Treatable yet rare diseases that are often only recognised when the symptoms are pronounced, must be diagnosed at birth in order to give every newborn the best possible chance of the best possible future. Because every life counts.
Newborn screening is already standard in Switzerland and enables every newborn to be tested for selected developmental, genetic and metabolic disorders. So far,
Thanks to newborn screening, these diseases can be detected shortly after birth using state-of-the-art methods. This also applies to the rare disease spinal muscular atrophy (SMA), which will also be included in the newborn screening programme from spring this year.
With the inclusion of SMA in newborn screening, we, as one of the European taillights, are finally seizing the opportunity to test every newborn for SMA. Early detection opens up the best opportunities for treatment. With the medication available today, the individual condition can be stabilised. The earlier SMA is recognised and treated, the better the prospects of a long, self-determined life.
Screening only requires a few drops of blood, which are taken from the child's heel on the third or fourth day after birth. The sample is then sent to a laboratory where it is analysed for the selected diseases.
Spinal muscular atrophy (SMA) is a rare, hereditary, neuromuscular disease that can lead to muscle weakness and, depending on its severity, to impairments in other areas of the body. Worldwide, around 1 in 10,000 newborns is affected by SMA¹, which corresponds to 10 to 12 newly diagnosed infants per year in Switzerland. It is estimated that there are currently 160 patients with SMA in Switzerland.
References
Verhaart IEC et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis 2017;12:124