Current features of preimplantation genetic diagnosis

Reprod Biomed Online. 2002 Nov-Dec;5(3):294-9. doi: 10.1016/s1472-6483(10)61835-4.


More than 4000 preimplantation genetic diagnosis (PGD) cycles have been performed, suggesting that PGD may no longer be considered a research activity. The important present feature of PGD is its expansion to a variety of conditions, which have never been considered as an indication for prenatal diagnosis, including the late-onset disorders with genetic predisposition and preimplantation non-disease testing, with the further improvement of the accuracy of PGD for single gene disorders. PGD has also become a useful tool for the improvement of the effectiveness of IVF, through avoiding the transfer of chromosomally abnormal embryos, representing more than half of the embryos routinely transferred in IVF patients of advanced maternal age and other poor prognosis patients. PGD is of particular hope for the carriers of balanced chromosomal translocations, as it allows accurate pre-selection of a few balanced or normal embryos resulting from the extremely poor meiotic outcome, especially in reciprocal translocations. With the current progress in polymerase chain reaction- (PCR-) based detection of chromosomal abnormalities in oocytes and embryos, PGD may soon be performed for both chromosomal and single gene disorders using the same biopsied polar body or blastomere, frequently required with the currently expanded PGD application. The available clinical outcome data of more than 3000 PGD embryo transfers further suggest an acceptable pregnancy rate and safety of the procedure, as demonstrated by the follow-up information available for more than 500 children born from these PGD transfers.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • DNA Mutational Analysis
  • Female
  • Fertilization in Vitro
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics
  • Histocompatibility Testing
  • Humans
  • Infant, Newborn
  • Male
  • Polymerase Chain Reaction
  • Pregnancy
  • Preimplantation Diagnosis / trends*
  • Reproductive Techniques, Assisted