{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T21:10:14Z","timestamp":1777929014177,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T00:00:00Z","timestamp":1684281600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>A rolling circle amplification (RCA) based commercial methodology using cell-free (cf)DNA to screen for common trisomies became available in 2018. Relevant publications documented high detection but with a higher than expected 1% false positive rate. Preliminary evidence suggested assay variability was an issue. A multi-center collaboration was created to explore this further and examine whether subsequent manufacturer changes were effective.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Three academic (four devices) and two commercial (two devices) laboratories provided run date, chromosome 21, 18, and 13 run-specific standard deviations, number of samples run, and reagent lot identifications. Temporal trends and between-site\/device consistency were explored. Proportions of run standard deviations exceeding pre-specified caps of 0.4%, 0.4% and 0.6% were computed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Overall, 661 RCA runs between April 2019 and July 30, 2022 tested 39,756 samples. In the first 24, subsequent 9, and final 7 months, proportions of capped chromosome 21 runs dropped from 39% to 22% to 6.0%; for chromosome 18, rates were 76%, 36%, and 4.0%. Few chromosome 13 runs were capped using the original 0.60%, but capping at 0.50%, rates were 28%, 16%, and 7.6%. Final rates occurred after reformulated reagents and imaging software modifications were fully implemented across all devices. Revised detection and false positive rates are estimated at 98.4% and 0.3%, respectively. After repeat testing, failure rates may be as low as 0.3%.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Current RCA-based screening performance estimates are equivalent to those reported for other methods, but with a lower test failure rate after repeat testing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/09691413231173315","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T03:26:32Z","timestamp":1684293992000},"page":"168-174","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues"],"prefix":"10.1177","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6154-8449","authenticated-orcid":false,"given":"Glenn E","family":"Palomaki","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Women & Infants Hospital and Alpert Medical School at Brown University, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9440-3411","authenticated-orcid":false,"given":"Geralyn M","family":"Lambert-Messerlian","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Women & Infants Hospital and Alpert Medical School at Brown University, Providence, RI, USA"},{"name":"Department of Obstetrics and Gynecology, Women & Infants Hospital, Providence, RI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna","family":"Fullerton","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry, Nottingham University Hospitals NHS Trust, Nottingham, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhuri","family":"Hegde","sequence":"additional","affiliation":[{"name":"Global Laboratory Services, PerkinElmer, Inc, Atlanta, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"St\u00e9phanie","family":"Conotte","sequence":"additional","affiliation":[{"name":"Department of Blood Transfusion, University Hospital Brugmann, Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew L","family":"Saidel","sequence":"additional","affiliation":[{"name":"Women's Health USA, Hartford, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques C","family":"Jani","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital Brugmann, Universit\u00e9 Libre de Bruxelles, Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,5,17]]},"reference":[{"key":"bibr1-09691413231173315","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(84)90530-1"},{"key":"bibr2-09691413231173315","doi-asserted-by":"publisher","DOI":"10.1177\/096914130301000202"},{"key":"bibr3-09691413231173315","volume":"136","author":"Screening for Fetal Chromosomal Abnormalities","year":"2020","journal-title":"Obstet 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