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. 2024 Jul 16;10(3):50.
doi: 10.3390/ijns10030050.

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

Darija Šimić  1 , Ana Šarić  1 , Ana Škaričić  1 , Ivan Lehman  2 , Branka Bunoza  2 , Ivana Rako  1 , Ksenija Fumić  1
Affiliations

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia

Darija Šimić et al. Int J Neonatal Screen. .

Abstract

Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of SMN1 exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia. The best treatment outcomes occur when therapy is applied before symptoms appear, making newborn screening (NBS) for SMA a crucial factor. Since SMA NBS is the first genetic test performed in our laboratory, for successful implementation of the program, we had to overcome logistical and organizational issues. Herein, we present the results of the SMA NBS during the one-year pilot project in Croatia and verify the suitability of the Targeted qPCR™ SMA assay for SMA NBS. The pilot project started on 1 March 2023 in the Department for Laboratory Diagnostics of the University Hospital Center Zagreb. A total of 32,655 newborns were tested. Five SMA patients were detected, and their diagnoses were confirmed by the multiplex ligation-dependent probe amplification (MLPA) assay. There have been no false positive or false negative results, to our knowledge so far. The incidence of SMA determined during the pilot study is consistent with the SMA incidence data from other European countries.

Keywords: newborn screening; pilot project; spinal muscular atrophy.

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Conflict of interest statement

The authors declare no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

Figures

Figure 1
Figure 1
First-tier test (qPCR) results for SMA NBS: amplification curves for (A) positive SMA screening and (B) negative SMA screening. The pink curves represent the fluorescent signal of FAM fluorophore (SMN1), whereas the blue curves represent the fluorescent signal of HEX fluorophore (endogenous control RPP30).
Figure 2
Figure 2
Dot plot representation of the ratios of FAM to HEX end-point fluorescence for healthy newborns and SMA patients. Values of 32,650 healthy newborns and 5 SMA patients are represented with black and red dots, respectively (GraphPad Prism 8.0.1).
Figure 3
Figure 3
Workflow in SMA NBS.
See this image and copyright information in PMC

References

    1. Mercuri E., Pera M.C., Scoto M., Finkel R., Muntoni F. Spinal muscular atrophy—Insights and challenges in the treatment era. Nat. Rev. Neurol. 2020;16:706–715. doi: 10.1038/s41582-020-00413-4. - DOI - PubMed
    1. Lefebvre S., Bürglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–165. doi: 10.1016/0092-8674(95)90460-3. - DOI - PubMed
    1. Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA. 1999;96:6307–6311. doi: 10.1073/pnas.96.11.6307. - DOI - PMC - PubMed
    1. Dangouloff T., Hiligsmann M., Deconinck N., D’Amico A., Seferian A.M., Boemer F., Servais L. Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Dev. Med. Child Neurol. 2023;65:67–77. doi: 10.1111/dmcn.15286. - DOI - PubMed
    1. SMA NBS Alliance: About Us. [(accessed on 17 May 2024)]. Available online: https://www.sma-screening-alliance.org/about-us.

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