Intended for healthcare professionals

Clinical Review State of the Art Review

Clinical applications of preimplantation genetic testing

BMJ 2015; 350 doi: (Published 19 February 2015) Cite this as: BMJ 2015;350:g7611
  1. Paul R Brezina, director of reproductive genetics, assistant clinical professor12,
  2. William H Kutteh, director of recurrent pregnancy loss center, clinical professor12
  1. 1Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
  2. 2Fertility Associates of Memphis, Memphis, TN, USA
  1. Correspondence to: P Brezina paul.r.brezina{at}


Genetic diagnostic technologies are rapidly changing the way medicine is practiced. Preimplantation genetic testing is a well established application of genetic testing within the context of in vitro fertilization cycles. It involves obtaining a cell(s) from a developing embryo in culture, which is then subjected to genetic diagnostic analysis; the resulting information is used to guide which embryos are transferred into the uterus. The potential applications and use of this technology have increased in recent years. Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications of such testing, such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most.


  • The authors would like to acknowledge William G Kearns, Amelia Bailey, Raymond W Ke, Jianchi Ding, James Klosky, and Jennifer Brezina for their help in reviewing this manuscript.

  • Contributors: PRB and WHK primarily searched the literature. PRB wrote the first draft of the manuscript; WHK advised on the content of the manuscript regarding generalist recurrent pregnancy loss, helped in the literature search, and contributed to the writing of the manuscript. PRB oversaw all genetic aspects of this review and contributed to the writing and editing of this manuscript. PRB is guarantor.

  • Competing interests: We have read and understood BMJ policy on declaration of interests and have none to declare.

  • Provenance and peer review: Commissioned; externally peer reviewed.

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