{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T11:48:37Z","timestamp":1790596117845,"version":"4.1.0"},"reference-count":39,"publisher":"PeerJ","license":[{"start":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T00:00:00Z","timestamp":1670198400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Maternal and Child Health Talents of Jiangsu Province, China","award":["F201944"],"award-info":[{"award-number":["F201944"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according to different risk indicators. Karyotyping and CNV-seq were performed simultaneously to compare the diagnostic performance of the two methods.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the different amniocentesis indicators, abnormal fetal ultrasounds accounted for 39.29% of the total number of examinees and made up the largest group. The abnormal detection rate of non-invasive prenatal testing (NIPT) high risk was 37.93% and significantly higher than the other five groups (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0&lt;\u00a00.05). The abnormal detection rate of mixed indicators was significantly higher than the history of the adverse reproductive outcomes group (\n                      <jats:italic>P<\/jats:italic>\n                      = 0.0151). The two methods combined found a total of 119 abnormal cases (14.48%). Karyotyping detected 57 cases (6.93%) of abnormal karyotypes, 30 numerical aberrations, and 27 structural aberrations. CNV-seq identified 99 cases (12.04%) with altered CNVs, 30 cases of chromosome aneuploidies, and 69 structural aberrations (28 pathogenic, eight that were likely pathogenic, and 33 microdeletion\/duplication variants of uncertain significance (VUS)). Thirty-seven cases were found abnormal by both methods, 20 cases were detected abnormally by karyotyping (mainly mutual translocation and mostly balanced), and 62 cases of microdeletion\/duplication were detected by CNV-seq. Steroid sulfatase gene (STS) deletion was identified at chromosome Xp22.31 in three cases. Postnatal follow-up confirmed that babies manifested skin abnormalities one week after birth. Six fetuses had Xp22.31 duplications ranging from 1.5 Kb to 1.7 Mb that were detected by CNV-seq. Follow-up showed that five babies presented no abnormalities during follow-up, except for one terminated pregnancy due to a history of adverse reproductive outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The combination of using CNV-seq and karyotyping significantly improved the detection rate of fetal pathogenic chromosomal abnormalities. CNV-seq is an effective complement to karyotyping and improves the accuracy of prenatal diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.7717\/peerj.14400","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T04:07:55Z","timestamp":1670213275000},"page":"e14400","source":"Crossref","is-referenced-by-count":13,"title":["Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis"],"prefix":"10.7717","volume":"10","author":[{"given":"Suhua","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Clinical Medical College of Yangzhou University, Northern Jiangsu People\u2019s Hospital, Yang Zhou, Jiangsu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuexin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Clinical Medical College of Yangzhou University, Northern Jiangsu People\u2019s Hospital, Yang Zhou, Jiangsu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Clinical Medical College of Yangzhou University, Northern Jiangsu People\u2019s Hospital, Yang Zhou, Jiangsu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, Clinical Medical College of Yangzhou University, Northern Jiangsu People\u2019s Hospital, Yang Zhou, Jiangsu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Medical Research Center, Clinical Medical College of Yangzhou University, Northern Jiangsu People\u2019s Hospital, Yang Zhou, Jiangsu Province, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4443","published-online":{"date-parts":[[2022,12,5]]},"reference":[{"key":"10.7717\/peerj.14400\/ref-1","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1002\/pd.4209","article-title":"The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature","volume":"33","author":"Callaway","year":"2013","journal-title":"Prenatal Diagnosis"},{"key":"10.7717\/peerj.14400\/ref-2","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1002\/ajmg.c.31697","article-title":"Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong","volume":"181","author":"Cheng","year":"2019","journal-title":"American Journal of Medical Genetics Part C"},{"key":"10.7717\/peerj.14400\/ref-3","doi-asserted-by":"publisher","first-page":"293","DOI":"10.3760\/cma.j.issn.1003-9406.2019.04.001","article-title":"Expert consensus on the application of low-depth whole genome sequencing in prenatal diagnosis","volume":"36","author":"Clinical Genetics Group Of Medical Genetics Branch Chinese Medical A, Professional Committee For Prenatal Diagnosis Of Genetic Diseases Medical Genetics Branch Of Chinese Medical A, Group Of Genetic Disease P, Control Birth Defect P, Control Committee Of Chinese Society Of Preventive M","year":"2019","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.7717\/peerj.14400\/ref-4","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1002\/uog.14767","article-title":"Diagnosis of fetal submicroscopic chromosomal abnormalities in failed array CGH samples: copy number by sequencing as an alternative to microarrays for invasive fetal testing","volume":"45","author":"Cohen","year":"2015","journal-title":"Ultrasound in Obstetrics & Gynecology"},{"key":"10.7717\/peerj.14400\/ref-5","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1038\/gim.2015.199","article-title":"Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach","volume":"18","author":"Dong","year":"2016","journal-title":"Genetics in Medicine"},{"key":"10.7717\/peerj.14400\/ref-6","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.ajog.2016.04.029","article-title":"Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor","volume":"215","author":"Evans","year":"2016","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"10.7717\/peerj.14400\/ref-7","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1002\/ajmg.a.34398","article-title":"Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? 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