Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening
Аутори
Brkušanin, MilošGarai, Nemanja
Karanović, Jelena
Tričković, Matija
Nikolić, Dimitrije
Šljivančanin Jakovljević, Tamara
Dimitrijević, Aleksandra
Busarać, Ana
Jovanović, Kristina
Savić-Pavicević, Dušanka
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the medical and ethical significance of newborn screening.
In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. In the subsequent year, we expanded the initiative to include another maternity hospital located outside Belgrade, introducing sample shipment via postal services and extending screening accessibility to a greater number of infants.
In the initial year, 6 950 newborns underwent testing, revealing SMA in two un...related infants. Subsequently, an older sibling of the first newborn, although asymptomatic at the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed in this child as well. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false
negative outcomes among the newborns who tested negative during the screening. In
the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness among all stakeholders about the critical importance of early disease detection. In this transformative journey, we transitioned from being isolated individuals and visionaries who championed a singular idea to an entire community and nation that now acknowledges the paramount significance of newborn screening. As a result, a total of 11 950 infants underwent testing during the 17-month pilot project, culminating in the rapid incorporation of newborn screening for SMA into the national screening program, effective as of September 14th 2023.
Timely detection and treatment can transform SMA into a manageable condition, and there is substantial evidence supporting its inclusion in state-wide screening programs.
Извор:
4th International Congress on Spinal Muscular Atrophy, 2024, 157-157Издавач:
- SMA Europe
Напомена:
- 4th International Congress on Spinal Muscular Atrophy, from 14th to 16th March 2024 in Ghent, Belgium
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Brkušanin, Miloš AU - Garai, Nemanja AU - Karanović, Jelena AU - Tričković, Matija AU - Nikolić, Dimitrije AU - Šljivančanin Jakovljević, Tamara AU - Dimitrijević, Aleksandra AU - Busarać, Ana AU - Jovanović, Kristina AU - Savić-Pavicević, Dušanka PY - 2024 UR - https://ghent2024.sma-europe.eu/ UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2338 AB - Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the medical and ethical significance of newborn screening. In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. In the subsequent year, we expanded the initiative to include another maternity hospital located outside Belgrade, introducing sample shipment via postal services and extending screening accessibility to a greater number of infants. In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated infants. Subsequently, an older sibling of the first newborn, although asymptomatic at the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed in this child as well. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false negative outcomes among the newborns who tested negative during the screening. In the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness among all stakeholders about the critical importance of early disease detection. In this transformative journey, we transitioned from being isolated individuals and visionaries who championed a singular idea to an entire community and nation that now acknowledges the paramount significance of newborn screening. As a result, a total of 11 950 infants underwent testing during the 17-month pilot project, culminating in the rapid incorporation of newborn screening for SMA into the national screening program, effective as of September 14th 2023. Timely detection and treatment can transform SMA into a manageable condition, and there is substantial evidence supporting its inclusion in state-wide screening programs. PB - SMA Europe C3 - 4th International Congress on Spinal Muscular Atrophy T1 - Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening EP - 157 SP - 157 UR - https://hdl.handle.net/21.15107/rcub_imagine_2338 ER -
@conference{ author = "Brkušanin, Miloš and Garai, Nemanja and Karanović, Jelena and Tričković, Matija and Nikolić, Dimitrije and Šljivančanin Jakovljević, Tamara and Dimitrijević, Aleksandra and Busarać, Ana and Jovanović, Kristina and Savić-Pavicević, Dušanka", year = "2024", abstract = "Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the medical and ethical significance of newborn screening. In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. In the subsequent year, we expanded the initiative to include another maternity hospital located outside Belgrade, introducing sample shipment via postal services and extending screening accessibility to a greater number of infants. In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated infants. Subsequently, an older sibling of the first newborn, although asymptomatic at the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed in this child as well. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false negative outcomes among the newborns who tested negative during the screening. In the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness among all stakeholders about the critical importance of early disease detection. In this transformative journey, we transitioned from being isolated individuals and visionaries who championed a singular idea to an entire community and nation that now acknowledges the paramount significance of newborn screening. As a result, a total of 11 950 infants underwent testing during the 17-month pilot project, culminating in the rapid incorporation of newborn screening for SMA into the national screening program, effective as of September 14th 2023. Timely detection and treatment can transform SMA into a manageable condition, and there is substantial evidence supporting its inclusion in state-wide screening programs.", publisher = "SMA Europe", journal = "4th International Congress on Spinal Muscular Atrophy", title = "Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening", pages = "157-157", url = "https://hdl.handle.net/21.15107/rcub_imagine_2338" }
Brkušanin, M., Garai, N., Karanović, J., Tričković, M., Nikolić, D., Šljivančanin Jakovljević, T., Dimitrijević, A., Busarać, A., Jovanović, K.,& Savić-Pavicević, D.. (2024). Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening. in 4th International Congress on Spinal Muscular Atrophy SMA Europe., 157-157. https://hdl.handle.net/21.15107/rcub_imagine_2338
Brkušanin M, Garai N, Karanović J, Tričković M, Nikolić D, Šljivančanin Jakovljević T, Dimitrijević A, Busarać A, Jovanović K, Savić-Pavicević D. Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening. in 4th International Congress on Spinal Muscular Atrophy. 2024;:157-157. https://hdl.handle.net/21.15107/rcub_imagine_2338 .
Brkušanin, Miloš, Garai, Nemanja, Karanović, Jelena, Tričković, Matija, Nikolić, Dimitrije, Šljivančanin Jakovljević, Tamara, Dimitrijević, Aleksandra, Busarać, Ana, Jovanović, Kristina, Savić-Pavicević, Dušanka, "Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening" in 4th International Congress on Spinal Muscular Atrophy (2024):157-157, https://hdl.handle.net/21.15107/rcub_imagine_2338 .