Early lessons from newborn mass screening for DMD in Taiwan

The Taiwanese health authorities have launched a newborn screening program for Duchenne muscular dystrophy (DMD) starting with the region of Taipei. Approximately 50,000 newborns have been tested since February 2021 using a CPKEnzyme contenue dans les cellules musculaires, qui est libérée dans le sang en cas d’atteinte musculaire. assay performed on blotters in the first days of life. In case of a positive result, a NGS (next-generation sequencing) study was requested. From the analysis of the results, it appears that :

• CPKs clearly tend to normalize after a few days or weeks,
• the genetic study in NGS allowed to formally confirm a DMD in three children,
• the calculated incidence (1:8710 male births) is therefore very low compared to the theoretical incidence (1:3500).

Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Chien YH, Lee NC, Weng WC et al. Neurol Sci. 2022 Jul;43(7):4563-4566.