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  1. AU="Saidel, Matthew L"
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  1. Article ; Online: Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.

    Saidel, Matthew L / Ananth, Uma / Rose, Donna / Farrell, Cara

    Journal of clinical laboratory analysis

    2023  Volume 37, Issue 6, Page(s) e24870

    Abstract: Background: Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional ... ...

    Abstract Background: Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its widespread implementation. A unique rolling circle amplification methodology reduces cost and complexity, providing a promising alternative for increased global accessibility as a first-tier test.
    Methods: In this clinical study, 8160 pregnant women were screened on the Vanadis system for trisomies 13, 18, and 21, and positive results were compared to clinical outcomes where available.
    Results: The Vanadis system yielded a 0.07% no-call rate, a 98% overall sensitivity, and a specificity of over 99% based on available outcomes.
    Conclusion: The Vanadis system provided a sensitive, specific, and cost-effective cfDNA assay for trisomies 13, 18, and 21, with good performance characteristics and low no-call rate, and it eliminated the need for either next-generation sequencing or polymerase chain reaction amplification.
    MeSH term(s) Pregnancy ; Humans ; Female ; Prenatal Diagnosis/methods ; Trisomy/diagnosis ; Trisomy/genetics ; Aneuploidy ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Cell-Free Nucleic Acids/genetics ; Cell-Free Nucleic Acids/analysis
    Chemical Substances Cell-Free Nucleic Acids
    Language English
    Publishing date 2023-03-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645095-7
    ISSN 1098-2825 ; 0887-8013
    ISSN (online) 1098-2825
    ISSN 0887-8013
    DOI 10.1002/jcla.24870
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2471: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: 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

    Journal of medical screening

    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.
    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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    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4284: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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