{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:29Z","timestamp":1792153049057,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,12,23]],"date-time":"2008-12-23T00:00:00Z","timestamp":1229990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>OBJECTIVE:<\/jats:bold> To assess the frequency of Beckwith\u2010Wiedemann syndrome (BWS) among fetuses with an ultrasound diagnosis of isolated omphalocele and to examine relevant clinical variables, in particular route of conception. <jats:bold>MATERIALS AND METHODS:<\/jats:bold> An ultrasound and consultation database (1988\u20132007) was searched and cases were included that met the following criteria: omphalocele, no additional major structural anomaly or autosomal aneuploidy, and either newborn examination or molecular diagnostic studies for BWS. Medical records were reviewed and a nested case\u2010control analysis matching day of birth assessed the route of conception, given the changing prevalence of assisted reproduction during the study period. <jats:bold>RESULTS:<\/jats:bold> Thirty cases of isolated omphalocele were identified. Beckwith\u2010Wiedemann syndrome was diagnosed in six cases (6\/30 [20.0%]); four by newborn examination (4\/6) and two on prenatal molecular studies (2\/6). Of note, one case of BWS had a karyotype of 47,XXX, the remainder was euploid. Compared with isolated omphaloceles, fetuses with BWS more often were twins (3\/6 vs. 1\/24; <jats:italic>p<\/jats:italic> &lt; 0.001), had polyhydramnios (4\/6 vs. 2\/24; <jats:italic>p<\/jats:italic> &lt; 0.001), were macrosomic at birth (3\/6 vs. 4\/24 <jats:italic>p<\/jats:italic> &lt; 0.001), and had been conceived by assisted reproduction (3\/6 vs. 2\/22; <jats:italic>p<\/jats:italic> = 0.04). When compared with normal controls matched by date of birth, conception by assisted reproductive technique among BWS births was highly significant, (<jats:italic>p<\/jats:italic> &lt; 0001). <jats:bold>CONCLUSIONS:<\/jats:bold> Beckwith\u2010Wiedemann syndrome is present in a noteworthy portion of fetuses with isolated omphalocele on ultrasound, and prenatal molecular studies are warranted. Even among this small cohort, a recurring theme of conception by assisted reproduction exists. Birth Defects Research (Part A), 2009. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20547","type":"journal-article","created":{"date-parts":[[2008,12,23]],"date-time":"2008-12-23T20:30:36Z","timestamp":1230064236000},"page":"58-62","source":"Crossref","is-referenced-by-count":39,"title":["Isolated fetal omphalocele, Beckwith\u2010Wiedemann syndrome, and assisted reproductive technologies"],"prefix":"10.1002","volume":"85","author":[{"given":"Louise","family":"Wilkins\u2010Haug","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amina","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pam","family":"Hawley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol B.","family":"Benson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,12,23]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"470","article-title":"An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births","volume":"33","author":"Baird PA","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.08.007"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.78.3.F209"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2004.07.964"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201463"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/346031"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/338934"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04219.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/374824"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/423902"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/351665a0"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi107"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9340"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.5858\/2007-131-131-PMD"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31323"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000090847"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1998.11060391.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dei405"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1317"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30058"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1155"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.20547","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.20547","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T17:54:51Z","timestamp":1694627691000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.20547"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,23]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["10.1002\/bdra.20547"],"URL":"https:\/\/doi.org\/10.1002\/bdra.20547","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,23]]}}}