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Prenatal diagnostics

Fetal genes in mother's blood

Nature volume 487, pages 304–305 (2012)Cite this article

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The genome sequence of a fetus can be inferred from the relative numbers of variants of DNA sequences in a pregnant woman's blood. This advance in non-invasive diagnostics comes with some ramifications. See Article p.320

Until the mid-twentieth century, medical examination of a human fetus was surprisingly crude, consisting principally of uterine palpation to assess fetal growth. Over the past 35 years, however, progress in fetal-imaging techniques, combined with measurement of the chemical composition of maternal blood, has substantially improved the assessment of fetal health1. On page 320 of this issue, Fan et al.2 demonstrate that it is now possible to unambiguously determine the whole genome sequence of a fetus from a teaspoon's worth of maternal blood. The potential repercussions of such non-invasive prenatal screening must be carefully considered, particularly as the development comes at a time when many health-care providers are not familiar with the complex concepts of molecular genetics.

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Figure 1: Deducing a fetal genome.

References

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Authors and Affiliations

  1. and in the Departments of Pediatrics, Diana W. Bianchi is at the Mother Infant Research Institute, Tufts Medical Center, Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA.,

    Diana W. Bianchi

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  1. Diana W. Bianchi
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Correspondence to Diana W. Bianchi.

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Competing interests

The author is chair of the clinical advisory board of Verinata Health. She receives honoraria and equity from the company.

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Bianchi, D. Fetal genes in mother's blood. Nature 487, 304–305 (2012). https://doi.org/10.1038/487304a

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