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Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions

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Prenatal Diagnosis

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1885))

Abstract

The field of prenatal screening and diagnosis has undergone enormous progress over the past four decades. Most of this period has been characterized by gradual improvements in the technical and public health aspects of prenatal screening for Down syndrome. Compared to the direct analysis of fetal cells from amniocentesis or chorionic villus sampling, noninvasive approaches using maternal blood or ultrasound have the great advantage of posing no risk of miscarriage to the pregnancy. Recent advances in molecular genetics and DNA sequencing have revolutionized both the accuracy and the range of noninvasive testing for genetic abnormalities using cell-free DNA in maternal plasma. Many of these advances have already been incorporated into clinical care, including diagnosis of fetal blood group and aneuploidy screening. The accelerated pace of these recent developments is creating not just technical and logistical challenges, but is also magnifying the ethical and public policy issues traditionally associated with this field.

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Authors and Affiliations

  1. Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, VIC, Australia

    Lisa Hui

  2. Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC, Australia

    Lisa Hui

  3. Reproductive Epidemiology, Murdoch Children’s Research Institute, Parkville, VIC, Australia

    Lisa Hui

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  1. Lisa Hui
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Correspondence to Lisa Hui .

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Editors and Affiliations

  1. Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA

    Brynn Levy

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Hui, L. (2019). Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions. In: Levy, B. (eds) Prenatal Diagnosis. Methods in Molecular Biology, vol 1885. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8889-1_3

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  • DOI: https://doi.org/10.1007/978-1-4939-8889-1_3

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-8887-7

  • Online ISBN: 978-1-4939-8889-1

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