| Autor: |
Brkušanin M; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia., Garai N; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia., Karanović J; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia., Šljivančanin Jakovljević T; Department of Neonatology, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia., Dimitrijević A; Department of Gynecology and Obstetrics, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.; Gynaecology and Obstetrics Clinic, Clinical Centre of Kragujevac, 34000 Kragujevac, Serbia., Jovanović K; Neurology Department, University Children's Hospital, 11000 Belgrade, Serbia., Mitrović TL; Department of Neonatology, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia., Miković Ž; High-Risk Pregnancy Unit, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia., Brajušković G; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia., Nikolić DM; Neurology Department, University Children's Hospital, 11000 Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia., Savić-Pavićević D; Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia. |
| Abstrakt: |
Innovative treatments for spinal muscular atrophy (SMA) yield the utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening (NBS). We aimed to establish statewide NBS for SMA in Serbia. Our stepwise implementation process involved technical validation of a screening assay, collaboration with patient organizations and medical professionals, a feasibility study, and negotiation with public health representatives. Over 12,000 newborns were tested during the 17-month feasibility study, revealing two unrelated SMA infants and one older sibling. All three children received therapeutic interventions during the presymptomatic phase and have shown no signs of SMA. No false-negative results were found among the negative test results. As frontrunners in this field in Serbia, we established screening and diagnostic algorithms and follow-up protocols and raised awareness among stakeholders about the importance of early disease detection, leading to the incorporation of NBS for SMA into the national program on 15 September 2023. Since then, 54,393 newborns have been tested, identifying six SMA cases and enabling timely treatment. Our study demonstrates that effective collaborations between academia, non-profit organizations, and industry are crucial in bringing innovative healthcare initiatives to fruition, and highlights the potential of NBS to revolutionize healthcare outcomes for presymptomatic SMA infants and their families. |
