Experience with screening newborns for Duchenne muscular dystrophy in Wales.
OBJECTIVE
To assess the acceptability of screening newborn boys for Duchenne muscular dystrophy.


METHODS
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.


METHODS
All maternity units throughout Wales. Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism.


METHODS
Those families whose son had a positive screening test.


METHODS
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.


CONCLUSIONS
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.
Bradley
D M
DM
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
Parsons
E P
EP
Clarke
A J
AJ
D003402:Creatine Kinase / Q000032:analysis; D004247:DNA / Q000032:analysis; D004644:Emotions; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening / Q000458:organization & administration* / Q000706:statistics & numerical data; D010290:Parents / Q000523:psychology; D018570:Risk Assessment; D014852:Wales
D004247:DNA; D003402:Creatine Kinase