{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:53:17Z","timestamp":1791136397947,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T00:00:00Z","timestamp":1791072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T00:00:00Z","timestamp":1791072000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100016804","name":"Natural Science Foundation of Shenzhen Municipality","doi-asserted-by":"publisher","award":["JCYJ20230807141908017"],"award-info":[{"award-number":["JCYJ20230807141908017"]}],"id":[{"id":"10.13039\/100016804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016804","name":"Natural Science Foundation of Shenzhen Municipality","doi-asserted-by":"publisher","award":["JCYJ20250604145756074"],"award-info":[{"award-number":["JCYJ20250604145756074"]}],"id":[{"id":"10.13039\/100016804","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the performance of low\u2010depth non\u2010invasive prenatal testing (NIPT) using cell\u2010free DNA enrichment for detecting fetal copy number variations (CNVs) and to assess its clinical utility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective analysis was conducted on 86,012 pregnant women who underwent NIPT with size\u2010selective cell\u2010free DNA enrichment. CNVs were detected using a Hidden Markov Model. Following prenatal diagnosis of positive cases through chromosome microarray analysis (CMA), positive predictive values (PPVs) were evaluated across different CNV sizes and fetal fractions, and the accuracy of CNV breakpoint validation was assessed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>DNA enrichment achieved a mean fetal fraction of 18.88%\u00a0\u00b1\u00a05.82%. A total of 340 CNVs were detected in 339 pregnant women, with an overall CNV positive rate of 0.39% [95% CI: 0.35%, 0.44%] (339\/86, 012), including 249 deletions and 91 duplications. The total PPV for CNVs was 59.20% [95% CI: 52.05%, 66.00%] (119\/201). For the accuracy of CNV size and position, 85.83% [95% CI: 78.01%, 91.29%] (103\/120) of CNVs had size discrepancies &lt;\u00a025% compared to CMA, and 80.42% [95% CI: 74.71%, 85.13%] (193\/240) of breakpoints were within 1 Mb. The 22q11.21 deletion was the most frequent CNV (16.76% [95% CI: 13.04%, 21.26%] (57\/340)), with a PPV of 40.00% [95% CI: 25.28%, 56.61%] (16\/40).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>An elevated fetal fraction improves breakpoint accuracy. In addition to increasing sequencing depth, it represents a promising technical approach to optimizing the performance of NIPT.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70262","type":"journal-article","created":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T17:15:41Z","timestamp":1791134141000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Performance Evaluation of Size\u2010Selective Placental Cell\u2010Free DNA Enrichment for Non\u2010Invasive Prenatal Testing of Fetal Copy Number Variants"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5802-705X","authenticated-orcid":false,"given":"Xiaoyi","family":"Liu","sequence":"first","affiliation":[{"name":"Central Laboratory Longgang District Maternity &amp; Child Healthcare Hospital (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College)  Shenzhen Guangdong 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