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. 1993 Feb 6;306(6874):357–360. doi: 10.1136/bmj.306.6874.357

Experience with screening newborns for Duchenne muscular dystrophy in Wales.

D M Bradley 1, E P Parsons 1, A J Clarke 1
PMCID: PMC1676471  PMID: 8461680

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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