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ObjectivesTo report the clinical performance of massively parallel sequencing‐based non‐invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low‐risk and high‐risk pregnancies.
MethodsBetween 1 January 2012 and 31 August 2013, 147 314 NIPT requests to screen for fetal trisomies 21, 18 and 13 using low‐coverage whole‐genome...
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