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Review
. 2022 Feb;93(2):135-141.
doi: 10.1007/s00115-021-01204-y. Epub 2021 Oct 15.

[Newborn screening program for spinal muscular atrophy]

[Article in German]
Heike Kölbel  1 , Katharina Vill  2 , Oliver Schwartz  3 , Astrid Blaschek  2 , Uta Nennstiel  4 , Ulrike Schara-Schmidt  5 , Georg F Hoffmann  6 , Dieter Gläser  7 , Wulf Röschinger  8 , Günther Bernert  9 , Andrea Klein  10   11 , Wolfgang Müller-Felber  2
Affiliations
Review

[Newborn screening program for spinal muscular atrophy]

[Article in German]
Heike Kölbel et al. Nervenarzt. 2022 Feb.

Abstract
in English, German

Background: The introduction of a comprehensive newborn screening program for spinal muscular atrophy (SMA), specifically for 5q-SMA, is planned for the end of 2021 in Germany. Several targeted treatment options have become available for all patients with SMA.

Material and methods: Newborn screening for 5q-SMA is based on the detection of a homozygous deletion of exon 7 in the SMN1 gene by molecular genetic analysis from the dried blood card. In all cases a second blood sample must be drawn as a part of confirmation diagnostics including the determination of the SMN2 copy numbers.

Results: Insights from pilot projects performed in parts of Germany are presented. Advantages and disadvantages of the screening project are discussed.

Conclusion: Consultation and treatment should be carried out in a department of neuropediatrics with experience in the treatment of children with 5q-SMA, which is able to provide all current treatment options for the child, so that, when necessary, the treatment can be started within the first month of life.

Zusammenfassung: HINTERGRUND: Zum Ende des Jahres 2021 ist die Einführung eines flächendeckenden Neugeborenenscreeningprogramms für die spinale Muskelatrophie (SMA), spezifisch 5q-SMA, in Deutschland geplant, da inzwischen mehrere gezielte Behandlungsmöglichkeiten existieren.

Material und methoden: Das Neugeborenenscreening auf 5q-SMA basiert auf dem Nachweis einer homozygoten Deletion von Exon 7 im SMN1-Gen durch eine molekulargenetische Analyse aus der Trockenblutkarte. In allen Fällen muss eine Konfirmationsdiagnostik mittels einer zweiten Blutprobe mit Bestimmung der SMN2-Kopien-Zahl durchgeführt werden.

Ergebnisse: Erfahrungen aus den bisher in Teilen Deutschlands durchgeführten Pilotprojekten werden dargestellt, Vor- und Nachteile von Screeningprojekten werden diskutiert.

Schlussfolgerungen: Die weitere Beratung und Therapie sollten in einer Abteilung für Neuropädiatrie mit Erfahrung in der Betreuung von Kindern mit 5q-SMA erfolgen, die alle aktuellen Behandlungsoptionen für das Kind anbieten kann, damit diese wenn nötig innerhalb des ersten Lebensmonats starten kann.

Keywords: 5q-SMA; Confirmation diagnostics; Presymptomatic treatment; SMN protein; SMN2 copy number.

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References

Literatur

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