Article ; Online: Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.
2023 Volume 30, Issue 4, Page(s) 168–174
Abstract: 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 ... ...
| Abstract | 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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| MeSH term(s) | Pregnancy ; Female ; Humans ; Cell-Free Nucleic Acids/genetics ; Early Detection of Cancer ; Prenatal Diagnosis/methods ; Trisomy/diagnosis ; Trisomy/genetics |
| Chemical Substances | Cell-Free Nucleic Acids |
| Language | English |
| Publishing date | 2023-05-17 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 1235253-6 |
| ISSN | 1475-5793 ; 0969-1413 |
| ISSN (online) | 1475-5793 |
| ISSN | 0969-1413 |
| DOI | 10.1177/09691413231173315 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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