A Evaluation of the feasibility of implementing neonatal screening for Duchenne muscular dystrophy in the state of Mato Grosso, Brazil
DOI:
https://doi.org/10.11606/issn.2176-7262.rmrp.2025.213843Keywords:
Duchenne Muscular Dystrophy, Neonatal screening, Viability studies, Health AssessmentAbstract
The aim of this study was to evaluate the feasibility of a non-mandatory neonatal screening program for Duchenne Muscular Dystrophy, in the state of Mato Grosso. A systematic review evaluated the accuracy of creatine kinase for the proposed screening. Evidence syntheses sought to identify treatment. Acceptance of the test was determined by interviewing parents. A budget impact was carried out, investigation of future opportunities, threats was conducted involving screening tests and a panel of experts discussed the results. The systematic review included 11 real-life studies and pointed to good test accuracy. With important limitations, a single study found that glucocorticoids were well tolerated and could improve motor scores. Neonatal screening does not seem to result in significant psychosocial harm to the screened families and was well accepted by the interviewed parents (94.5%). The cost per detected case was BRL 37,989.65/year and the budget impact of BRL 79,783.61 to R$186,161.75 from the first to the fifth year. The intervention is low cost and proved to be accurate for screening. However, the screening program was considered not feasible due to logistical reasons; absence of specific treatment for screened individuals and identification of creatine kinase test of two monomers B in the monitoring of the technological horizon.
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