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  • Community Corner
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Community Corner: Opening the Pandora's box of prenatal genetic testing

Nature Medicine volume 17, pages 250–251 (2011)Cite this article

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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.1 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.

Caroline Wright

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References

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Competing interests

D.B. is chair of the clinical advisory board of Artemis Health, an early biotechnology company working in prenatal diagnosis. She has equity options in Artemis, as well. S.R.Q. is a consultant for and equity holder of Fluidigm and Artemis Health. N.J.W. holds a patent for the Integrated test. With others, he also holds a patent in connection with the use of unconjugated oestriol as a second-trimester Down’s syndrome screening marker. He is a director of Logical Medical Systems, Ltd., which produces software for the interpretation of Down’s syndrome screening tests.

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Community Corner: Opening the Pandora's box of prenatal genetic testing. Nat Med 17, 250–251 (2011). https://doi.org/10.1038/nm0311-250

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