ArticleTranslational pediatrics2026
Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- CK-MM screening using neonatal dried blood spots may be inadequate at detecting all dystrophin mutation carriers.Translational pediatrics · 2026Article
- Response to: CK-MM screening using neonatal dried blood spots may be inadequate at detecting all dystrophin mutation carriers.Translational pediatrics · 2026Article
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6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Background: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with a worldwide incidence of 1:5,000. The early identification of DMD through newborn screening (NBS) has gained increased attention and interest due to the availability of new therapies. The study aimed to determine the analytical and clinical validity of screening for the muscular isoenzyme form of creatine kinase (CK) to identify newborns at risk for DMD using dried blood spots (DBSs) collected from a routine part of NBS. We also collected data on the prevalence of DMD in newborns in Zhejiang, China. Methods: A closed concurrent cohort study for Duchenne was introduced at The Children's Hospital Zhejiang University School of Medicine, China. Over an eight-month period, DBSs from the 42,862 male infants enrolled in the study were collected and tested for elevated CK using a prototype Genetic Screening Platform (GSP Results: A total of 214 male infants had elevated CK-MM activity >400 ng/mL (~99.5th percentile). Eighty-six percent (184) of infants returned for further testing; 174 infants had normal serum CK, and ten infants had elevated serum CK. DMD was confirmed in eight patients by next-generation sequencing (NGS) of the Conclusions: This study successfully provides preliminary performance data for clinical application of the CK-MM assay as an NBS for DMD.
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