{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:32:56Z","timestamp":1791261176028,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T00:00:00Z","timestamp":1573430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Shanghai municipal medical and health discipline","award":["2017ZZ02015"],"award-info":[{"award-number":["2017ZZ02015"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Williams\u2013Beuren syndrome (WBS) is a well\u2010defined multisystem chromosomal disorder that is caused by a chromosome 7q11.23 region heterozygous deletion. We explored prenatal diagnosis of WBS by ultrasound as well as multiple genetic methods to characterize the structural variants of WBS prenatally. Expanded noninvasive prenatal testing (NIPT\u2010plus) was elected as a regular prenatal advanced screen for risk assessments of fetal chromosomal aneuploidy and genome\u2010wide microdeletion\/microduplication syndromes at the first trimester. At the second and three trimester, seven prenatal cases of WBS were evaluated for the indication of the invasive testing, the ultrasound features, cytogenetic, single\u2010nucleotide polymorphism array (SNP array), and fluorescent quantitative PCR (QF\u2010PCR) results. The NIPT\u2010plus results for seven fetuses were low risk. All cryptic aberrations were detected by the SNP array as karyotyping analyses were negative. Subsequently, QF\u2010PCR further confirmed the seven deletions. Combining our cases with 10 prenatal cases from the literature, the most common sonographic features were intrauterine growth retardation (82.35%, 14\/17) and congenital cardiovascular abnormalities (58.82%, 10\/17). The manifestations of cardiovascular defects mainly involve supravalvar aortic stenosis (40%, 4\/10), ventricular septal defect (30%, 3\/10), aortic coarctation (20%, 2\/10), and peripheral pulmonary artery stenosis (20%, 2\/10). To the best of our knowledge, this is the first largest prenatal study of WBS cases with detailed molecular analysis. Aortic coarctation combined with persistent left superior vena cava and right aortic arch cardiovascular defects were first reported in prenatal WBS cases by our study.<\/jats:p>","DOI":"10.1111\/ahg.12360","type":"journal-article","created":{"date-parts":[[2019,11,12]],"date-time":"2019-11-12T00:59:32Z","timestamp":1573520372000},"page":"169-176","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Intrauterine phenotype features of fetuses with Williams\u2013Beuren syndrome and literature review"],"prefix":"10.1111","volume":"84","author":[{"given":"Meizhen","family":"Yuan","sequence":"first","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linbei","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luming","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital Tongji University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12818"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.5.389"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1127815"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2017.12.005"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0153182"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000664"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2009.10.069"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.08.042"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.2.442"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00866.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.285"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4002"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2003.08.038"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/501073"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/AC.67.6.2184667"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.05.005"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1001965"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12278"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4797"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4303"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-5-57"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2017.1379040"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2020"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2263"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1021"},{"key":"e_1_2_8_28_1","first-page":"1267","article-title":"Genetic and prenatal diagnosis for four families with Williams\u2013Beuren syndrome","volume":"17","author":"Liu Y.","year":"2015","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.48"},{"key":"e_1_2_8_30_1","doi-asserted-by":"crossref","first-page":"e00895","DOI":"10.1002\/brb3.895","article-title":"Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams\u2013Beuren syndrome and autism spectrum disorder","volume":"8","author":"Martin L. 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