Abstract
(Abstracted from Prenat Diagn 2018;38:849–857) The discovery of cell-free fetal DNA in maternal plasma and the invention of massively parallel sequencing have made noninvasive prenatal testing (NIPT) for fetal common aneuploidies (trisomies 13, 18, and 21) a clinical reality. Noninvasive prenatal testing has been recommended as a first-tier or second-tier screening test for common fetal trisomies, with lower false-positive rates and higher positive predictive values than serum biochemical screening.
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