Experience with screening newborns for Duchenne muscular dystrophy in Wales

Abstract

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: 34,219 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.