Experience with screening newborns for Duchenne muscular dystrophy in Wales.
- 6 February 1993
- Vol. 306 (6874), 357-360
- https://doi.org/10.1136/bmj.306.6874.357
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.Keywords
This publication has 13 references indexed in Scilit:
- Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy.Journal of Medical Genetics, 1992
- Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy.BMJ, 1990
- DUCHENNE MUSCULAR DYSTROPHY: NEONATAL SCREENING AND PRENATAL DIAGNOSISThe Lancet, 1989
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987
- Screening for duchenne muscular dystrophy: An improved screening test for creatine kinase and its application in an infant screening programMuscle & Nerve, 1986
- FALSE POSITIVE CREATINE KINASE TEST IN HYPOTHYROID MALE AT RISK FOR DUCHENNE MUSCULAR DYSTROPHYThe Lancet, 1984
- Feasibility of neonatal screening for Duchenne muscular dystrophy.Journal of Medical Genetics, 1982
- MUSCULAR DYSTROPHY SCREENINGThe Lancet, 1978
- CORONARY HEART-DISEASE AFTER TREATMENT OF HYPERTENSIONThe Lancet, 1978
- Newborn Screening for Duchenne Muscular DystrophyPediatrics, 1975