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Preimplantation Genetic Testing: Available and Emerging Technologies

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In Vitro Fertilization

Abstract

Since the first successful in vitro fertilization (IVF) cycle, there have been tremendous advancements in the technologies surrounding IVF. Specific genetic disorders such as parental chromosomal translocations or inversions and single gene mutations such as cystic fibrosis or fragile X, as well as abnormalities in the number of chromosomes, or aneuploidy, are major barriers to achieving a healthy live born infant. Preimplantation genetic diagnosis (PGD) for specific chromosomal or genetic disorders and preimplantation genetic screening (PGS) for determination of the number of chromosomes, are techniques that have been developed to prevent the uterine transfer of genetically abnormal embryos during IVF cycles. The purpose of preimplantation genetic testing (PGT), that is PGD or PGS, is to improve the likelihood of giving birth to a healthy baby.

The clinical management of a patient who presents requesting PGT is complex. In order to successfully conduct a complete cycle of PGT, from patient counseling to embryo transfer and pregnancy evaluation, a multidisciplinary team of expert genetic counselors, IVF clinicians, and laboratory personnel, and genetic testing laboratory must work together. This chapter reviews the clinical situations that most commonly lead patients to present for PGT, patient counseling, how available testing is appropriately applied, utilization of PGT, and expected outcomes.

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Authors and Affiliations

  1. Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Johns Hopkins Medical Institutions, Phipps 264, 600N, Wolfe Street, Baltimore, MD, 21287, USA

    Paul R. Brezina M.D., MBA

  2. The Center for Reproductive Medicine, Weill Cornell Medical College, 1305 York Avenue, 7th floor, New York, NY, 10021, USA

    Rony T. Elias M.D.

  3. Department of OB/GYN, The Center for Reproductive and Infertility, Cornell Weill Medical Center, New York Presbyterian Hospital, Weill Medical College, Cornell University, 1305 York Avenue, New York, NY, 10021, USA

    Glenn Schattman M.D.

  4. Department of Gynecology and Obstetrics, Johns Hopkins Medical Institutions, Phipps 264, 600N, Wolfe Street, Baltimore, MD, 21287, USA

    William G. Kearns Ph.D

  5. The Center for Preimplantation Genetics, LabCorp., Rockville, MD, 20850, USA

    William G. Kearns Ph.D

Authors
  1. Paul R. Brezina M.D., MBA
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  2. Rony T. Elias M.D.
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  3. Glenn Schattman M.D.
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  4. William G. Kearns Ph.D
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Correspondence to William G. Kearns Ph.D .

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Editors and Affiliations

  1. and Infertility, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, Francis St 75, Boston, 02115, Massachusetts, USA

    Elizabeth S. Ginsburg

  2. and Infertility, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinlogy, Francis St. 75, Boston, 02115, Massachusetts, USA

    Catherine Racowsky

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Brezina, P.R., Elias, R.T., Schattman, G., Kearns, W.G. (2012). Preimplantation Genetic Testing: Available and Emerging Technologies. In: Ginsburg, E., Racowsky, C. (eds) In Vitro Fertilization. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-9848-4_8

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