Newborn screening may save lives

Newborn screening is already standard in Switzerland and enables every newborn to be tested for selected developmental, genetic and metabolic disorders. So far,have been included in the screening programme in Switzerland. These diseases can hardly be detected clinically at birth without newborn screening, as symptoms often only appear later in infancy.  If left untreated, they can lead to severe damage to various organs, especially the developing brain, or to serious infections. Therefore, it is extremely important to start treatment as early as possible  in order to avoid permanent damage.

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.

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

1. 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