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.

journal_name

BMJ

authors

Bradley DM,Parsons EP,Clarke AJ

doi

10.1136/bmj.306.6874.357

subject

Has Abstract

pub_date

1993-02-06 00:00:00

pages

357-60

issue

6874

eissn

0959-8138

issn

1756-1833

journal_volume

306

pub_type

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