Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

Author:

Müller-Felber Wolfgang1,Blaschek Astrid1,Schwartz Oliver2,Gläser Dieter3,Nennstiel Uta4,Brockow Inken4,Wirth Brunhilde5,Burggraf Siegfried6,Röschinger Wulf6,Becker Marc6,Durner Jürgen67,Eggermann Katja8,Kölbel Heike9,Müller Christine1,Hannibal Iris1,Olgemöller Bernd10,Schara Ulrike9,von Moers Arpad11,Trollmann Regina12,Johannssen Jessika13,Ziegler Andreas14,Cirak Sebahattin15,Hahn Andreas16,von der Hagen Maja17,Weiss Claudia18,Schreiber Gudrun19,Flotats-Bastardas Marina20,Hartmann Hans21,Illsinger Sabine21,Pechmann Astrid22,Horber Veronka23,Kirschner Jan22,Köhler Cornelia24,Winter Benedikt25,Friese Johannes26,Vill Katharina1

Affiliation:

1. Dr. v. Hauner Children’s Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU – University of Munich, Munich, Germany

2. Department of Pediatric Neurology, Muenster University Hospital, Münster, Germany

3. MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany

4. Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany

5. Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany

6. Labor Becker und Kollegen, Munich, Germany

7. Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany

8. Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

9. Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany

10. Formerly Labor Becker, Olgemöller und Kollegen, Munich, Germany

11. Klinik für Kinder- und Jugendmedizin, Neuropädiatrie, DRK Klinikum Westend, Berlin, Germany

12. Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University ofErlangen-Nürnberg, Erlangen, Germany

13. University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany

14. Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

15. Department of Pediatrics, Ulm University, Ulm, Germany

16. Department of Child Neurology, University Hospital, Gießen, Germany

17. Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

18. Department of Pediatric Neurology, Charité–Universitätsmedizin Berlin, Berlin, Germany

19. Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany

20. Department of Pediatric Neurology, University Hospital Homburg, Homburg, Germany

21. Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, OE, Hannover, Germany

22. Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Germany

23. Department of Paediatric Neurology, University Children’s Hospital, Tübingen, Germany

24. Department of Pediatric Neurology, University of Bochum, Bochum, Germany

25. Department of Paediatric Neurology, University hospital Mannheim, Mannheim, Germany

26. Department of Paediatric Neurology, University hospital Bonn, Bonn, Germany

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.

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference31 articles.

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