Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker

Lancet. 1987 Jun 6;1(8545):1281-3. doi: 10.1016/s0140-6736(87)90541-1.

Abstract

55 couples where one partner was at 50% risk of Huntington's disease (HD) were investigated with a DNA probe closely linked to HD, with a view to exclusion testing in a future pregnancy. In 3 of 9 pregnancies so far, HD was excluded in the absence of recombination. In 3 the risk was raised to around 50%, and in 2 exclusion tests were uninformative. The remaining couple changed their minds about termination of the pregnancy and the test was therefore judged inappropriate.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chorionic Villi / analysis
  • DNA / analysis*
  • Female
  • Genetic Markers*
  • Haplotypes
  • Humans
  • Huntington Disease / diagnosis*
  • Male
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Risk

Substances

  • Genetic Markers
  • DNA