Preimplantation genetic testing

BMJ 2012; 345 doi: http://dx.doi.org/10.1136/bmj.e5908 (Published 18 September 2012)
Cite this as: BMJ 2012;345:e5908

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  1. Paul R Brezina, coordinator of reproductive genetics1,
  2. Dawn S Brezina, assistant consulting professor2,
  3. William G Kearns, associate professor and director 34
  1. 1Fertility Associates of Memphis, Memphis, TN 38120, USA
  2. 2Department of Medicine, Duke University School of Medicine, Durham, NC, USA
  3. 3Department of Gynecology and Obstetrics, Division of Reproductive Endocrinology and Infertility, Johns Hopkins University School of Medicine, Baltimore, MD, USA
  4. 4Center for Preimplantation Genetics, LabCorp, Rockville, MD
  1. Correspondence to: P Brezina pbrezina{at}fertilitymemphis.com
  • Accepted 29 August 2012

Summary points

  • Preimplantation genetic (PG) testing is the practice of obtaining a cellular biopsy sample from a developing human oocyte or embryo, obtained via a cycle of in vitro fertilisation (IVF); evaluating the sample’s genetic composition; and using this information to determine which embryos will be optimal for subsequent uterine transfer

  • PG testing is divided into two broad categories: diagnosis and screening

  • The purpose of PG diagnosis is to prevent the birth of affected children from parents with a known genetic abnormality, and is widely acknowledged as acceptable for routine clinical application

  • The purpose of PG screening is to identify optimal embryos for uterine transfer in an IVF cycle and, in so doing, improve pregnancy success in certain patient populations; its routine clinical application remains controversial

  • PG testing, especially with PG screening, might not always indicate the ultimate genetic status of the fetus

  • As genetic diagnostic technology continues to advance, PG testing must be used in an ethical and equitable manner

Preimplantation genetic (PG) testing is the practice of obtaining a cellular biopsy sample from a developing human oocyte or embryo, acquired via a cycle of in vitro fertilisation (IVF); evaluating the genetic composition of this sample; and using this information to determine which embryos will be optimal for subsequent uterine transfer. PG testing was first described in 1990 when the sex of cleavage stage embryos in two couples, both with X linked diseases, was determined.1 The applications and use of various types of PG testing have continued to increase. However, the benefits and limitations of PG testing, both in popular culture and the medical community, are often misunderstood. This article reviews the technologies available in PG testing, and discusses the risks, ethical considerations, appropriateness, and controversy surrounding its use in different clinical situations.

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