenatal Beckwith\u2010Wiedemann syndrome (BWS) testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Molecular diagnostic testing was performed using a sensitive quantitative real\u2010time PCR\u2010based assay capable of detecting mosaic methylation to the level of 3% at IC1 and IC2. Sanger sequencing of <jats:italic>CDKN1C<\/jats:italic> was performed in cases with normal methylation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 94 patients tested, a molecular diagnosis was identified for 25.5% of cases; 70.9% of diagnosed cases had loss of methylation at IC2, 4.2% had gain of methylation at IC1, 12.5% had paternal uniparental isodisomy, and 12.5% had <jats:italic>CDKN1C<\/jats:italic> loss\u2010of\u2010function variants. Methylation level changes in prenatal cases were significantly greater than changes identified in cases tested after birth. Cases with a prenatal molecular diagnosis had a significantly greater number of BWS\u2010associated phenotypic features. The presence of either macroglossia or placentomegaly was most predictive of a BWS diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results support the consensus statement advocating BWS molecular testing for all patients with one or more BWS\u2010associated prenatal features and suggest that low\u2010level mosaic methylation changes may be uncommon among prenatal BWS diagnoses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5953","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T18:53:58Z","timestamp":1620759238000},"page":"817-822","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal molecular testing and diagnosis of Beckwith\u2010Wiedemann syndrome"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6083-1824","authenticated-orcid":false,"given":"Samuel 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