Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Wolfgang Müller-Felber - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Astrid Blaschek - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Oliver Schwartz - , University Hospital Münster (Author)
  • Dieter Gläser - , MVZ Genetikum GmbH, Neu-Ulm (Author)
  • Uta Nennstiel - , Bavarian Health and Food Safety Authority (LGL) (Author)
  • Inken Brockow - , Bavarian Health and Food Safety Authority (LGL) (Author)
  • Brunhilde Wirth - , German Sport University Cologne (Author)
  • Siegfried Burggraf - , Labor Becker und Kollegen (Author)
  • Wulf Röschinger - , Labor Becker und Kollegen (Author)
  • Marc Becker - , Labor Becker und Kollegen (Author)
  • Jürgen Durner - , Labor Becker und Kollegen (Author)
  • Katja Eggermann - , University Hospital Aachen (Author)
  • Heike Kölbel - , University Hospital Essen (Author)
  • Christine Müller - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Iris Hannibal - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)
  • Bernd Olgemöller - , Formerly Labor Becker (Author)
  • Ulrike Schara - , University Hospital Essen (Author)
  • Arpad von Moers - , Department of Child and Adolescent Psychiatry and Psychotherapy (Author)
  • Regina Trollmann - , Friedrich-Alexander University Erlangen-Nürnberg (Author)
  • Jessika Johannssen - , University Hospital Hamburg Eppendorf (Author)
  • Andreas Ziegler - , University Hospital Heidelberg (Author)
  • Sebahattin Cirak - , Ulm University (Author)
  • Andreas Hahn - , Hospital de Basurto (Author)
  • Maja von der Hagen - , Department of Paediatrics, Division of Neuropediatrics (Author)
  • Claudia Weiss - , Charité – Universitätsmedizin Berlin (Author)
  • Gudrun Schreiber - , Charité – Universitätsmedizin Berlin (Author)
  • Marina Flotats-Bastardas - , University Hospital of Saarland (Author)
  • Hans Hartmann - , Hannover Medical School (MHH) (Author)
  • Sabine Illsinger - , Hannover Medical School (MHH) (Author)
  • Astrid Pechmann - , Medical Faculty Carl Gustav Carus (Author)
  • Veronka Horber - , University Children's Hospital Zurich (Author)
  • Jan Kirschner - , Medical Faculty Carl Gustav Carus (Author)
  • Cornelia Köhler - , Ruhr University Bochum (Author)
  • Benedikt Winter - , Universitätsmedizin Mannheim (Author)
  • Johannes Friese - , University of Bonn Medical Center (Author)
  • Katharina Vill - , Hospital of the Ludwig-Maximilians-University (LMU) Munich (Author)

Abstract

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.

Details

Original languageEnglish
Pages (from-to)55-65
Number of pages11
JournalJournal of neuromuscular diseases
Volume10
Issue number1
Publication statusPublished - 2023
Peer-reviewedYes

External IDs

PubMedCentral PMC9881029
Scopus 85145954611

Keywords

Keywords

  • Infant, Newborn, Humans, Pilot Projects, Muscular Atrophy, Spinal/diagnosis, Neonatal Screening/methods, Germany, Time

Library keywords