Type 2 spinocerebellar ataxia: acceptance of prenatal diagnosis in descendents at risk

Type 2 spinocerebellar ataxia is a hereditary degenerative disorder of the nervous system. Advances in molecular genetics have made it possible to carry out presymptomatic and prenatal studies. A programme to define the strategies and principles for doing this has been devised. To find the level of acceptance of prenatal diagnosis in couples at risk, and to determine the effect of different variables on this acceptance. We made a descriptive type study of a series of cases. The study group included 226 persons. Forty of these were couples of descendents and the remainder were asymptomatic descendents. We applied a questionnaire, after prior information as to the aims of the study and obtaining the consent of the participants. Regarding acceptance of prenatal diagnosis by couples of descendents, we found that most (77.5%) accepted this and only 2.5% did not. Prenatal diagnosis was accepted by 67.74% of the descendents themselves. In general there was a high level of acceptance. 159 of the 226 questioned claimed that they would like to have more children and 98.7% of these accepted the test, whilst only 0.01% refused it. The main reasons given were the hope of having healthy children and that the disease would not occur in future generations.