{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:17:59Z","timestamp":1787239079298,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T00:00:00Z","timestamp":1733529600000},"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":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report the diagnostic accuracy of cell\u2010free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20\u2009weeks of gestation) who underwent cfDNA screening for trisomies 21, 18\u00a0and\u00a013, other autosomal aneuploidies, sex\u2010chromosome aneuploidies and\/or copy\u2010number variants (CNVs). The index test was cfDNA screening for each of the chromosomal anomalies listed. The reference standard was cytogenetic analysis of pregnancy tissue. The quality of the studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio were computed using the hierarchical summary receiver\u2010operating\u2010characteristics model.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Seven studies (887 women) were included in the systematic review and meta\u2010analysis. cfDNA had a sensitivity and specificity of 100% (95%\u2009CI, 81.5\u2013100%) and 100% (95%\u2009CI, 99.1\u2013100%), respectively, for trisomy 21, 100% (95%\u2009CI, 54.1\u2013100%) and 100% (95%\u2009CI, 99.0\u2013100%), respectively, for trisomy 18, and 88.9% (95%\u2009CI, 51.8\u201399.7%) and 100% (95%\u2009CI, 99.1\u2013100%), respectively, for trisomy 13. The respective values for other autosomal trisomies were 75.8% (95%\u2009CI, 65.7\u201384.2%) and 99.4% (95%\u2009CI, 97.9\u201399.9%), while those for CNVs were 60.0% (95%\u2009CI, 14.7\u201394.7%) and 100% (95%\u2009CI, 97.4\u2013100%). Failure of cfDNA testing was reported in 7.3% (95%\u2009CI, 5.7\u20139.2%) of cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>cfDNA has high diagnostic accuracy in detecting fetal trisomies 21, 18 and 13 in women experiencing miscarriage, while its accuracy for other autosomal aneuploidies and CNVs is only moderate. \u00a9 2024 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/uog.29131","type":"journal-article","created":{"date-parts":[[2024,12,7]],"date-time":"2024-12-07T14:08:47Z","timestamp":1733580527000},"page":"13-19","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Accuracy of cell\u2010free fetal\n                    <scp>DNA<\/scp>\n                    in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta\u2010analysis"],"prefix":"10.1002","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-9809-922X","authenticated-orcid":false,"given":"L.","family":"Della Valle","sequence":"first","affiliation":[{"name":"Center for Fetal Care and High\u2010Risk Pregnancy University of Chieti  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-6771-8622","authenticated-orcid":false,"given":"M.","family":"Piergianni","sequence":"additional","affiliation":[{"name":"Center for Fetal Care and High\u2010Risk Pregnancy University of Chieti  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2802-7670","authenticated-orcid":false,"given":"A.","family":"Khalil","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit St George's University Hospitals NHS Foundation Trust, University of London  London UK"},{"name":"Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London  London UK"},{"name":"Twins Trust Centre for Research and Clinical Excellence, St George's University Hospital St George's University of London  London UK"},{"name":"Fetal Medicine Unit, Liverpool Women's Hospital University of Liverpool  Liverpool UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5525-4353","authenticated-orcid":false,"given":"G.","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Universit\u00e0 Tor Vergata  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Mappa","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Universit\u00e0 Tor Vergata  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Matarrelli","sequence":"additional","affiliation":[{"name":"Center for Fetal Care and High\u2010Risk Pregnancy University of Chieti  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8454-4878","authenticated-orcid":false,"given":"A.","family":"Lucidi","sequence":"additional","affiliation":[{"name":"Center for Fetal Care and High\u2010Risk Pregnancy University of Chieti  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Manzoli","sequence":"additional","affiliation":[{"name":"Section of Hygiene and Preventive Medicine University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1404-4314","authenticated-orcid":false,"given":"M. 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