Preimplantation genetic diagnosis

Curr Opin Obstet Gynecol. 2000 Apr;12(2):67-72. doi: 10.1097/00001703-200004000-00002.


Embryo biopsy for preimplantation genetic diagnosis can be performed on the oocyte/zygote, cleavage stage embryo, or blastocyst, but the majority of centres perform cleavage stage biopsy. Single-cell diagnosis is undertaken by the polymerase chain reaction or fluorescent in-situ hybridization. Technical difficulties have arisen with preimplantation genetic diagnosis, such as allele dropout and chromosomal mosaicism. However, it is hoped that these difficulties can be overcome in the future with the advent of new techniques.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations / diagnosis*
  • Chromosome Disorders
  • Ethics, Medical
  • Female
  • Humans
  • Mosaicism
  • Pregnancy
  • Preimplantation Diagnosis* / methods