Reproductive decision making before and after predictive testing for Huntington's disease: an Australian perspective

Clin Genet. 2005 May;67(5):404-11. doi: 10.1111/j.1399-0004.2005.00428.x.

Abstract

A retrospective study examined both pre- and post-result reproductive decision making for 281 people at risk for Huntington's disease aged 18-45 years who had undergone predictive testing in one centre in Australia between 1990 and 2002. Forty-eight per cent of subjects had one or more pre-result pregnancies, and of these, three had prenatal linkage testing. One high-risk (50%) pregnancy was terminated. Four couples chose an alternative reproductive option. Following testing, data were available for 231 subjects, and no significant difference was found between mutation carriers and non-carriers in the occurrence of post-result pregnancies. This contrasts with the finding of a recent European study, although the outcome of the present study may have been influenced by loss of follow-up data for 50 subjects. Five carriers (17%) had a total of six prenatal tests. Four showed a carrier result and these pregnancies were terminated. Two carriers utilized an alternative reproductive option (donor insemination and pre-implantation genetic diagnosis). The results of this study confirm previous findings of a low uptake of prenatal testing and alternative reproductive options by people at risk for Huntington's disease undergoing predictive testing.

MeSH terms

  • Abortion, Induced
  • Adolescent
  • Adult
  • Australia
  • Cohort Studies
  • Decision Making*
  • Female
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Humans
  • Huntington Disease / genetics*
  • Male
  • Middle Aged
  • Pregnancy
  • Prenatal Diagnosis / statistics & numerical data*
  • Reproductive Techniques, Assisted / statistics & numerical data
  • Retrospective Studies