Research Article

Experience with screening newborns for Duchenne muscular dystrophy in Wales.

BMJ 1993; 306 doi: http://dx.doi.org/10.1136/bmj.306.6874.357 (Published 06 February 1993) Cite this as: BMJ 1993;306:357
  1. D M Bradley,
  2. E P Parsons,
  3. A J Clarke
  1. Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.

    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.