{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:04:56Z","timestamp":1793153096360,"version":"4.5.0"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T00:00:00Z","timestamp":1755475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"2024 High-quality Development Research Project of Shenzhen Bao'an Public Hospital","award":["BAGZL2024154"],"award-info":[{"award-number":["BAGZL2024154"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82203291"],"award-info":[{"award-number":["82203291"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec001\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Genome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for detecting fetal aneuploidy and copy number variation (CNV).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The study included 59,877 pregnant women who underwent GW-NIPT at Shenzhen Baoan Women\u2019s and Children\u2019s Hospital, China, from November 2017 to May 2021. NIPT was performed on the BGISEQ-500 platform. Fetal karyotype analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization were used for invasive diagnostic procedures, and postnatal outcomes were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 59,877 pregnant women who underwent GW-NIPT, 59,771 were successfully tested. Of these, 499 (0.83%) were identified with 504 high-risk fetal chromosomal abnormalities, including 5 cases each carrying two distinct abnormalities. Follow-up analysis demonstrated that GW-NIPT sensitivity exceeded 97% for fetal aneuploidies and was 63.6% for CNV (\u22655\u2009Mb). The positive predictive values for T21, T18, T13, sex chromosome aneuploidy, rare autosomal aneuploidy, and CNV (\u22655\u2009Mb) were calculated as 83.1%, 25.8%, 10.3%, 51.9%, 2.0%, and 33.9%, respectively. For confirmed fetal mosaicism, the detection rate of NIPT was 70.6%, which was consistent with that of CMA (70.6%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"sec004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>GW-NIPT has high sensitivity in screening fetal aneuploidy and moderate clinical utility in detecting CNV and fetal mosaicism, demonstrating that GW-NIPT holds significant application value in current and future prenatal screening procedures.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1371\/journal.pone.0329463","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T17:24:13Z","timestamp":1755537853000},"page":"e0329463","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort 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Baranova","year":"2022","journal-title":"BMC Pregnancy Childbirth"},{"issue":"5","key":"pone.0329463.ref008","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/uog.14792","article-title":"Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies","volume":"45","author":"H Zhang","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"4","key":"pone.0329463.ref009","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/uog.17562","article-title":"Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting","volume":"51","author":"CB Miltoft","year":"2018","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"1","key":"pone.0329463.ref010","doi-asserted-by":"crossref","first-page":"7767","DOI":"10.1038\/s41598-019-44018-4","article-title":"Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience 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interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"1","key":"pone.0329463.ref022","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/uog.17286","article-title":"Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities","volume":"50","author":"A Syngelaki","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"1","key":"pone.0329463.ref023","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/s40246-022-00438-4","article-title":"Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis","volume":"16","author":"R Hu","year":"2022","journal-title":"Hum Genomics"},{"issue":"4","key":"pone.0329463.ref024","first-page":"301","article-title":"Temporal and geographic trends in maternal and paternal ages in China from 2016 to 2020","volume":"35","author":"Y Zhou","year":"2024","journal-title":"Chinese J Reproductive Health"},{"issue":"5","key":"pone.0329463.ref025","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0298643","article-title":"The implementation and impact of non-invasive prenatal testing (NIPT) for Down\u2019s syndrome into antenatal screening programmes: A systematic review and meta-analysis","volume":"19","author":"E Sebire","year":"2024","journal-title":"PLoS One"},{"issue":"22","key":"pone.0329463.ref026","doi-asserted-by":"crossref","first-page":"4258","DOI":"10.1080\/14767058.2020.1849102","article-title":"First trimester screening for aneuploidy: may combined test and fetal DNA work together?","volume":"35","author":"S Capriglione","year":"2022","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"7","key":"pone.0329463.ref027","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1016\/j.gim.2022.03.019","article-title":"Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies","volume":"24","author":"NC Rose","year":"2022","journal-title":"Genet Med"},{"issue":"3","key":"pone.0329463.ref028","doi-asserted-by":"crossref","first-page":"809","DOI":"10.3390\/jcm3030809","article-title":"Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis","volume":"3","author":"FR Grati","year":"2014","journal-title":"J Clin Med"},{"issue":"7031","key":"pone.0329463.ref029","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/nature03440","article-title":"The DNA sequence of the human X chromosome","volume":"434","author":"MT Ross","year":"2005","journal-title":"Nature"},{"issue":"5","key":"pone.0329463.ref030","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.tjog.2014.10.009","article-title":"Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing","volume":"54","author":"L Wang","year":"2015","journal-title":"Taiwan J Obstet Gynecol"},{"issue":"7","key":"pone.0329463.ref031","first-page":"461","article-title":"Chorionic villus cell culture and karyotype analysis in 1 983 cases of spontaneous miscarriage","volume":"52","author":"SM Yuan","year":"2017","journal-title":"Zhonghua Fu Chan Ke Za Zhi"},{"issue":"5","key":"pone.0329463.ref032","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1136\/jmg.14.5.313","article-title":"Frequency of chromosomal abnormalities in miscarriages and perinatal deaths","volume":"14","author":"ED Alberman","year":"1977","journal-title":"J Med Genet"},{"issue":"4","key":"pone.0329463.ref033","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/uog.26272","article-title":"Late first-trimester ultrasound findings can alter management after high-risk NIPT result","volume":"62","author":"F Scott","year":"2023","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"6","key":"pone.0329463.ref034","article-title":"Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing","volume":"7","author":"D Yu","year":"2019","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"pone.0329463.ref035","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/pd.5217","article-title":"Clinical experience of laboratory follow-up with noninvasive prenatal testing using cell-free DNA and positive microdeletion results in 349 cases","volume":"38","author":"S Schwartz","year":"2018","journal-title":"Prenat 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