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Review
. 2023;10(1):15-28.
doi: 10.3233/JND-221535.

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

Michelle A Farrar  1   2 , Didu Kariyawasam  1   2 , Sarah Grattan  1   2 , Klair Bayley  3 , Mark Davis  4 , Sandra Holland  1   2 , Leigh B Waddel  5   6   7 , Kristi Jones  5 , Michelle Lorentzos  8   6   7 , Anja Ravine  9 , Tiffany Wotton  9 , Veronica Wiley  9 ; DMD NBS Working Group
Affiliations
Review

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy

Michelle A Farrar et al. J Neuromuscul Dis. 2023.

Abstract

A pilot newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) study proposes to assess the feasibility of the screening procedure, temporal course of the various steps of screening, and the public acceptability of the program. This is particularly vital to ascertain as DMD is considered a 'non-treatable' disease and thus does not fit the traditional criteria for newborn screening. However, modern perspectives of NBS for DMD are changing and point to possible net benefits for children and their families undertaking NBS for DMD. The aim of this workshop was to establish pathways for the successful implementation and evaluation of a pilot NBS for DMD program in Australia. Consensus was reached as to the rationale for, potential benefits, risks, barriers and facilitators of screening, alongside the establishment of screening protocols and clinical referral pathways.

Keywords: Duchenne muscular dystrophy; implementation; newborn screening; presymptomatic; translation.

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Conflict of interest statement

The authors declare no potential conflicts of interest with respect to the research, authorship, or publication of this article.

Figures

Fig. 1
Fig. 1
Pilot newborn screening pathway for Duchenne muscular dystrophy.
Fig. 2
Fig. 2
Estimated cost analysis for the screening and diagnostic pathway for Duchenne muscular dystrophy over the course of the two-year pilot program. Costs are based on prior annual newborn screening numbers across NSW/ACT. DMD = Duchenne muscular dystrophy, DBS = Dried blood spot.
See this image and copyright information in PMC

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