title: Reproductive decision making before and after predictive testing for Huntington's disease: an Australian perspective.
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.
authors.affiliation: Department of Clinical Genetics, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. fionar@chw.edu.au
authors.forename: F H
authors.initials: FH
authors.lastname: Richards
authors.forename: G
authors.initials: G
authors.lastname: Rea
mesh_terms: D000028:Abortion, Induced; D000293:Adolescent; D000328:Adult; D001315:Australia; D015331:Cohort Studies; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*; D027724:Reproductive Techniques, Assisted / Q000706:statistics & numerical data; D012189:Retrospective Studies