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Published in

BMJ Publishing Group, Archives of Disease in Childhood. Fetal and Neonatal Edition, 5(99), p. F426-F430, 2014

DOI: 10.1136/archdischild-2013-304828

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Non-invasive prenatal diagnosis: Progress and potential

Journal article published in 2014 by Rebecca Daley, Melissa Hill, Ls S. Chitty ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

Full text: Unavailable

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Preprint: archiving allowed
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Data provided by SHERPA/RoMEO

Abstract

Non-invasive prenatal diagnosis and testing by analysis of cell-free DNA in the maternal circulation is a rapidly evolving field. Current clinical applications include fetal sex determination, fetal rhesus D determination, the diagnosis of some single gene disorders, and a highly accurate screening test for aneuploidies. In the future it is likely to be used for the diagnosis of an increasing range of monogenic disorders, and may even be used to pro file entire fetal genomes. The introduction of these tests into clinical practice brings clear benefits but also poses several ethical, social and service delivery challenges. Here, we discuss the current clinical applications, discuss some of the technical and ethical challenges, and look to what the future might bring as technology continues to evolve.