{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T10:26:17Z","timestamp":1788690377022,"version":"build-2803163510"},"reference-count":31,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>Cell-free DNA (cf-DNA) screening for common trisomies has been increasingly assimilated into prenatal care. In this study, we evaluated the Z-score accuracy and the effectiveness of non-invasive prenatal testing (NIPT) for trisomies 21, 18, and 13 using cf-DNA, and further analyze pregnancy outcomes of NIPT-positive pregnant women.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Methods<\/jats:title>\n<jats:p>This retrospective study analyzed pregnancies that yielded positive NIPT results at Shaoxing Maternity and Child Health Care Hospital between 01\/01\/2017 and 31\/12\/2022. Invasive prenatal diagnosis (IPD) confirmed the positive NIPT findings. Logistic regression analysis was applied to correlation analysis of Z-scores and positive predictive value (PPV). Accuracy of Z-score was evaluated through receiver operating characteristic (ROC) curve analysis. Data regarding basic characteristics, prenatal diagnosis results, and pregnancy outcomes were collected.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>In total,257 high-risk cases of trisomy 21, 18, and 13 were identified. Among these,193 pregnancies underwent invasive prenatal diagnosis (IPD) in our institution, the PPV was 75.44% for T21,45.28% for T18, and 17.86% for T13. A significant association between Z-scores and PPVs were revealed by logistic regression(p\u2009&lt;\u20090.05). The ROC curve analysis revealed optimal cutoff values of 7.231 for T21, 5.245 for T18, and 7.504 for T13. The corresponding areas under the curve (AUC) were 0.954, 0.941, and 0.924, respectively. Moreover, the PPV was statistically higher in the very-high-risk (VHR) group than in the general high-risk (GHR) group. In terms of pregnancy outcomes,98.51% (132\/134) of pregnancies identified with chromosomal abnormalities were terminated, whereas 98.89% (89\/90) of those diagnosed with false-positive results were carried to term.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The study demonstrates that the Z-score is valuable in accurately assessing NIPT results. Consequently, clinicians can provide more efficient prenatal genetic counseling by utilizing a specific reference value for the Z-score.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0332081","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T17:37:02Z","timestamp":1759945022000},"page":"e0332081","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation"],"prefix":"10.1371","volume":"20","author":[{"given":"Xiangmei","family":"Sun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyi","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caiping","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4322-3342","authenticated-orcid":true,"given":"Xiaoliang","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,10,8]]},"reference":[{"issue":"4","key":"pone.0332081.ref001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1080\/10408363.2022.2162843","article-title":"Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives","volume":"60","author":"M Tian","year":"2023","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"14","key":"pone.0332081.ref002","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1056\/NEJMcibr2209405","article-title":"Circulating cell-free DNA and screening for trisomies","volume":"387","author":"ME Norton","year":"2022","journal-title":"N Engl J Med"},{"issue":"5","key":"pone.0332081.ref003","doi-asserted-by":"crossref","first-page":"100923","DOI":"10.1016\/j.ajogmf.2023.100923","article-title":"Prenatal next-generation sequencing in the fetus with congenital malformations: how can we improve clinical utility?","volume":"5","author":"MD Kilby","year":"2023","journal-title":"Am J Obstet Gynecol MFM"},{"issue":"12","key":"pone.0332081.ref004","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1007\/s10815-020-01977-2","article-title":"Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China","volume":"37","author":"W Lu","year":"2020","journal-title":"J Assist Reprod Genet"},{"issue":"8","key":"pone.0332081.ref005","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1080\/14737159.2018.1493924","article-title":"Next-generation sequencing and the impact on prenatal diagnosis","volume":"18","author":"R Mellis","year":"2018","journal-title":"Expert Rev Mol Diagn"},{"issue":"6","key":"pone.0332081.ref006","first-page":"578","article-title":"DNA sequencing versus standard prenatal aneuploidy screening","volume":"371","author":"N Vrachnis","year":"2014","journal-title":"N Engl J Med"},{"issue":"10","key":"pone.0332081.ref007","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/gim.2016.97","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"AR Gregg","year":"2016","journal-title":"Genet Med"},{"issue":"4","key":"pone.0332081.ref008","article-title":"Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226","volume":"136","author":"American College of Obstetricians and Gynecologists\u2019 Committee on Practice Bulletins\u2014Obstetrics, Committee on Genetics, Society for Maternal-Fetal Medicine","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"8","key":"pone.0332081.ref009","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1093\/bioinformatics\/bty806","article-title":"Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing","volume":"35","author":"J Budis","year":"2019","journal-title":"Bioinformatics"},{"issue":"8","key":"pone.0332081.ref010","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1080\/14737159.2022.2125803","article-title":"Noninvasive prenatal screening in southeast China: clinical application and accuracy evaluation","volume":"22","author":"L Wen","year":"2022","journal-title":"Expert Rev Mol Diagn"},{"key":"pone.0332081.ref011","doi-asserted-by":"crossref","first-page":"887176","DOI":"10.3389\/fgene.2022.887176","article-title":"Combining Z-score and maternal copy number variation analysis increases the positive rate and accuracy in non-invasive prenatal testing","volume":"13","author":"L Chen","year":"2022","journal-title":"Front Genet"},{"key":"pone.0332081.ref012","doi-asserted-by":"crossref","first-page":"690063","DOI":"10.3389\/fgene.2021.690063","article-title":"The optimal cutoff value of Z-scores enhances the judgment accuracy of noninvasive prenatal screening","volume":"12","author":"L Zhou","year":"2021","journal-title":"Front Genet"},{"issue":"6","key":"pone.0332081.ref013","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1002\/pd.5908","article-title":"Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center","volume":"41","author":"W Junhui","year":"2021","journal-title":"Prenat Diagn"},{"issue":"176","key":"pone.0332081.ref014","doi-asserted-by":"crossref","first-page":"353","DOI":"10.24976\/Discov.Med.202335176.36","article-title":"The clinical application and accuracy evaluation of noninvasive prenatal testing for common trisomy and sex chromosome aneuploidy","volume":"35","author":"Y Wang","year":"2023","journal-title":"Discov Med"},{"issue":"2","key":"pone.0332081.ref015","doi-asserted-by":"crossref","first-page":"2233662","DOI":"10.1080\/14767058.2023.2233662","article-title":"A high Z-score might increase the positive predictive value of cell-free noninvasive prenatal testing for singleton-pregnant women","volume":"36","author":"L Ma","year":"2023","journal-title":"J Matern Fetal Neonatal Med"},{"issue":"8","key":"pone.0332081.ref016","first-page":"891","article-title":"Application of BACs-on-BeadsTM in prenatal diagnosis","volume":"37","author":"Y Zeng","year":"2020","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"pone.0332081.ref017","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1146\/annurev-biodatasci-020722-094144","article-title":"Noninvasive prenatal testing using circulating DNA and RNA: advances, challenges, and possibilities","volume":"6","author":"MN Moufarrej","year":"2023","journal-title":"Annu Rev Biomed Data Sci"},{"issue":"2","key":"pone.0332081.ref018","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/pd.6307","article-title":"Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening","volume":"43","author":"KL Scarff","year":"2023","journal-title":"Prenat Diagn"},{"key":"pone.0332081.ref019","first-page":"1","article-title":"Clinical application of noninvasive prenatal testing in twin pregnancies: a single-center experience","author":"Y Luo","year":"2023","journal-title":"Expert Rev Mol Diagn"},{"issue":"2","key":"pone.0332081.ref020","doi-asserted-by":"crossref","first-page":"100336","DOI":"10.1016\/j.gim.2022.11.004","article-title":"Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"JS Dungan","year":"2023","journal-title":"Genet Med"},{"issue":"13","key":"pone.0332081.ref021","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1002\/pd.6271","article-title":"Positive predictive values and outcomes for uninformative cell-free DNA tests: an Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)","volume":"42","author":"FR Grati","year":"2022","journal-title":"Prenat Diagn"},{"key":"pone.0332081.ref022","doi-asserted-by":"crossref","first-page":"864076","DOI":"10.3389\/fgene.2022.864076","article-title":"Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases","volume":"13","author":"Y Zhang","year":"2022","journal-title":"Front Genet"},{"key":"pone.0332081.ref023","doi-asserted-by":"crossref","first-page":"965106","DOI":"10.3389\/fgene.2022.965106","article-title":"A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results","volume":"13","author":"X Bu","year":"2022","journal-title":"Front Genet"},{"issue":"1","key":"pone.0332081.ref024","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s40246-020-00268-2","article-title":"Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China","volume":"14","author":"Y Liu","year":"2020","journal-title":"Hum Genomics"},{"issue":"8","key":"pone.0332081.ref025","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1002\/pd.6312","article-title":"Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: a multicenter observational study of 1,854,148 women in China","volume":"43","author":"L Xiang","year":"2023","journal-title":"Prenat Diagn"},{"issue":"13","key":"pone.0332081.ref026","article-title":"Performance analysis of non-invasive prenatal testing for trisomy 13, 18, and 21: a large-scale retrospective study (2018-2021)","volume":"10","author":"Y-S Lu","year":"2024","journal-title":"Heliyon"},{"issue":"2","key":"pone.0332081.ref027","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.c.31505","article-title":"Confined placental mosaicism and its impact on confirmation of NIPT results","volume":"172","author":"A Mardy","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"pone.0332081.ref028","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/s41436-019-0630-y","article-title":"Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA","volume":"22","author":"FR Grati","year":"2020","journal-title":"Genet Med"},{"issue":"5","key":"pone.0332081.ref029","doi-asserted-by":"crossref","DOI":"10.1016\/j.ajog.2022.07.034","article-title":"Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies","volume":"227","author":"SL Spinillo","year":"2022","journal-title":"Am J Obstet Gynecol"},{"issue":"10","key":"pone.0332081.ref030","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1002\/pd.6021","article-title":"Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?","volume":"41","author":"AH Mardy","year":"2021","journal-title":"Prenat Diagn"},{"issue":"5","key":"pone.0332081.ref031","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1056\/NEJMra1705345","article-title":"Sequencing of circulating cell-free DNA during pregnancy","volume":"379","author":"DW Bianchi","year":"2018","journal-title":"N Engl J Med"}],"container-title":["PLOS One"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0332081","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T17:37:07Z","timestamp":1759945027000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0332081"}},"subtitle":[],"editor":[{"given":"Yee Gary","family":"Ang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2025,10,8]]},"references-count":31,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025,10,8]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0332081","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,8]]}}}