An American team conducted a two-year pilot study in several New York hospitals to assess the feasibility and benefits of newborn screening for Duchenne muscular dystrophy (DMD):
- 36,781 newborns were included in this study after parental consent.
- Initially, their blood samples were tested for creatine kinase (CK).
- 24 boys and 17 girls showed elevated levels of CK. Their parents were referred for genetic counselling and offered infant genetic screening.
- this consisted of an analysis of deletion/duplication mutations and next-generation sequencing of the DMD gene or other genes involved in other neuromuscular diseases if no abnormalities were found.
- In the end, 4 boys were diagnosed with DMD or Becker muscular dystrophy and one girl was a carrier of a DMD gene anomaly.
Early diagnosis paves the way for pre-symptomatic treatment of affected infants, which argues in favour of widespread screening.
