16. Preimplantation Genetic Diagnosis

  1. Emre Seli MD1,2,3
  1. Maria D. Lalioti PhD

Published Online: 8 MAR 2011

DOI: 10.1002/9781444393958.ch16

Infertility

Infertility

How to Cite

Lalioti, M. D. (2011) Preimplantation Genetic Diagnosis, in Infertility (ed E. Seli), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444393958.ch16

Editor Information

  1. 1

    Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA

  2. 2

    Division of Reproductive Endocrinology and Infertility, Yale University School of Medicine, New Haven, Connecticut, USA

  3. 3

    Oocyte Donation and Gestational Surrogacy Program, Yale University School of Medicine, New Haven, Connecticut, USA

Author Information

  1. Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA

Publication History

  1. Published Online: 8 MAR 2011
  2. Published Print: 23 MAR 2011

Book Series:

  1. Gynecology in Practice

Book Series Editors:

  1. Aydin Arici

ISBN Information

Print ISBN: 9781444333534

Online ISBN: 9781444393958

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Keywords:

  • preimplantation genetic diagnosis;
  • preimplantation genetic diagnosis (PGD) - screening of embryos at cleavage stage;
  • European Society of Human Reproduction and Embryology (ESHRE) - PGD into two categories;
  • PGD, in early stage embryos - before implantation, and use of IVF;
  • pitfalls of PCR methods for PGD - problems using PCR, failed amplification (FA) and PCR contamination;
  • preimplantation genetic screening - aneuploidy screening using FISH;
  • comparative genome hybridization (CGH);
  • Array CGH (aCGH), comparative genome hybridization - in microarray format;
  • HLA typing, and use of PGD - and ethical dilemmas;
  • blastocyst biopsy and embryo vitrification - embryo mosaicism, factors contributing to PGS error rate

Summary

Preimplantation genetic diagnosis (PGD) is the screening of embryos at the cleavage stage in order to select and transfer only the desired embryo. The main indications for PGD are monogenic disorders and aneuploidy. Embryos can be biopsied at the cleavage or blastocyst stage. This chapter presents the clinical indications for PGD, the technical challenges and the ethical considerations arising from its use.