{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:32:55Z","timestamp":1791261175981,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T00:00:00Z","timestamp":1656374400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T00:00:00Z","timestamp":1656374400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81771594"],"award-info":[{"award-number":["81771594"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81873836"],"award-info":[{"award-number":["81873836"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81801461"],"award-info":[{"award-number":["81801461"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the sub-project of the National Key R&D Program","award":["2021YFC2701002"],"award-info":[{"award-number":["2021YFC2701002"]}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"crossref","award":["2019A1515012034"],"award-info":[{"award-number":["2019A1515012034"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"crossref"}]},{"name":"science and technology planning project of Guangdong Province, China","award":["2016A020218003"],"award-info":[{"award-number":["2016A020218003"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["201607010341"],"award-info":[{"award-number":["201607010341"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07\u00a0Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-022-00604-2","type":"journal-article","created":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T09:02:59Z","timestamp":1656406979000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis"],"prefix":"10.1186","volume":"15","author":[{"given":"Ruibin","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingying","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingsi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lushan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangyi","family":"Jing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongling","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fucheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongzhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,28]]},"reference":[{"key":"604_CR1","doi-asserted-by":"publisher","unstructured":"ISCN 2020: An International System for Human Cytogenomic Nomenclature (2020)[S]. McGowan-Jordan J, Ros JH, Sarah M, eds. Basel: Karger, 2020; also in Cytogenet Genome Res, 2020, 160:341\u2013503. https:\/\/doi.org\/10.1159\/isbn.978-3-318-06867-2","DOI":"10.1159\/isbn.978-3-318-06867-2"},{"issue":"5","key":"604_CR2","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<356::AID-AJMG2>3.0.CO;2-X","volume":"83","author":"K Broder","year":"1999","unstructured":"Broder K, Reinhardt E, Ahern J, Lifton R, Tamborlane W, Pober B. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet. 1999;83(5):356\u201360.","journal-title":"Am J Med Genet"},{"issue":"4","key":"604_CR3","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1177\/000992289903800401","volume":"38","author":"A Lashkari","year":"1999","unstructured":"Lashkari A, Smith AK, Graham JJ. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila). 1999;38(4):189\u2013208.","journal-title":"Clin Pediatr (Phila)"},{"issue":"3","key":"604_CR4","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1056\/NEJMra0903074","volume":"362","author":"BR Pober","year":"2010","unstructured":"Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362(3):239\u201352.","journal-title":"N Engl J Med"},{"issue":"5","key":"604_CR5","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1097\/MOP.0000000000000664","volume":"30","author":"RN Collins","year":"2018","unstructured":"Collins RN. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr. 2018;30(5):609\u201315.","journal-title":"Curr Opin Pediatr"},{"issue":"3","key":"604_CR6","doi-asserted-by":"publisher","first-page":"225","DOI":"10.24953\/turkjped.2017.03.001","volume":"59","author":"SM Yuan","year":"2017","unstructured":"Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr. 2017;59(3):225\u201332.","journal-title":"Turk J Pediatr"},{"issue":"2","key":"604_CR7","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/S0022-3476(88)80272-5","volume":"113","author":"CA Morris","year":"1988","unstructured":"Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113(2):318\u201326.","journal-title":"J Pediatr"},{"issue":"6","key":"604_CR8","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1111\/ahg.12278","volume":"82","author":"M Ghaffari","year":"2018","unstructured":"Ghaffari M, Tahmasebi BM, Kariminejad R, Saberi A. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome. Ann Hum Genet. 2018;82(6):469\u201376.","journal-title":"Ann Hum Genet"},{"issue":"5","key":"604_CR9","doi-asserted-by":"publisher","first-page":"e108","DOI":"10.1097\/AOG.0000000000001405","volume":"127","author":"Practice Bulletin No","year":"2016","unstructured":"Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108\u201322.","journal-title":"Obstet Gynecol"},{"issue":"2","key":"604_CR10","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1111\/ahg.12360","volume":"84","author":"M Yuan","year":"2020","unstructured":"Yuan M, Deng L, Yang Y, Sun L. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Ann Hum Genet. 2020;84(2):169\u201376.","journal-title":"Ann Hum Genet"},{"issue":"7","key":"604_CR11","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1177\/1933719118804416","volume":"26","author":"C Li","year":"2019","unstructured":"Li C, Chen B, Zheng J, Cheng L, Song T, Guo F, et al. Prenatal diagnosis of BACs-on-beads assay in 3647 cases of amniotic fluid cells. Reprod Sci. 2019;26(7):1005\u201312.","journal-title":"Reprod Sci"},{"issue":"5","key":"604_CR12","first-page":"495","volume":"36","author":"N Xi","year":"2019","unstructured":"Xi N, Zhang Z, Wang X, Sun L, Song X, Li S, et al. Prenatal diagnosis for a pregnant woman affected with Williams-Beuren syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36(5):495\u20137.","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"issue":"11","key":"604_CR13","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1038\/s41372-018-0221-9","volume":"38","author":"S Srinivasan","year":"2018","unstructured":"Srinivasan S, Howley LW, Cuneo BF, Chatfield KC. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy. J Perinatol. 2018;38(11):1453\u20136.","journal-title":"J Perinatol"},{"issue":"3","key":"604_CR14","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1159\/000452217","volume":"42","author":"A Borrell","year":"2017","unstructured":"Borrell A, Grande M, Meler E, Sabri\u00e0 J, Mazarico E, Mu\u00f1oz A, et al. Genomic microarray in fetuses with early growth restriction: a multicenter study. Fetal Diagn Ther. 2017;42(3):174\u201380.","journal-title":"Fetal Diagn Ther"},{"issue":"6","key":"604_CR15","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1080\/15513815.2017.1379040","volume":"36","author":"AJ Kobalka","year":"2017","unstructured":"Kobalka AJ, Mrak RE, Gunning WT. A case report of in utero Williams syndrome arterial malformation. Fetal Pediatr Pathol. 2017;36(6):452\u20136.","journal-title":"Fetal Pediatr Pathol"},{"issue":"7","key":"604_CR16","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1002\/pd.4844","volume":"36","author":"H Zhu","year":"2016","unstructured":"Zhu H, Lin S, Huang L, He Z, Huang X, Zhou Y, et al. Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction. Prenat Diagn. 2016;36(7):686\u201392.","journal-title":"Prenat Diagn"},{"issue":"12","key":"604_CR17","first-page":"1267","volume":"17","author":"Y Liu","year":"2015","unstructured":"Liu Y, Xu ZY, Wu WQ, Luo FW, Xie JS. Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome. Zhongguo Dang Dai Er Ke Za Zhi. 2015;17(12):1267\u201372.","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"issue":"2","key":"604_CR18","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/ccr3.48","volume":"2","author":"L Marcato","year":"2014","unstructured":"Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome. Clin Case Rep. 2014;2(2):25\u201332.","journal-title":"Clin Case Rep"},{"issue":"4","key":"604_CR19","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/pd.2861","volume":"32","author":"N Gruchy","year":"2012","unstructured":"Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, et al. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA. Prenat Diagn. 2012;32(4):383\u20138.","journal-title":"Prenat Diagn"},{"issue":"6","key":"604_CR20","doi-asserted-by":"publisher","first-page":"e6","DOI":"10.1016\/j.ajog.2011.09.017","volume":"205","author":"T Popowski","year":"2011","unstructured":"Popowski T, Vialard F, Leroy B, Bault JP, Molina-Gomes D. Williams-Beuren syndrome: the prenatal phenotype. Am J Obstet Gynecol. 2011;205(6):e6-8.","journal-title":"Am J Obstet Gynecol"},{"issue":"7","key":"604_CR21","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1002\/pd.2263","volume":"29","author":"D Krzeminska","year":"2009","unstructured":"Krzeminska D, Steinfeld C, Cloez J, Vibert M, Chery M, Menzies D, et al. Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenatal Diagn. 2009;29(7):710\u20132.","journal-title":"Prenatal Diagn"},{"issue":"6","key":"604_CR22","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1002\/pd.2020","volume":"28","author":"H Kontos","year":"2008","unstructured":"Kontos H, Manolakos E, Malligiannis P, Plachouras N, Ploumis N, Mihalatos M, et al. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenat Diagn. 2008;28(6):556\u20138.","journal-title":"Prenat Diagn"},{"issue":"4","key":"604_CR23","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R","volume":"90","author":"P von Dadelszen","year":"2000","unstructured":"von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, et al. De novo 46, XX, t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am J Med Genet. 2000;90(4):270\u20135.","journal-title":"Am J Med Genet"},{"key":"604_CR24","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.ejogrb.2018.03.047","volume":"225","author":"L Zhen","year":"2018","unstructured":"Zhen L, Fan SS, Huang LY, Pan M, Han J, Yang X, et al. Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and molecular karyotyping results. Eur J Obstet Gynecol Reprod Biol. 2018;225:19\u201321.","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"issue":"7","key":"604_CR25","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1007\/s00018-008-8401-y","volume":"66","author":"C Schubert","year":"2009","unstructured":"Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci. 2009;66(7):1178\u201397.","journal-title":"Cell Mol Life Sci"},{"issue":"5","key":"604_CR26","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.1172\/JCI35309","volume":"118","author":"BR Pober","year":"2008","unstructured":"Pober BR, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest. 2008;118(5):1606\u201315.","journal-title":"J Clin Invest"},{"issue":"2","key":"604_CR27","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1242\/dev.00223","volume":"130","author":"SK Karnik","year":"2003","unstructured":"Karnik SK, Brooke BS, Bayes-Genis A, Sorensen L, Wythe JD, Schwartz RS, et al. A critical role for elastin signaling in vascular morphogenesis and disease. Development. 2003;130(2):411\u201323.","journal-title":"Development"},{"issue":"11","key":"604_CR28","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1007\/s00467-002-0889-z","volume":"17","author":"C Sforzini","year":"2002","unstructured":"Sforzini C, Milani D, Fossali E, Barbato A, Grumieri G, Bianchetti MG, et al. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol. 2002;17(11):899\u2013902.","journal-title":"Pediatr Nephrol"},{"issue":"1","key":"604_CR29","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<301::AID-AJMG49>3.0.CO;2-P","volume":"63","author":"R Pankau","year":"1996","unstructured":"Pankau R, Partsch CJ, Winter M, Gosch A, Wessel A. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet. 1996;63(1):301\u20134.","journal-title":"Am J Med Genet"},{"issue":"1","key":"604_CR30","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s00439-010-0827-2","volume":"128","author":"G Merla","year":"2010","unstructured":"Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010;128(1):3\u201326.","journal-title":"Hum Genet"},{"issue":"1","key":"604_CR31","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/ajmg.a.30865","volume":"137","author":"CJ Partsch","year":"2005","unstructured":"Partsch CJ, Siebert R, Caliebe A, Gosch A, Wessel A, Pankau R. Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome. Am J Med Genet A. 2005;137(1):52\u20134.","journal-title":"Am J Med Genet A"}],"container-title":["Molecular Cytogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-022-00604-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13039-022-00604-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13039-022-00604-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,28]],"date-time":"2022-06-28T09:06:35Z","timestamp":1656407195000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularcytogenetics.biomedcentral.com\/articles\/10.1186\/s13039-022-00604-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,28]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["604"],"URL":"https:\/\/doi.org\/10.1186\/s13039-022-00604-2","relation":{},"ISSN":["1755-8166"],"issn-type":[{"value":"1755-8166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,28]]},"assertion":[{"value":"28 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was a retrospective one approved by our institutional review board\/ethics committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"27"}}