Comment on 'Clinical application of massively parallel sequencing-based prenatal non-invasive fetal trisomy test for trisomies 21 and 18 in 11105 pregnancies with mixed risk factors'

摘要

We have read with great interest the report by Dan etal. on non-invasive prenatal testing of fetal trisomies via next generation sequencing techniques. This study along with many others, emphasizes the utility and power of incorporating non-invasive prenatal testing into standard maternal/fetal health care practices. This implementation has been particularly important for individuals with higher risk factors for fetal trisomies. Dan et al. classified 190 cases as trisomy out of a mixed risk cohort of 11105 samples resulting in a high performance assay with 100% sensitivity and 99.96% specificity for detection of fetal trisomies 21 and 18, respectively.