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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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)
Year published
2021
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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.
Journal Title
Obstetrical and Gynecological Survey
Volume
76
Issue
1
DOI
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
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