One hundred requests for predictive testing for Huntington's disease

Abstract

In Grampian region, the first 100 requests for predictive testing for Huntington's disease have been analysed. Forty-five presymptomatic predictive test results have been given, eleven families have made a decision to undergo prenatal exclusion tests, and so far eleven pregnancies have been investigated using chorion villus biopsy. This paper presents the protocol used and a descriptive analysis of those receiving results, those choosing to leave the programme, and those unable to complete it because of an unsuitable family structure or unco-operative relatives.