Preimplantation genetic diagnosis

Nat Rev Genet. 2002 Dec;3(12):941-53. doi: 10.1038/nrg953.


Preimplantation genetic diagnosis (PGD) is an evolving technique that provides a practical alternative to prenatal diagnosis and termination of pregnancy for couples who are at substantial risk of transmitting a serious genetic disorder to their offspring. Samples for genetic testing are obtained from oocytes or cleaving embryos after in vitro fertilization. Only embryos that are shown to be free of the genetic disorders are made available for replacement in the uterus, in the hope of establishing a pregnancy. PGD has provided unique insights into aspects of reproductive genetics and early human development, but has also raised important new ethical issues about assisted human reproduction.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Biopsy, Needle
  • Cleavage Stage, Ovum / pathology
  • Female
  • Forecasting
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Oocytes / metabolism
  • Pregnancy
  • Preimplantation Diagnosis* / ethics
  • Preimplantation Diagnosis* / methods
  • Preimplantation Diagnosis* / trends
  • Risk Assessment
  • Translocation, Genetic