{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T02:41:14Z","timestamp":1768704074130,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002842","name":"Chiang Mai University","doi-asserted-by":"publisher","award":["Unassigned"],"award-info":[{"award-number":["Unassigned"]}],"id":[{"id":"10.13039\/501100002842","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:p>Early detection of Beckwith\u2013Wiedemann syndrome (BWS) is very important since it is very useful regarding counseling of parents concerning the risk of developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, prevention of neonatal hypoglycemia and even options of pregnancy termination in non\u2010viable fetuses. This report describes the prenatal classic sonographic triad of fetal BWS (omphalocele, macrosomia, macroglossia) and other supporting findings (hepatomegaly, adrenal enlargement) as well as additional postnatal evidence. Also, it demonstrates new molecular genetic evidence potentially associated with the disease (the presence of a novel heterozygous c.358G&gt;T variant of the<jats:italic>CDKN1C<\/jats:italic>gene). Importantly, we provide new evidence indicating that elevated levels of the four serum biomarkers (alpha\u2010fetoprotein, beta\u2010human gonadotropin, unconjugated estriol, and inhibin\u2010A) in late first or early second trimester might be strongly suggestive of BWS which may facilitate early detection especially in cases of no obvious anomaly. In conclusion, this study emphasizes on early detection of BWS as early as at 14 weeks of gestation, based on the abnormal rise of the four serum biomarkers together with omphalocele. To the best of our knowledge, this is the earliest prenatal detection of BWS ever reported. Finally, we provide new molecular genetic evidence that is, potentially associated with BWS.<\/jats:p>","DOI":"10.1002\/pd.5956","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T19:09:16Z","timestamp":1620068956000},"page":"823-827","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["New genetic and clinical evidence associated with fetal Beckwith\u2013Wiedemann syndrome"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0980-2128","authenticated-orcid":false,"given":"Kuntharee","family":"Traisrisilp","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Faculty of Medicine Chiang Mai University Meaung Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wisit","family":"Chankhunaphas","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Faculty of Medicine Chiang Mai University Meaung Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirinart","family":"Sirilert","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Faculty of Medicine Chiang Mai University Meaung Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varangtip","family":"Kuwutiyakorn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Chiang Mai University Meaung Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theera","family":"Tongsong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Faculty of Medicine Chiang Mai University Meaung Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2017.166"},{"key":"e_1_2_8_3_1","volume-title":"Beckwith Wiedemann Syndrome. 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