TY  - 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 .