Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
5q-SMA
SMA treatment
Spinal muscular atrophy
newborn screening
Journal
Journal of neuromuscular diseases
ISSN: 2214-3602
Titre abrégé: J Neuromuscul Dis
Pays: Netherlands
ID NLM: 101649948
Informations de publication
Date de publication:
2023
2023
Historique:
pubmed:
5
12
2022
medline:
11
1
2023
entrez:
4
12
2022
Statut:
ppublish
Résumé
Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide 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.
Identifiants
pubmed: 36463459
pii: JND221577
doi: 10.3233/JND-221577
pmc: PMC9881029
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
55-65Références
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