Duchenne muscular dystrophy: issues in expanding newborn screening

Abstract

To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne muscular dystrophy. There is a wide range in the reported positive predictive value for screening male newborns for Duchenne muscular dystrophy by the creatine kinase level on dried blood spots. Some parental anxiety is associated with both early detection and false-positive screening results. No data are available about the impact of the diagnosis on the child, including the impact of early initiation of therapy. Studies suggest that few parents change their future reproductive planning based on identification of Duchenne muscular dystrophy through screening. Few data are available regarding the cost of newborn screening for Duchenne muscular dystrophy, and there are insufficient data to evaluate the cost-effectiveness of Duchenne muscular dystrophy screening. Available data are insufficient to recommend routine newborn screening for Duchenne muscular dystrophy. Understanding the gaps in knowledge provides insight into the evidence needed to recommend newborn screening for Duchenne muscular dystrophy. Studies are needed to evaluate the potential risks and benefits of screening, including the associated incremental costs.