Preimplantation genetic diagnosis for Huntington's disease with exclusion testing

Eur J Hum Genet. 2002 Oct;10(10):591-8. doi: 10.1038/sj.ejhg.5200865.


Huntington's disease is an autosomal dominant, late-onset disorder, for which the gene and the causative mutation have been known since 1993. Some at-risk patients choose for presymptomatic testing and can make reproductive choices accordingly. Others however, prefer not to know their carrier status, but may still wish to prevent the birth of a carrier child. For these patients, exclusion testing after prenatal sampling has been an option for many years. A disadvantage of this test is that unaffected pregnancies may be terminated if the parent at risk (50%) has not inherited the grandparental Huntington gene, leading to serious moral and ethical objections. As an alternative, preimplantation genetic diagnosis (PGD) on embryos obtained in vitro may be proposed, after which only embryos free of risk are replaced. Embryos can then be selected, either by the amplification of the CAG repeat in the embryos without communicating results to the patients (ie non-disclosure testing), which brings its own practical and moral problems, or exclusion testing. We describe here the first PGD cycles for exclusion testing for Huntington's disease in five couples. Three couples have had at least one PGD cycle so far. One pregnancy ensued and a healthy female baby was delivered.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • In Vitro Techniques
  • Male
  • Pedigree
  • Preimplantation Diagnosis*