Experiences of parents who receive a false-positive CK-MM screening for their newborn.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a rare inherited, X-linked neuromuscular disorder that leads to a progressive decline in physical mobility, muscle atrophy, and premature death. Newborn screening (NBS) offers the potential for earlier diagnosis and earlier intervention, although NBS using the creatine kinase isoenzyme (CK-MM) assay may detect conditions other than DMD and lead to initial false-positive results. Early Check, a voluntary supplemental newborn screening study in North Carolina, screened 16,566 newborns for DMD over nearly 3 years. Parents and legal guardians of infants who received an initial false-positive screen result for DMD (n = 20) were interviewed about their experiences. Data were coded in NVivo using directed content analysis. Participants described feelings of st

SUBMITTER: Tzeng JP 

PROVIDER: S-EPMC12798709 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature