EXPERIENCE WITH SCREENING NEWBORNS FOR DUCHENNE MUSCULAR-DYSTROPHY IN WALES

Objectives-To assess the acceptability of screening newborn boys for Duchenne muscular dystrophy. Design-Screening is offered on the basis of informed consent in response to an information sheet entitled ''A new test for baby boys-Do you want it?'' The programme includes a prospective long term evaluation of family responses to early diagnosis and a comparison of their experiences and perceptions with those families who have undergone the later traditional clinical diagnosis. Setting-All maternity units throughout Wales. Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism. Subjects-Those families whose son had a positive screening test. Main outcome measures-Creatine kinase activity. Venous blood test to confirm positive result. Molecular genetic mutation analysis. Muscle biopsy and dystrophin analysis. Qualitative measure of satisfaction among affected families. Results-34219 Boys have been screened and nine affected families have been identified. Eight families were very positive about the programme. Three chose not to complete the diagnostic process. Conclusion-The programme should continue to permit a full evaluation of the issues involved and should serve as a model for other initiatives within the community for genetic disease.