Abstract:
OBJECTIVES: To determine knowledge about four genetic disorders (Down's syndrome (DS), haemophilia (haem), spinal muscular atrophy type 1 (SMA1) and Huntington's disease (HD)), attitudes towards counselling, acceptability of prenatal diagnosis and termination of pregnancies affected with these conditions. DESIGN: Questionnaire survey of a cohort of medical students and newly qualified doctors. SETTING: Faculty of Medicine, University of Ruhuna. RESULTS: 227 completed questionnaires (111 fourth year and 86 final year students, and 30 demonstrators) were analysed. Awareness of DS and haem, was higher than of SMA1 and HD, and was highest among the demonstrators. Over 80 percent of the cohort would not counsel directively about future pregnancies and would discuss the diseases with the family or at risk individuals. Prenatal diagnosis was found acceptable for DS, haem and SMA1 by a majority of the cohort. Attitudes to termination of affected pregnancies varied, 88 percent, 77 percent, 55 percent and 36 percent finding it acceptable for DS, SMA1, haem, and HD respectively, provided legal terminations were available and termination was requested by parents. CONCLUSIONS: This cohort of students and doctors appear to accept the principles of clinical genetics involving non-directive counselling, prenatal diagnosis and in some disorders, termination of pregnancy