Preimplantation genetic testing: Indications and controversies

Amber R. Cooper*, Emily S. Jungheim

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


In the last two decades, the use of preimplantation genetic testing has increased dramatically. This testing is used for identifying singlegene disorders, chromosomal abnormalities, mitochondrial disorders, gender selection in non-mendelian disorders with unequal gender distribution, aneuploidy screening, and other preconceptually identified genetic abnormalities in prospective parents. Genetic testing strategies and diagnostic accuracy continues to improve, but not without risks or controversies. In this review the authors discuss the techniques and clinical application of preimplantation genetic diagnosis, and the debate surrounding its associated uncertainty and expanded use.

Original languageEnglish (US)
Pages (from-to)519-531
Number of pages13
JournalClinics in Laboratory Medicine
Issue number3
StatePublished - Sep 2010
Externally publishedYes


  • Embryo biopsy
  • Embryo research
  • In vitro fertilization
  • Preimplantation genetic diagnosis
  • Preimplantation genetic screening
  • Preimplantation genetic testing

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical


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