{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:04:33Z","timestamp":1791983073946,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100015984","name":"Perkin-Elmer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015984","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess the efficacy of cell\u2010free (cf)DNA screening for aneuploidy using the automated system based on rolling circle replication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A prospective study among women referred for invasive prenatal diagnosis between July 2018 and December 2019. The plasma fraction was extracted within 5\u00a0days from blood collection, stored at \u221220\u00b0C and cfDNA measured between January and December 2019.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 805 women were recruited; 778 with singleton pregnancies and 27 twins. There were 48 Down syndrome, 25 Edwards syndrome and 3 Patau syndrome cases. Overall, the no\u2010call rate was 2.6% (95% confidence interval 1.6%\u20133.9%) which reduced from 4.7% to 1.1% after relocation of the system (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.002) to ensure a constant ambient temperature below 25\u00b0C. In singletons the Down syndrome detection rate (DR) was 100% (93%\u2013100%) and false\u2010positive rate (FPR) 0.14% (0.00%\u20130.79%). The Edwards syndrome DR was 96% (80%\u2013100%) and FPR 0.78% (0.29%\u20131.7%). One false\u2010positive had a confined placental trisomy 18 and the remaining five a z\u2010score requiring sample repetition; all the false\u2010positives occurred before system relocation (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.005). Patau syndrome DR and FPR were 67% (9.4%\u201399%) and 0.26% (0.03%\u20130.95%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The cfDNA rolling circle method yields similar results to other methods provided that room temperature is adequately controlled.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6050","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T18:41:52Z","timestamp":1632768112000},"page":"1694-1700","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Cell\u2010free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5499-1354","authenticated-orcid":false,"given":"Enza","family":"Pavanello","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera 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Pia","family":"Ciuffreda","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera Universitaria Citt\u00e0 della Salute e della Scienza  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pina","family":"Sauro","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera Universitaria Citt\u00e0 della Salute e della Scienza  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Bondielli","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera Universitaria Citt\u00e0 della Salute e della Scienza  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mirante","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera Universitaria Citt\u00e0 della Salute e della Scienza  Turin 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