Every year, millions of newborn babies around the world have a few drops of blood taken from their heel to screen for a number of rare conditions. Carried out within a few days of birth, the screening is designed to identify conditions for which a clinical diagnosis may not be possible at such an early stage, but where early detection and treatment can save lives and potentially prevent symptoms of disease from developing.
However, despite spinal muscular atrophy (SMA) meeting World Health Organization criteria for inclusion in newborn screening programmes, in many countries across Europe this is still not the case. Without widespread screening for SMA at birth, the chance of early diagnosis is missed and the potential to introduce the best possible medical care with the aim of preventing the disease is lost.
In 2020, SMA newborn screening programmes were few and far between. Only a few local pilots were ongoing in Belgium, Germany and Italy.1 The
In 2021, the Alliance published its foundational whitepaper, outlining the need to include SMA in newborn screening programmes in all European countries by 2025.2
Urging policymakers to take action and include a test for SMA at birth1 has resulted in a 20% increase in nationwide and regional screening across Europe in just one year - in 2022, 45% of children born in Europe were screened for SMA at birth, compared to 25% of newborns screened in 2021.1
While this significant increase in screening is encouraging, more still needs to be done to give these very vulnerable babies the best chance at life. You can use
Newborn screening for SMA can be done cost effectively for approximately 3-5 euros per child. With treatments available, these costs are economically balanced when compared to the cost of managing SMA that has not been diagnosed early and has progressed.2
The results of a pilot trial in Germany, which started in 2018, further supports the case for newborn screening of SMA. Out of the 297,000 babies screened in the first two years of the trial, 43 newborns were identified as having SMA. The study found that identification of newborns with SMA and prompt SMA-specific treatment substantially improved neurodevelopmental outcomes, as long as the time interval between positive testing and referral to therapy-ready specialised treatment centres is short.4
As a founding member of the Alliance, which also includes European patient organisations, academics and other members of the pharmaceutical industry, Roche is proud to be part of this committed group helping to bridge the gap, and advocate for the needs of the SMA community.
SMA NBS Alliance. SMA NBS Alliance Annual Report 2022. Published Dec 2022. Available at:
European Alliance for Newborn Screening in SMA: Spinal muscular atrophy: screen at birth, save lives (version 2, 25 November 2021). Available at:
SMA NBS Alliance. Progress of newborn screening for SMA in Europe. Available at:
Vill K, et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis. 2021;16:153.