Promising results on newborn testing for Duchenne muscular dystrophy indicate that widespread screening could become routinely available. Nevertheless, newborn testing raises ethical, social and scientific concerns that need careful consideration to maximize benefit for patients, their families and health-care providers.
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References
Mendell, J. R. et al. Evidence based path to newborn screening for Duchenne muscular dystrophy. Ann. Neurol. http://dx.doi.org/10.1002/ana.23528.
Bowman, J. E. Screening newborn infants for Duchenne Muscular dystrophy. BMJ 306, 349 (1993).
Parsons, E. P., Bradley, D. M. & Clarke, A. J. Newborn screening for Duchenne muscular dystrophy. Arch. Dis. Child. 88, 91–92 (2003).
Elliman, D. A., Dezateux, C. & Bedford, H. E. Newborn and childhood screening programmes: criteria, evidence, and current policy. Arch. Dis. Child. 87, 6–9 (2002).
Kemper, A. R. & Wake, M. A. Duchenne muscular dystrophy: issues in expanding newborn screening. Curr. Opin. Pediatr. 19, 700–704 (2007).
Moxley, R. T. 3rd, Pandya, S., Ciafaloni, E., Fox, D. J. & Campbell, K. Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management. J. Child. Neurol. 25, 1116–1129 (2010).
Hennekam, R. C. Care for patients with ultra-rare disorders. Eur. J. Med. Genet. 54, 220–224 (2011).
Campbell, E. & Ross, L. F. Parental attitudes regarding newborn screening of PKU and DMD. Am. J. Med. Genet. A. 120A, 209–214 (2003).
Pollitt, R. J. New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved. Acta Paediatr. 99, 1766–1772 (2010).
Elliman, D. Ethical aspects of the expansion of neonatal screening programme due to technological advances. Clin. Chem. Lab. Med. http://dx.doi.org/10.1515/cclm.2011.761s
Acknowledgements
A. Ferlini is supported by the Telethon Italy Foundation, the BIO-NMD project, the TREAT-NMD Network of Excellence and the Duchenne Parent Project Italy.
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Ferlini, A. Muscular dystrophy—something new on God's green earth?. Nat Rev Neurol 8, 247–249 (2012). https://doi.org/10.1038/nrneurol.2012.41
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DOI: https://doi.org/10.1038/nrneurol.2012.41
