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  • State-Wide Utilization and Performance of Traditional and Cell-Free DNA-Based Prenatal Testing Pathways: The Victorian Perinatal Record Linkage (PeRL) Study

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    Accepted Manuscript (AM)
    Author(s)
    Lindquist, A
    Hui, L
    Poulton, A
    Kluckow, E
    Hutchinson, B
    Pertile, MD
    Bonacquisto, L
    Gugasyan, L
    Kulkarni, A
    Harraway, J
    Howden, A
    McCoy, R
    Da Silva Costa, F
    Menezes, M
    et al.
    Griffith University Author(s)
    Da Silva Costa, Fabricio
    Year published
    2021
    Metadata
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    Abstract
    In recent years, the use of combined first-trimester screening (CFTS) and cell-free DNA (cfDNA) screening has increased. With the rise of CFTS and cfDNA prenatal testing, there has been a dramatic decrease in the number of invasive diagnostic tests performed during pregnancy. In this study, the authors performed a record-linkage study to obtain state-wide cfDNA, CFTS, and postnatal cytogenetic data to determine the utilization and performance of different genetic screening pathways, as well as to determine the number of major chromosomal abnormalities detected following a low-risk CFTS or cfDNA result in Australia.In recent years, the use of combined first-trimester screening (CFTS) and cell-free DNA (cfDNA) screening has increased. With the rise of CFTS and cfDNA prenatal testing, there has been a dramatic decrease in the number of invasive diagnostic tests performed during pregnancy. In this study, the authors performed a record-linkage study to obtain state-wide cfDNA, CFTS, and postnatal cytogenetic data to determine the utilization and performance of different genetic screening pathways, as well as to determine the number of major chromosomal abnormalities detected following a low-risk CFTS or cfDNA result in Australia.
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    Journal Title
    Obstetrical and Gynecological Survey
    Volume
    76
    Issue
    1
    DOI
    https://doi.org/10.1097/OGX.0000000000000883
    Copyright Statement
    © 2021 LWW. This is a non-final version of an article published in final form in Obstetrical and Gynecological Survey, 2021, 76 (1), pp. 3-5. Reproduced in accordance with the copyright policy of the publisher. Please refer to the journal link for access to the definitive, published version.
    Subject
    Paediatrics
    Publication URI
    http://hdl.handle.net/10072/408987
    Collection
    • Journal articles

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