{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T19:04:43Z","timestamp":1775588683905,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,21]],"date-time":"2021-03-21T00:00:00Z","timestamp":1616284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The present study aimed to explore the etiological relationship between fetal abnormalities and copy number variations (CNVs) with the aim of intervening and preventing the birth of children with birth defects in time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Samples of 913 fetuses with puncture indications were collected from January 2017 to December 2019. Karyotype analysis and CNV sequencing (CNV\u2010seq) testing was performed for fetuses with ultrasonic abnormalities, a high risk of Down\u2019s syndrome and an adverse birth history. All cases were followed up.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, 123 cases (13.47%) had abnormal karyotypes, including 109 cases with chromosome number abnormalities and 14 cases of chromosomal structural abnormalities. Thirty\u2010seven (4.05%) cases with pathogenic CNVs were detected. The detection rate of pathogenicity CNVs was 12.82% for mixed indications, followed by 7.5% for an adverse birth history, 5.88% at high risk of non\u2010invasive prenatal testing, 5.00% with an abnormal ultrasonic marker, 1.89% at high risk of screening for Down's syndrome and 1.45% with advanced maternal age. There were 12 (1.31%) cases with microduplications and 25 (2.74%) cases with microdeletions. Trisomy 21 (39.02%), trisomy 18 (13.82%) and Turner syndrome (9.76%) were the top three chromosome abnormalities. There were 104, 746 and 63 cases in the 11\u201313\u2009weeks, 14\u201327\u2009weeks 28\u201338\u2009weeks gestational ages, respectively. The abnormal rates of fetal chromosome aneuploidy and the rate of pathogenic CNVs were decreased and increased with the increase of gestational age (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05), respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Compared with karyotype analysis, CNV\u2010seq can improve the detection rate of chromosomal abnormalities. CNV\u2010seq combined karyotype analysis should be performed simultaneously in fetuses with puncture indications.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3324","type":"journal-article","created":{"date-parts":[[2021,2,22]],"date-time":"2021-02-22T03:51:51Z","timestamp":1613965911000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing"],"prefix":"10.1002","volume":"23","author":[{"given":"Liubing","family":"Lan","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Meizhou People's Hospital (Huangtang Hospital) Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou China"},{"name":"Department of Obstetrics, Meizhou People's Hospital (Huangtang Hospital) Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingna","family":"She","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center, Meizhou People's Hospital (Huangtang Hospital) Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou China"},{"name":"Ultrasonic Department, Meizhou People's Hospital (Huangtang Hospital) Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou China"},{"name":"Guangdong Provincial Key Laboratory of Precision Medicine and Clinical Translational Research of Hakka Population, Meizhou People's Hospital (Huangtang Hospital), Meizhou Academy of Medical Sciences Meizhou Hospital Affiliated to Sun Yat\u2010sen University  Meizhou 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