{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T02:52:35Z","timestamp":1782442355479,"version":"3.54.5"},"reference-count":74,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T00:00:00Z","timestamp":1657670400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Beckwith\u2013Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic\/genetic aberrations on chromosome 11p15.4p15.5. There is no consensus criterion for prenatal diagnosis of BWS. Methods: Three BWS patients with their clinical histories, prenatal ultrasonographic features, and results of molecular diagnosis were presented. Likewise, by incorporating the findings of our cases and literature review, the phenotypic spectrum and genotype\u2013phenotype correlations of fetal BWS were summarized, and a practical approach in prenatal diagnosis of BWS was proposed. Results: A total of 166 BWS cases with prenatal features were included for analysis. Common fetal features include abdominal wall defects (42.8%), polyhydramnios (33.1%), and macrosomia (32.5%). Molecular pathologies include methylation changes in imprinting control region 1 and 2 (ICR1 and ICR2), paternal uniparental disomy of chromosome 11p15.5, copy number change involving 11p15, etc. Some genotype\u2013phenotype correlations were observed. However, the broad phenotypic spectrum but limited features manifested by affected fetuses rendering ultrasonographic diagnosis not easy. Conclusions: Molecular tests are used for prenatal diagnosis of BWS suspected by ultrasonography. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is recommended as the first-line molecular tool because it simultaneously detects ICR1\/ICR2 methylation statuses and copy numbers that solve the majority of clinical cases in the prenatal scenario.<\/jats:p>","DOI":"10.3390\/diagnostics12071709","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T22:06:00Z","timestamp":1657749960000},"page":"1709","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Proposal for Practical Approach in Prenatal Diagnosis of Beckwith\u2013Wiedemann Syndrome and Review of the Literature"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4925-7101","authenticated-orcid":false,"given":"Gwo-Chin","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan"},{"name":"Research Department, Changhua Christian Hospital, Changhua 50006, Taiwan"},{"name":"Department of Medical Laboratory Science and Biotechnology, Central Taiwan University of Science and Technology, Taichung 40601, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tze-Ho","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua 50006, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Ju","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua 50006, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Jay","family":"Lee","sequence":"additional","affiliation":[{"name":"Research Department, Changhua Christian Hospital, Changhua 50006, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Hsiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Welgene Biotechnology Company, Nangang Business Park, Taipei 11560, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5076-2917","authenticated-orcid":false,"given":"Ming","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan"},{"name":"Research Department, Changhua Christian Hospital, Changhua 50006, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua 50006, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan"},{"name":"Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei 10041, Taiwan"},{"name":"Department of Medical Science, National Tsing Hua University, Hsinchu 30013, Taiwan"},{"name":"Department of Biomedical Science, Da-Yeh University, Changhua 51591, Taiwan"},{"name":"Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung 40227, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/pd.1155","article-title":"Prenatal diagnosis of Beckwith-Wiedemann syndrome","volume":"25","author":"Williams","year":"2005","journal-title":"Prenat. 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