Trisomy 21, or Down's syndrome, is the most common autosomal aneuploidy, occurring in 1 in 600 live births in the absence of prenatal testing and selective abortion. However, current prenatal diagnosis of trisomy 21 requires invasive procedures, which are associated with a risk of miscarriage. Rossa Chiu et al. now report the first large-scale noninvasive prenatal assessment of trisomy 21 using multiplex sequencing to analyze fetal DNA from maternal plasma. These results raise the possibility that sequencing approaches might be integrated into current screening and diagnosis programs for Down's syndrome and perhaps even be applied to the diagnosis of other genetic diseases. We asked four experts to comment on the implications of this study for prenatal genetic screening and diagnostics.
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