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Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.
Palomaki, Glenn E; Lambert-Messerlian, Geralyn M; Fullerton, Donna; Hegde, Madhuri; Conotte, Stéphanie; Saidel, Matthew L; Jani, Jacques C.
Afiliación
  • Palomaki GE; Department of Pathology and Laboratory Medicine, Women & Infants Hospital and Alpert Medical School at Brown University, Providence, RI, USA.
  • Lambert-Messerlian GM; Department of Pathology and Laboratory Medicine, Women & Infants Hospital and Alpert Medical School at Brown University, Providence, RI, USA.
  • Fullerton D; Department of Obstetrics and Gynecology, Women & Infants Hospital, Providence, RI, USA.
  • Hegde M; Department of Clinical Chemistry, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Conotte S; Global Laboratory Services, PerkinElmer, Inc, Atlanta, GA, USA.
  • Saidel ML; Department of Blood Transfusion, University Hospital Brugmann, Brussels, Belgium.
  • Jani JC; Women's Health USA, Hartford, CT, USA.
J Med Screen ; 30(4): 168-174, 2023 12.
Article en En | MEDLINE | ID: mdl-37194254
OBJECTIVE: 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. METHODS: 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. RESULTS: 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%. CONCLUSION: Current RCA-based screening performance estimates are equivalent to those reported for other methods, but with a lower test failure rate after repeat testing.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácidos Nucleicos Libres de Células Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: J Med Screen Asunto de la revista: EPIDEMIOLOGIA / SAUDE PUBLICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ácidos Nucleicos Libres de Células Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: J Med Screen Asunto de la revista: EPIDEMIOLOGIA / SAUDE PUBLICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido