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In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: \u201cprenatal diagnosis,\u201d \u201cCNV\u2010seq,\u201d \u201ckaryotyping,\u201d published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight studies were included in this systemic review and meta\u2010analysis, including 11\u2009091 pregnant women with high\u2010risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV\u2010seq detected a 2% (95% CI, \u22120% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%\u20136%) pooled mean incremental yield of pathogenic CNVs by CNV\u2010seq over karyotyping was observed, with a 1%\u201316% range.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>CNV\u2010seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV\u2010seq has high application value in prenatal diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jog.15652","type":"journal-article","created":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T23:12:32Z","timestamp":1681168352000},"page":"1641-1650","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Additional diagnostic value of <scp>CNV<\/scp>\u2010seq over conventional karyotyping in prenatal diagnosis: A systematic review and meta\u2010analysis"],"prefix":"10.1111","volume":"49","author":[{"given":"Heng","family":"Luo","sequence":"first","affiliation":[{"name":"Clinical Medical College Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Wang","sequence":"additional","affiliation":[{"name":"Clinical Medical College Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Fu","sequence":"additional","affiliation":[{"name":"Clinical Medical College Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Gao","sequence":"additional","affiliation":[{"name":"Clinical Medical College Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7565-5621","authenticated-orcid":false,"given":"Dan","family":"Lu","sequence":"additional","affiliation":[{"name":"Clinical Medical College Yangzhou University  Yangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.10.1233"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2017-017963"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2014.05.002"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1000097"},{"key":"e_1_2_10_6_1","unstructured":"RyanR SynnotA PrictorM.Cochrane consumers and communication group. 2016."},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-155-8-201110180-00009"},{"key":"e_1_2_10_8_1","unstructured":"Cochrane CollaborationReview Manager (RevMan). 5.4 V editor. 2020."},{"key":"e_1_2_10_9_1","doi-asserted-by":"crossref","DOI":"10.1002\/9780470743386","volume-title":"Introduction to meta\u2010analysis","author":"Borenstein M","year":"2009"},{"key":"e_1_2_10_10_1","volume-title":"Cochrane handbook for systematic reviews of interventions","author":"Sterne JA","year":"2017"},{"key":"e_1_2_10_11_1","unstructured":"Trial Sequential Analysis Viewer (TSA Viewer).[Computer program]. 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