Attitudes of Persons at Risk for Fabry's Disease Towards Predictive Tests and Genetic Counselling

SummaryAdult members of a kindred with various cases of Fabry's disease were asked by questionnaire about their attitudes and behaviour towards prospective genetic counselling. All individuals were aware of the fact that the disease occurred in their family and that it is hereditary, but none had a correct understanding of its inheritance. The disease was considered to be severe and the general attitude was that it should be prevented. Elective abortion after prenatal diagnosis was recommended by the majority, but some would prefer to abstain from having children. Prospective counselling was received positively even though it provoked anxiety in some of the counselled persons. The counselling has so far had the result that two heterozygous females asked for prenatal investigation. But when affected male fetuses were detected after prenatal diagnosis abortion was rejected in both cases. The reasons for this were not considered to be typical. It is concluded that prospective genetic counselling for Fabry's disease should be offered to other families, even though it may be expected that some will choose not to prevent further cases.