{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T13:45:12Z","timestamp":1777038312272,"version":"3.51.4"},"reference-count":114,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T00:00:00Z","timestamp":1747958400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BJOG"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the feasibility and effectiveness of medium\u2010coverage whole genome sequencing (CMA\u2010seq) for prenatal diagnosis of foetal structural anomalies, and to compare its performance with conventional chromosomal microarray analysis (CMA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>A prospective clinical study combined with a systematic meta\u2010analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>A tertiary maternal and child health hospital in Chongqing, China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Population or Sample<\/jats:title><jats:p>3973 pregnant women with ultrasound\u2010detected foetal structural anomalies or other high\u2010risk indications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Specimens were collected through amniocentesis, followed by CMA\u2010seq to identify a wide range of chromosomal abnormalities. Meta\u2010analysis was used to study the application and effectiveness of CMA in prenatal diagnosis. Clinical studies were screened in Chinese and English databases, and a meta\u2010analysis was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures<\/jats:title><jats:p>Detection rates for chromosomal abnormalities, including mosaic aneuploidy, small copy number variants (CNVs\u2009&lt;\u2009100\u2009kb) and absence of heterozygosity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>CMA\u2010seq identified chromosomal abnormalities in 24.72% (982\/3973) of cases. Mosaic aneuploidy was detected in 6.5% of samples (42 cases &lt;\u200930% mosaicism). A total of 670 cases were presented with CNVs, including 40 below 100\u2009kb. AOH was found in 112 cases (2.82%). The meta\u2010analysis indicated a lower pooled chimeric chromosome detection rate (1.10%), a smaller proportion of CNVs &lt;\u2009500\u2009kb (2.06%), and reduced AOH detection (1.26%) with conventional CMA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>CMA\u2010seq exhibits significant advancements and superior sensitivity in detecting low\u2010level mosaic aneuploidy, small segment CNVs and AOH.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1471-0528.18222","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T06:28:42Z","timestamp":1747981722000},"page":"1489-1501","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal Diagnosis of Foetal Structural Anomalies Using Medium\u2010Coverage Whole Genome Sequencing (<scp>CMA<\/scp>\u2010Seq): A Large\u2010Scale Comparative Study With <scp>CMA<\/scp> in 3973 Pregnancies"],"prefix":"10.1111","volume":"132","author":[{"given":"Yan","family":"Jiang","sequence":"first","affiliation":[{"name":"Chongqing Health Centre for Women and Children\/Women and Children's Hospital of Chongqing Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Liu","sequence":"additional","affiliation":[{"name":"Chongqing Health Centre for Women and Children\/Women and Children's Hospital of Chongqing Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Zhong","sequence":"additional","affiliation":[{"name":"Chongqing Health Centre for Women and Children\/Women and Children's Hospital of Chongqing Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Zhong","sequence":"additional","affiliation":[{"name":"Chongqing Health Centre for Women and Children\/Women and Children's Hospital 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