Accurate Description of DNA-Based Noninvasive Prenatal Screening

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Abstract
Cell-free DNA–based noninvasive prenatal screening (which has also been called noninvasive prenatal diagnosis and noninvasive prenatal testing) is now offered by several companies that use various analytic methods. This screening has been reported to have higher detection rates for trisomy 21 (Down's syndrome) (99.0%), trisomy 18 (96.8%), and trisomy 13 (92.1%) than previous noninvasive prenatal screening methods.1 However, evidence of the actual performance of noninvasive prenatal screening in the general population is limited. Furthermore, discordant results between noninvasive prenatal screening and traditional cytogenetic analysis have been observed,2 despite the high sensitivity and specificity of the assay.