Experience with screening newborns for Duchenne muscular dystrophy in Wales. Issue 6874 (6th February 1993)

• Record Type: Journal Article
• Authors: Bradley, D M; Parsons, E P; Clarke, A J
• Is Part Of: BMJ. Volume 306:Issue 6874(1993)
• Page Start: 357
• Page End: 360
• Publication Date: 1993-02-06
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Periodicals; 610
• DOI: 10.1136/bmj.306.6874.357
• Languages: English
• ISSNs: 0007-1447

Abstract

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.