Duchenne muscular dystrophy: issues in expanding newborn screening

Abstract

PURPOSE OF REVIEW: To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne muscular dystrophy. RECENT FINDINGS: 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 s..