{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:04:34Z","timestamp":1791983074139,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the performance of prenatal screening for common autosomal trisomies in twin pregnancies through the use of rolling\u2010circle replication (RCR)\u2010cfDNA as a first\u2010tier test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Prospective multicenter study. Women who underwent prenatal screening for trisomy (T) 21, 18 and 13 between January 2019 and March 2022 in twin pregnancies were included. Patients were included in two centers. The primary endpoint was the rate of no\u2010call results in women who received prenatal screening for common autosomal trisomies by RCR\u2010cfDNA at the first attempt, compared to that in prospectively collected samples from 16,382 singleton pregnancies. The secondary endpoints were the performance indices of the RCR\u2010cfDNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>862 twin pregnancies underwent screening for T21, T18 and T13 by RCR\u2010cfDNA testing at 10\u201333\u00a0weeks' gestation. The RCR\u2010cfDNA tests provided a no\u2010call result from the first sample obtained from the patients in 107 (0.7%) singleton and 17 (2.0%) twin pregnancies. Multivariable regression analysis demonstrated that significant independent predictors of test failure were twin pregnancy and in vitro fertilization conception.<\/jats:p><jats:p>All cases of T21 (<jats:italic>n<\/jats:italic>\u00a0=\u00a020\/862; 2.3%), T18 (<jats:italic>n<\/jats:italic>\u00a0=\u00a04\/862; 0.5%) and T13 (<jats:italic>n<\/jats:italic>\u00a0=\u00a01\/862; 0.1%) were correctly detected by RCR\u2010cfDNA (respectively, 20, 4 and 1 cases). Sensitivity was 100% (95% CI, 83.1%\u2013100%), 100% (95% CI 39.8%\u2013100%) and 100% (95% CI 2.5%\u2013100%) for T21, T18 and T13, respectively, in twin pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The RCR\u2010cfDNA test appears to have good accuracy with a low rate of no\u2010call results in a cohort of twin pregnancies for the detection of the most frequent autosomal trisomies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6615","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T12:33:40Z","timestamp":1716813220000},"page":"953-958","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cell\u2010free DNA screening for common autosomal trisomies using rolling\u2010circle replication in twin pregnancies"],"prefix":"10.1002","volume":"44","author":[{"given":"Alexandre J.","family":"Vivanti","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Antoine B\u00e9cl\u00e8re Hospital Paris Saclay University AP\u2010HP  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Maestroni","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Antoine B\u00e9cl\u00e8re Hospital Paris Saclay University AP\u2010HP  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6045-0765","authenticated-orcid":false,"given":"Alexandra","family":"Benachi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Antoine B\u00e9cl\u00e8re Hospital Paris Saclay University AP\u2010HP  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Conotte","sequence":"additional","affiliation":[{"name":"Department of Blood Transfusion University Hospital Brugmann  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annegret","family":"Geipel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine University Hospital of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1497-5143","authenticated-orcid":false,"given":"Karl Oliver","family":"Kagan","sequence":"additional","affiliation":[{"name":"University Hospital Tuebingen  Tuebingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni","family":"Borrell","sequence":"additional","affiliation":[{"name":"BCNatal\u2010Hospital Clinic Barcelona Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanane","family":"El Kenz","sequence":"additional","affiliation":[{"name":"Department of Blood Transfusion University Hospital Brugmann  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marc","family":"Costa","sequence":"additional","affiliation":[{"name":"Laboratory CERBA  Saint\u2010Ouen\u2010l'Aum\u00f4ne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2252-342X","authenticated-orcid":false,"given":"Jacques C.","family":"Jani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University Hospital Brugmann Universit\u00e9 Libre de Bruxelles  Brussels 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