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Prenatal Detection of Chromosome Aneuploidy by Quantitative-Fluorescence PCR

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Book cover PCR Mutation Detection Protocols

Part of the book series: Methods in Molecular Biology ((MIMB,volume 688))

Abstract

QF-PCR refers to the amplification of chromosome-specific polymorphic microsatellite markers using fluorescence-labelled primers, followed by semi-quantitative analysis of the products on a genetic analyser to determine copy number and/or imbalances of specific chromosomal material. This approach is now widely used for rapid prenatal diagnosis of the common trisomies. In addition, it can successfully detect maternal cell contamination and mosaicism in prenatal material.

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Author information

Authors and Affiliations

  1. Cytogenetics Department, Guy’s Hospital, London, UK

    Kathy Mann

  2. Department of Obstetrics and Gynaecology, Medical University Graz, Graz, Austria

    Erwin Petek & Barbara Pertl

Authors
  1. Kathy Mann
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  2. Erwin Petek
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  3. Barbara Pertl
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Corresponding author

Correspondence to Kathy Mann .

Editor information

Editors and Affiliations

  1. NHS Foundation Trust, Department of Haematology, Birmingham Childrens Hospital, Steelhouse Lane, Birmingham, B4 6NH, United Kingdom

    Bimal D.M. Theophilus

  2. Dept. Biosciences, University of Hertfordshire, College Lane, Hatfield, Herts., AL10 9AB, United Kingdom

    Ralph Rapley

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© 2011 Humana Press

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Mann, K., Petek, E., Pertl, B. (2011). Prenatal Detection of Chromosome Aneuploidy by Quantitative-Fluorescence PCR. In: Theophilus, B., Rapley, R. (eds) PCR Mutation Detection Protocols. Methods in Molecular Biology, vol 688. Humana Press. https://doi.org/10.1007/978-1-60761-947-5_14

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  • DOI: https://doi.org/10.1007/978-1-60761-947-5_14

  • Published:

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-60761-946-8

  • Online ISBN: 978-1-60761-947-5

  • eBook Packages: Springer Protocols

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