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Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Norma P Tavakoli1,2, Dorota Gruber3,4, Niki Armstrong5
1Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Annals of Clinical and Translational Neurology
|June 23, 2023
Summary
New York State
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Duchenne muscular dystrophy (DMD) is a severe X-linked disorder causing progressive muscle weakness.
- Cardiomyopathy and cardiorespiratory impairment are late-stage complications.
- Expanding treatment options necessitate early diagnosis.
Purpose of the Study:
- To evaluate the feasibility of newborn screening (NBS) for DMD in New York State.
- To assess the clinical utility of early, pre-symptomatic diagnosis of DMD.
- To integrate DMD screening into existing NBS infrastructure.
Main Methods:
- A pilot study screened 36,781 newborns using creatine kinase-MM (CK-MM) levels in dried blood spots.
- Elevated CK-MM triggered genetic counseling and testing, including deletion/duplication analysis and next-generation sequencing (NGS) of the DMD gene.
- Further NGS panels were used if no DMD variants were found.
Main Results:
- Forty-two newborns were screen positive.
- Four male infants were diagnosed with DMD or Becker muscular dystrophy.
- One female DMD carrier was identified.
Conclusions:
- New York State's NBS infrastructure and screening technologies are feasible for DMD.
- Early identification of DMD through NBS offers significant clinical utility for affected newborns and families.
- Support for statewide NBS for DMD is strengthened by the study's findings.
