At the 270th ENMC International Workshop, which took place from 10 – 12th of March 2023 in the Netherlands, participants agreed to determine a standard operating procedure for SMN2 gene copy number determination and a specific workflow for diagnosis and management of SMA patients identified in neonatal screening as well as to engage collaborative efforts for the creation of a European network to address discrepancies among expert centres.

Listen to the latest episode of EURORDIS’ new podcast on newborn screening featuring Kirsten Johnson, chair of both the Fragile X Society in the UK and Fragile X International, and Gulcin Gumus, Research and Policy Project Manager at EURORDIS.

Listen to the webinar SMA Europe organised on the new NBS patient advocacy toolkit.

• The SMA NBS Alliance’s objective is for 100% of babies born in Europe to be screened for SMA by 2025.
• SMA Europe estimates that 25% of newborn babies in the EU were screened for SMA at the end of 2021.
• By the end of 2022, SMA Europe estimates 45% of newborns born in Europe will be screened for SMA. 40% considering the European continent including Russia and Turkey.