{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:00:13Z","timestamp":1791388813128,"version":"4.3.3"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,12,22]],"date-time":"2016-12-22T00:00:00Z","timestamp":1482364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81300495"],"award-info":[{"award-number":["81300495"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","award":["H201343"],"award-info":[{"award-number":["H201343"]}],"id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health","doi-asserted-by":"publisher","award":["F201314"],"award-info":[{"award-number":["F201314"]}],"id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>Chromosomal microarray analysis (<jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content>) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> for genetic diagnosis of first\u2010trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using single\u2010nucleotide polymorphism (SNP) array. Among the specimens, 2.9% (16\/551) had significant maternal cell contamination and were excluded from the study. Clinically significant chromosomal abnormalities were identified in 295 (55.1%) cases, including 214 (40%) with aneuploidy, 40 (7.5%) with polyploidy, 19 (3.6%) with partial aneuploidy, 12 (2.2%) with pathogenic microdeletion\/microduplication, and 10 (1.9%) with uniparental isodisomy (<jats:styled-content style=\"fixed-case\">isoUPD<\/jats:styled-content>). Variants of uncertain significance were obtained in 15 cases (2.8%). Notably, <jats:styled-content style=\"fixed-case\">isoUPD<\/jats:styled-content> involving a single chromosome (chromosome 22) and two recurrent copy number variations, 22q11.2 microdeletion and 7q11.23 microdeletion, were identified as probably to be associated with miscarriage. The frequency and distribution of genetic aberrations in the spontaneous abortion group was not significantly different from those in the recurrent miscarriage group. Our study suggests <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array is a reliable, robust, and high\u2010resolution technology for genetic diagnosis of miscarriage in clinical practice.<\/jats:p>","DOI":"10.1111\/cge.12926","type":"journal-article","created":{"date-parts":[[2016,11,24]],"date-time":"2016-11-24T16:12:18Z","timestamp":1480003938000},"page":"849-858","source":"Crossref","is-referenced-by-count":71,"title":["Clinical application of <scp>SNP<\/scp> array analysis in first\u2010trimester pregnancy loss: a prospective study"],"prefix":"10.1111","volume":"91","author":[{"given":"Y.","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine Department of Prenatal Diagnosis  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Q.","family":"Cheng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Department of Obstetrics Obstetrics and 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