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From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

Abstract

Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment.

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Figure 1: Outline of the three major current techniques for analyzing fetal chromosomes.
Figure 2: Cell-free DNA analysis to diagnose fetal disorders.
Figure 3: A potential future diagnostic and treatment strategy for Down's syndrome.

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Acknowledgements

The author would like to thank D. Walt, E. Norwitz, J. Maron and L. Hui for their critical reading of the manuscript and their suggestions. In addition, she is grateful for the administrative support provided by R. Forman. The author's time and effort in writing this manuscript was partially supported by the US National Institutes of Health grant HD42053-09.

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Correspondence to Diana W Bianchi.

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D.W.B. is Chair of the Clinical Advisory Board of Verinata Health, Inc. and receives honoraria and equity options in the company for this role.

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Bianchi, D. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges. Nat Med 18, 1041–1051 (2012). https://doi.org/10.1038/nm.2829

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