Australia, Belgium, and Germany conducted studies to evaluate the implementation of newborn genetic screening for spinal muscular atrophy (SMA). In Australia, 103,903 newborns were screened, and ten were screened positive to SMA, while genetic information was found in 9/10 of newborns. In the same vein, in Belgium, following a pilot study started in 2018, and that will last three years, 35, 000 newborns have been screened and 5 of them addressed to appropriate centers for early treatment. And finally, in Germany, in a similar study conducted from January 2018 to February 2019, 165,525 babies were screened and 22 cases of SMA reported. In conclusion, SMA newborn screening allows early diagnosis of newborns SMA cases and early access to treatment.
(source: OrphaNews May 29, 2020)