Preimplantation genetic diagnosis at 20 years

Prenat Diagn. 2010 Jul;30(7):682-95. doi: 10.1002/pd.2552.


First reported in 1990, PGD has evolved into a complementary form of prenatal diagnosis offering novel indications. DNA for PGD can be recovered with equal safety and facility from polar bodies I and II, blastomere (8 cell embryo) and trophectoderm (5-6 day blastocyst). Diagnostic accuracy is very high (>99%) for both chromosomal abnormalities and single gene disorders. Traditional application of FISH with chromosome specific probes for detecting aneuploidy and translocations may be replaced or complemented by array comparative genome hybridization (array CGH); biopsied embryos can now be cryopreserved (vitrification) while analysis proceeds in orderly fashion. PGD has been accomplished for over 200 different single gene disorders. Novel indications for PGD not readily applicable by traditional prenatal genetic diagnosis include avoiding clinical pregnancy termination, performing preconceptional diagnosis (polar body I), obtaining prenatal diagnosis without disclosure of prenatal genotype (nondisclosure), diagnosing adult-onset disorders particularly cancer, and identifying HLA compatible embryos suitable for recovering umbilical cord blood stem cells.

Publication types

  • Review

MeSH terms

  • Blastomeres / cytology
  • Chromosome Aberrations / embryology
  • DNA / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Pregnancy
  • Preimplantation Diagnosis / methods*


  • DNA