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Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

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Prenatal Diagnosis

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

Abstract

Preimplantation genetic diagnosis (PGD) can be considered the earliest form of prenatal testing. It was first used in humans over 26 years ago. At its inception, PGD could only be performed for a limited number of genetic disorders. Technological advances in molecular biology and cytogenomics have been utilized in the field of PGD to greatly expand the spectrum of genetic disorders that can now be detected in early human embryos.

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Notes

  1. 1.

    Preimplantation genetic diagnosis (PGD) is the term traditionally applied. For aneuploidy, preimplantation genetic screening (PGS) is often used. However, preimplantation genetic testing (PGT) is now considered by WHO to be more appropriate [1]. The reason is that rarely does a confirmatory “test” follow PGD, and especially after interrogation for aneuploidy testing to increase pregnancy rates. That “screening” is a misnomer is increasingly recognized. Here we use the terms interchangeably given historical literature but accept that PGT is the term to be used going forward.

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Authors and Affiliations

  1. March of Dimes Foundation, White Plains, NY, USA

    Joe Leigh Simpson

  2. Florida International University, Miami, FL, USA

    Joe Leigh Simpson, Anver Kuliev & Svetlana Rechitsky

  3. Reproductive Genetics Institute, Inc. (RGI), Northbrook, IL, USA

    Joe Leigh Simpson, Anver Kuliev & Svetlana Rechitsky

Authors
  1. Joe Leigh Simpson
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  2. Anver Kuliev
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  3. Svetlana Rechitsky
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Corresponding author

Correspondence to Joe Leigh Simpson .

Editor information

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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Simpson, J.L., Kuliev, A., Rechitsky, S. (2019). Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction. 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_2

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  • DOI: https://doi.org/10.1007/978-1-4939-8889-1_2

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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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