Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder.
• Early identification via newborn screening (NBS) is crucial due to emerging therapies.
• Screening for creatine kinase (CK) using dried blood spots (DBSs) is being explored for DMD detection.

Purpose of the Study:

• To determine the analytical and clinical validity of CK-MM screening for DMD risk in newborns.
• To assess the prevalence of DMD in Zhejiang, China, through NBS.
• To evaluate the performance of a prototype Genetic Screening Platform (GSP) assay.

Main Methods:

• A cohort of 42,862 male infants underwent DBS collection for routine NBS.
• Elevated CK-MM levels were tested using a prototype GSP Neonatal CK-MM assay.
• Infants with elevated CK-MM were followed up with serum CK testing and next-generation sequencing (NGS).

Main Results:

• 11 infants were diagnosed with DMD or Becker muscular dystrophy (BMD).
• A CK-MM cutoff of >700 ng/mL identified all confirmed cases.
• The study provided preliminary performance data for the CK-MM assay in NBS for DMD.

Conclusions:

• The CK-MM assay demonstrates potential for clinical application in NBS for DMD.
• Early detection through NBS can facilitate timely intervention for DMD.
• Further validation is needed to confirm the assay's detection efficiency.