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China","award":["201607010341"],"award-info":[{"award-number":["201607010341"]}]},{"name":"science and technology planning project of Guangdong Province, China","award":["IP-2019-008"],"award-info":[{"award-number":["IP-2019-008"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["2021YFC2701002"],"award-info":[{"award-number":["2021YFC2701002"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["81801461"],"award-info":[{"award-number":["81801461"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["81873836"],"award-info":[{"award-number":["81873836"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["81771594"],"award-info":[{"award-number":["81771594"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["2019A1515012034"],"award-info":[{"award-number":["2019A1515012034"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["2016A020218003"],"award-info":[{"award-number":["2016A020218003"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["201607010341"],"award-info":[{"award-number":["201607010341"]}]},{"name":"Science and Technology Program of Guangzhou China","award":["IP-2019-008"],"award-info":[{"award-number":["IP-2019-008"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["2021YFC2701002"],"award-info":[{"award-number":["2021YFC2701002"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["81801461"],"award-info":[{"award-number":["81801461"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["81873836"],"award-info":[{"award-number":["81873836"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["81771594"],"award-info":[{"award-number":["81771594"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["2019A1515012034"],"award-info":[{"award-number":["2019A1515012034"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["2016A020218003"],"award-info":[{"award-number":["2016A020218003"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["201607010341"],"award-info":[{"award-number":["201607010341"]}]},{"name":"Guangzhou Institute of Pediatrics\/Guangzhou Women and Children\u2019s Medical Center","award":["IP-2019-008"],"award-info":[{"award-number":["IP-2019-008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype\/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10\/37, 27.0% vs. 6\/111, 5.4%, P &lt; 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE.<\/jats:p>","DOI":"10.3390\/genes13091573","type":"journal-article","created":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T21:27:17Z","timestamp":1662067637000},"page":"1573","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8929-7805","authenticated-orcid":false,"given":"Ruibin","family":"Huang","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1233-5065","authenticated-orcid":false,"given":"Hang","family":"Zhou","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4011-9199","authenticated-orcid":false,"given":"Ken","family":"Cheng","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"},{"name":"School of Medicine, South China University of Technology, Guangzhou 510641, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"You","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"},{"name":"The First Clinical Medical College, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunling","family":"Ma","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"},{"name":"The First Clinical Medical College, Southern Medical University, Guangzhou 510515, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangyi","family":"Jing","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Han","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510620, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"270","DOI":"10.4274\/tjod.galenos.2020.60669","article-title":"The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center","volume":"17","author":"Sucu","year":"2020","journal-title":"Turk. 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Orthop."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/9\/1573\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:22:04Z","timestamp":1760142124000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/9\/1573"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,1]]},"references-count":30,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,9]]}},"alternative-id":["genes13091573"],"URL":"https:\/\/doi.org\/10.3390\/genes13091573","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,1]]}}}