Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

Nowthat targeted therapies for spinal muscular atrophy are available, attempts are being madeworldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing.

Automated summary

With the availability of targeted therapies for spinal muscular atrophy, efforts are being made worldwide to incorporate screening for this condition in general newborn screening. In Germany, after pilot projects from 2018-2021, spinal muscular atrophy screening was included in the general newborn screening from October 2021. Criteria for follow-up were developed in collaboration with key stakeholders to ensure a smooth transition. Although there were initial false positive findings during the transition, they were subsequently resolved through optimization of the screening method in the laboratories involved. The timing of diagnosis and therapy initiation did not significantly differ from the pilot project.