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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Kölbel, Heike; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Köhler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina.
Afiliación
  • Müller-Felber W; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
  • Blaschek A; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
  • Schwartz O; Department of Pediatric Neurology, Muenster University Hospital, Münster, Germany.
  • Gläser D; MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany.
  • Nennstiel U; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany.
  • Brockow I; Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany.
  • Wirth B; Institute of Human Genetics, Center for Molecular Genetics Cologne and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
  • Burggraf S; Labor Becker und Kollegen, Munich, Germany.
  • Röschinger W; Labor Becker und Kollegen, Munich, Germany.
  • Becker M; Labor Becker und Kollegen, Munich, Germany.
  • Durner J; Labor Becker und Kollegen, Munich, Germany.
  • Eggermann K; Department of Operative/Restorative Dentistry, Periodontology and Pedodontics, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Kölbel H; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Müller C; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.
  • Hannibal I; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
  • Olgemöller B; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine, LMU - University of Munich, Munich, Germany.
  • Schara U; Formerly Labor Becker, Olgemöller und Kollegen, Munich, Germany.
  • von Moers A; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.
  • Trollmann R; Klinik für Kinder- und Jugendmedizin, Neuropädiatrie, DRK Klinikum Westend, Berlin, Germany.
  • Johannssen J; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University ofErlangen-Nürnberg, Erlangen, Germany.
  • Ziegler A; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.
  • Cirak S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Hahn A; Department of Pediatrics, Ulm University, Ulm, Germany.
  • von der Hagen M; Department of Child Neurology, University Hospital, Gießen, Germany.
  • Weiss C; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Schreiber G; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Flotats-Bastardas M; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.
  • Hartmann H; Department of Pediatric Neurology, University Hospital Homburg, Homburg, Germany.
  • Illsinger S; Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, OE, Hannover, Germany.
  • Pechmann A; Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, OE, Hannover, Germany.
  • Horber V; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Kirschner J; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.
  • Köhler C; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Winter B; Department of Pediatric Neurology, University of Bochum, Bochum, Germany.
  • Friese J; Department of Paediatric Neurology, University hospital Mannheim, Mannheim, Germany.
  • Vill K; Department of Paediatric Neurology, University hospital Bonn, Bonn, Germany.
J Neuromuscul Dis ; 10(1): 55-65, 2023.
Article en En | MEDLINE | ID: mdl-36463459
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn País/Región como asunto: Europa Idioma: En Revista: J Neuromuscul Dis Año: 2023 Tipo del documento: Article País de afiliación: Alemania