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Objective
To assess the performance of a non‐invasive prenatal screening test (NIPT) for a panel of dominant single‐gene disorders (SGD) with a combined population incidence of 1 in 600.
Methods
Cell‐free fetal DNA isolated from maternal plasma samples accessioned from 14 April 2017 to 27 November 2019 was analyzed by next‐generation sequencing, targeting 30 genes, to look for pathogenic or likely...
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