{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T18:34:56Z","timestamp":1793298896079,"version":"4.5.0"},"reference-count":56,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T00:00:00Z","timestamp":1736640000000},"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":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report the diagnostic accuracy of cell\u2010free fetal DNA (cfDNA) in maternal blood in detecting fetal chromosomal anomalies in twin pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to November 2023. The inclusion criteria were twin pregnancy undergoing cfDNA screening for trisomies 21, 18 and 13, monosomy X and\/or other sex\u2010chromosome aneuploidies (SCA). The index test was cfDNA screening. The reference standard was pre\u2010 or postnatal karyotyping (in the case of a positive cfDNA result) or neonatal phenotypic assessment (in case of a negative cfDNA result). The quality of included studies was assessed using the revised quality assessment of diagnostic accuracy studies (QUADAS\u20102) tool. Summary estimates of diagnostic accuracy were computed using a bivariate random\u2010effects model.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty\u2010five studies were included in the systematic review and meta\u2010analysis. cfDNA had a high accuracy in detecting trisomy 21 in twin pregnancy, with a sensitivity of 98.8% (95%\u2009CI, 96.5\u2013100%) and specificity of 100% (95%\u2009CI, 99.9\u2013100%). Sensitivity and specificity were 94.9% (95%\u2009CI, 75.9\u201399.1%) and 100% (95%\u2009CI, 99.9\u2013100%), respectively, for trisomy 18 and 84.6% (95%\u2009CI, 54.6\u201398.1%) and 100% (95%\u2009CI, 99.9\u2013100%), respectively, for trisomy 13. We could not compute the diagnostic accuracy of cfDNA in detecting monosomy X, owing to an absence of positive cases, while cfDNA had a sensitivity of 100% (95%\u2009CI, 71.5\u2013100%) and specificity of 99.8% (95%\u2009CI, 99.7\u201399.9%) for other SCA. The accuracy of cfDNA in detecting the common trisomies was similar in dichorionic and monochorionic twin pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>cfDNA has high diagnostic accuracy in detecting trisomies 21 and 18 in twin pregnancy, irrespective of chorionicity. Estimation of diagnostic accuracy for trisomy 13 and other SCA was limited by the small number of affected cases and the difficulty associated with detecting false\u2010negative cases of other SCA, and thus requires confirmation in larger studies. \u00a9 2024 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.27698","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T10:59:40Z","timestamp":1716375580000},"page":"147-153","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diagnostic accuracy of cell\u2010free fetal <scp>DNA<\/scp> in maternal blood in detecting chromosomal anomalies in twin pregnancy: 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"}]},{"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"}]},{"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"}]},{"given":"A.","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Genetics Ospedale Pediatrico Bambino Ges\u00f9  Roma Italy"}],"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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2329-4470","authenticated-orcid":false,"given":"S.","family":"Prasad","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust University of London  London UK"}],"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"}]},{"given":"V.","family":"Gatta","sequence":"additional","affiliation":[{"name":"Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST) \u2018G. d'Annunzio\u2019 University of Chieti\u2010Pescara  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Stuppia","sequence":"additional","affiliation":[{"name":"Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST) \u2018G. d'Annunzio\u2019 University of Chieti\u2010Pescara  Chieti Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Pagani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology ASST Papa Giovanni XXII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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