{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T02:53:52Z","timestamp":1790909632762,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100013093","name":"Science and Technology Planning Project of Shenzen Municipality","doi-asserted-by":"publisher","award":["JCYJ20220530162412029"],"award-info":[{"award-number":["JCYJ20220530162412029"]}],"id":[{"id":"10.13039\/501100013093","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study conducted a comparative analysis of chromosomal karyotyping, SNP\u2010array, and FISH results in 82 prenatal cases of mosaicism involving the sex chromosomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective analysis was conducted on 82 cases of mosaicism involving the sex chromosomes; the analysis focused on the concordance and discrepancies among karyotyping, SNP\u2010array, and FISH results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 10,825 high\u2010risk pregnancies undergoing amniocentesis, 82 cases (0.76%) of mosaicism involving the sex chromosomes were detected. These included 60 cases (73.2%) of X or Y chromosome aneuploidy mosaicism and 22 cases (26.8%) with mosaicism accompanied by structural abnormalities. Of the 82 cases, 64 showed consistent results across karyotyping, SNP\u2010array, and FISH, while 18 cases exhibited discrepancies between methods. Among the 18 discordant cases, 12 were diagnosed as mosaicism by karyotyping and FISH but showed normal results on SNP\u2010array. SNP\u2010array identified three additional cases of mosaic X chromosome copy number variations (CNVs). In three cases, Turner mosaicism was diagnosed solely by FISH; both karyotype and SNP\u2010array findings were normal.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study demonstrates that the combination of SNP\u2010array, karyotyping, and FISH can effectively diagnose mosaicism involving the sex chromosomes. Karyotype analysis can effectively identify aneuploidy and balanced translocation mosaicism when X chromosome dosage shows no significant change, whereas SNP array is more effective in detecting mosaic copy number variations &lt;\u00a010 Mb. In cases of discrepant results between the two methods, FISH should be utilized for further verification.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70160","type":"journal-article","created":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T01:00:35Z","timestamp":1776474035000},"page":"1232-1242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["How Are SNP\u2010Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3802-5345","authenticated-orcid":false,"given":"Xiaojin","family":"Luo","sequence":"first","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyan","family":"Niu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohang","family":"Chen","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Zhou","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyi","family":"Cong","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangwu","family":"Li","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Pei","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College)  Shenzhen China"},{"name":"Longgang District Maternal and Child Health and Intelligent Precision Medicine Laboratory  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Chang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Female Fertility Promotion Center for Reproductive Medicine Department of Obstetrics and Gynecology Peking University Third Hospital  Beijing China"},{"name":"National Clinical Research Center for Obstetrics and Gynecology Peking University Third Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqiang","family":"Liu","sequence":"additional","affiliation":[{"name":"The Genetics Laboratory Longgang District Maternity &amp; 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