D M Bradley1, E P Parsons, 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.
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.
Entities:
Keywords:
Empirical Approach; Genetics and Reproduction
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