{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T09:56:46Z","timestamp":1753869406817,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T00:00:00Z","timestamp":1548028800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1000700","2016YFC1000703"],"award-info":[{"award-number":["2016YFC1000700","2016YFC1000703"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Research and the development of non-invasive prenatal screening and diagnostic technology platform for single gene and genomic diseases"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Non\u2010invasive prenatal testing (<jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>) is extensively used in the detection of fetal trisomies 21, 18, and 13, which is promptly becoming a common clinical practice. Concerned about the clinical application of non\u2010invasive detection of the fetal autosomal duplications or deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>A 34\u2010year\u2010old, healthy pregnant woman was referred to the First Affiliated Hospital of the Air Force Medical University. The ultrasound examination indicates that low\u2010lying placenta, the fetus has a left ventricular bright spot and small amount of pericardial effusion. <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> was chosen to further screen for fetal chromosomal abnormalities. <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> results indicated an approximately 18\u00a0Mb deletion, which was verified by prenatal diagnosis. The chromosome microarray analysis (CMA) result showed about 19.2\u00a0Mb deletions in 21q11.2\u2010q22.11. The karyotype analysis result showed 46,<jats:styled-content style=\"fixed-case\">XN<\/jats:styled-content>,del(21)(q11.2q22.1). Prenatal diagnosis was consistent with <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> results, and the paternal karyotype revealed no obvious abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we successfully detected and diagnosed deletions of large fragments in chromosome 21 in a fetus using <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>. This indicates that <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> can provide effective genetic information for detecting fetal subchromosomal deletions\/duplications.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22711","type":"journal-article","created":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T09:57:46Z","timestamp":1548151066000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Detection of 21q11.2\u2010q22.11 deletions in a fetus by NIPT"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9635-7458","authenticated-orcid":false,"given":"Yunyun","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital Of Air Force Medical University Xi'an, Shaanxi 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