Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period
Аутори
Brkusanin, MilošGarai, Nemanja
Karanović, Jelena
![](/themes/Mirageimagine/images/orcid.png)
Tricković, Matija
Nikolić, Dimitrije
Sljivančanin Jakovljević, Tamara
Dimitrijević, Aleksandra
Jovanović, Kristina
Savić-Pavićević, Dušanka
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Background: Spinal muscular atrophy
(SMA) is the prevalent genetic cause of childhood
mortality. Pioneering treatments yield utmost advantages
only within the presymptomatic phase,
underlining the significance of newborn screening.
Materials and methods: 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.
Results: In the initial year, 6950 newborns
underwent testing, revealing SMA in two unrelated
infants and in an asymptomatic 16-month old sibling
of the first newborn. All three children received
therapeutic interventions in <1 month from birth.
To date, they have exhibited no signs of SM...A,
and there have been no false-negative outcomes among the newborns who tested negative during
the screening.
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. In the second
year, we included a maternity hospital beyond
Belgrade, introducing sample shipping via mail
and extending screening accessibility to a greater
number of infants. This resulted in 9800 infants
undergoing testing within 16 months. Currently, we
are actively preparing for the official incorporation
of newborn screening for SMA into the national
screening program.
Conclusions: Timely detection and treatment
can transform SMA into a manageable condition.
Кључне речи:
newborn screening / spinal muscular atrophy / pre-symptomatic diagnosis / SMA prevention / SMN1Извор:
International Journal of Medical Genetics, 2023, 26, Supplement, 55-55Издавач:
- International Journal of Medical Genetic
Напомена:
- ABSTRACT BOOK: “Genetic Diseases from Diagnostics to Prevention and Therapy” October 05-14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023; Skopje, October 05-07, 2023
Институција/група
Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Brkusanin, Miloš AU - Garai, Nemanja AU - Karanović, Jelena AU - Tricković, Matija AU - Nikolić, Dimitrije AU - Sljivančanin Jakovljević, Tamara AU - Dimitrijević, Aleksandra AU - Jovanović, Kristina AU - Savić-Pavićević, Dušanka PY - 2023 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/2200 AB - Background: Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening. Materials and methods: 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. Results: In the initial year, 6950 newborns underwent testing, revealing SMA in two unrelated infants and in an asymptomatic 16-month old sibling of the first newborn. 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. 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. In the second year, we included a maternity hospital beyond Belgrade, introducing sample shipping via mail and extending screening accessibility to a greater number of infants. This resulted in 9800 infants undergoing testing within 16 months. Currently, we are actively preparing for the official incorporation of newborn screening for SMA into the national screening program. Conclusions: Timely detection and treatment can transform SMA into a manageable condition. PB - International Journal of Medical Genetic C3 - International Journal of Medical Genetics T1 - Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period EP - 55 IS - Supplement SP - 55 VL - 26 UR - https://hdl.handle.net/21.15107/rcub_imagine_2200 ER -
@conference{ author = "Brkusanin, Miloš and Garai, Nemanja and Karanović, Jelena and Tricković, Matija and Nikolić, Dimitrije and Sljivančanin Jakovljević, Tamara and Dimitrijević, Aleksandra and Jovanović, Kristina and Savić-Pavićević, Dušanka", year = "2023", abstract = "Background: Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening. Materials and methods: 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. Results: In the initial year, 6950 newborns underwent testing, revealing SMA in two unrelated infants and in an asymptomatic 16-month old sibling of the first newborn. 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. 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. In the second year, we included a maternity hospital beyond Belgrade, introducing sample shipping via mail and extending screening accessibility to a greater number of infants. This resulted in 9800 infants undergoing testing within 16 months. Currently, we are actively preparing for the official incorporation of newborn screening for SMA into the national screening program. Conclusions: Timely detection and treatment can transform SMA into a manageable condition.", publisher = "International Journal of Medical Genetic", journal = "International Journal of Medical Genetics", title = "Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period", pages = "55-55", number = "Supplement", volume = "26", url = "https://hdl.handle.net/21.15107/rcub_imagine_2200" }
Brkusanin, M., Garai, N., Karanović, J., Tricković, M., Nikolić, D., Sljivančanin Jakovljević, T., Dimitrijević, A., Jovanović, K.,& Savić-Pavićević, D.. (2023). Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period. in International Journal of Medical Genetics International Journal of Medical Genetic., 26(Supplement), 55-55. https://hdl.handle.net/21.15107/rcub_imagine_2200
Brkusanin M, Garai N, Karanović J, Tricković M, Nikolić D, Sljivančanin Jakovljević T, Dimitrijević A, Jovanović K, Savić-Pavićević D. Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period. in International Journal of Medical Genetics. 2023;26(Supplement):55-55. https://hdl.handle.net/21.15107/rcub_imagine_2200 .
Brkusanin, Miloš, Garai, Nemanja, Karanović, Jelena, Tricković, Matija, Nikolić, Dimitrije, Sljivančanin Jakovljević, Tamara, Dimitrijević, Aleksandra, Jovanović, Kristina, Savić-Pavićević, Dušanka, "Outcome of a Serbian pilot initiative: Spinal muscular atrophy newborn screening over a 16-month period" in International Journal of Medical Genetics, 26, no. Supplement (2023):55-55, https://hdl.handle.net/21.15107/rcub_imagine_2200 .