Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/6183
Title: One year of newborn screening for spinal muscular atrophy – results of a Serbian pilot project
Authors: Brkušanin, Miloš 
Karanović, Jelena 
Garai N
Tričković M
Nikolić D
Šljivančanin Jakovljević T
Jovanović K
Savić-Pavićević, Dušanka 
Issue Date: 2023
Rank: M64
Publisher: Serbian Neuroscience Society
Start page: 91
End page: 91
Conference: 8th Congress of Serbian Neuroscience Society with international participation
Abstract: 
Spinal muscular atrophy (SMA) is the most common genetic cause of death in
childhood. Innovative therapies show the greatest benefit only when administered in
the presymptomatic period, making newborn screening an ethical and medical priority
in many countries. In 2022 Centre for Human Molecular Genetics initiated a
feasibility study of the newborn screening for SMA in close collaboration with the
University Children's Hospital Tirsova, Association SMA Serbia and with financial
support from Novartis Gene Therapies, Roche and Biogen/Medis Pharma aiming to
screen up to 8000 babies from the Obstetrics and Gynaecology Clinic Narodni Front
during one year. A total of 6950 newborns were tested and SMA was confirmed in
two unrelated newborns from families with no history of SMA. A 16-month old
sibling of the first baby was also tested, even though he was completely
asymptomatic, and SMA was also confirmed. Average time between birth and the first
screen-positive result was 5 days, and 8 days between birth and final confirmation of
diagnosis. All three children received modifying therapies in less than 10 days from
final diagnosis. So far, no false-negatives have been reported among the newborns
who tested negative in the screening. As pioneers and leaders in this field, we created
synchronised work at different levels of healthcare system, established screening and
diagnostic algorithms and follow-up protocols. We are currently involved in scaling
up screening to include an additional maternity hospital and preparing the ground for
the implementation of the newborn screening for SMA as the official national
screening program.
URI: https://biore.bio.bg.ac.rs/handle/123456789/6183
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