Current Status of Newborn Screening in Southeastern and Central Europe
Journal
International Journal of Neonatal Screening
Date Issued
2026-03-02
Author(s)
Požun, Nika
Perko, Daša
Barić, Ivo
Baša, Mihail
Battelino, Tadej
Bilandžija, Iva
Brincat, Ian
Brkušanin, Miloš
Djordević, Maja
Dimova, Ivanka
Drole Torkar, Ana
Fumić, Ksenija
Gladun, Sergiu
Girginoudis, Panagiotis
Szatmári, Ildikó
Kavečan, Ivana
Katanić, Jasmina
Kotori, Vjosa
Marić, Nina
Martić, Jelena
Manđarelo, Olja
Mlinarič, Matej
Moldovanu, Florentina
Nanu, Michaela
Monostori, Péter
Modeva, Iskra
Opančina, Branka
Platis, Dimitris
Raičević, Maja
Remec, Žiga Iztok
Repič Lampret, Barbka
Savov, Alexey
Skouma, Anastasia
Sovtić, Aleksandar
Stoeva, Iva
Toromanović, Alma
Trampuž, Domen
Usurelu, Natalia
Višekruna, Jelena
Vogazianos, Marios
Zeyda, Maximillian
Žerjav Tanšek, Mojca
Grošelj, Urh
DOI
10.3390/ijns12010014
Abstract
Newborn screening (NBS) is a well-established public health program that enables early
detection and treatment of rare disorders in newborns, preventing severe complications or
death. Despite its recognized importance, the scope and implementation of NBS programs
vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current
status of NBS in 16 countries of SE and Central Europe and assess progress since the
previous survey in 2021. A structured questionnaire was distributed to national experts
between April and December 2025, collecting data on program organization, coverage,
diseases included, laboratory methods, confirmatory testing, consent practices, and future
expansion plans. All countries reported universal screening for congenital hypothyroidism,
except Kosovo, where a national NBS is in the process of being established. Expanded
NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus,
Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy
screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most
countries reported plans for further expansion, with congenital adrenal hyperplasia, severe
combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the
most frequently targeted conditions. Although notable infrastructural progress has been
achieved, financial constraints, lack of staff, and organizational barriers remain key challenges.
The study’s assessment of program effectiveness was further limited by the absence
of region-wide systems for capturing end-to-end performance indicators, such as the age of
the infant at treatment initiation or missed cases. Regional collaboration and adoption of
best practices are therefore vital to ensure equitable access and continuous advancement of
NBS programs.
detection and treatment of rare disorders in newborns, preventing severe complications or
death. Despite its recognized importance, the scope and implementation of NBS programs
vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current
status of NBS in 16 countries of SE and Central Europe and assess progress since the
previous survey in 2021. A structured questionnaire was distributed to national experts
between April and December 2025, collecting data on program organization, coverage,
diseases included, laboratory methods, confirmatory testing, consent practices, and future
expansion plans. All countries reported universal screening for congenital hypothyroidism,
except Kosovo, where a national NBS is in the process of being established. Expanded
NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus,
Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy
screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most
countries reported plans for further expansion, with congenital adrenal hyperplasia, severe
combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the
most frequently targeted conditions. Although notable infrastructural progress has been
achieved, financial constraints, lack of staff, and organizational barriers remain key challenges.
The study’s assessment of program effectiveness was further limited by the absence
of region-wide systems for capturing end-to-end performance indicators, such as the age of
the infant at treatment initiation or missed cases. Regional collaboration and adoption of
best practices are therefore vital to ensure equitable access and continuous advancement of
NBS programs.