Current Status of Newborn Screening in Southeastern and Central Europe

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.

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Publication Details

Journal
International Journal of Neonatal Screening
Published
2026-03-02
DOI
https://doi.org/10.3390/ijns12010014
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

Current Status of Newborn Screening in Southeastern and Central Europe

Alma Toromanović, Matej Mlinarić, Panagiotis Girginoudis, Jelena Višekruna et al.
International Journal of Neonatal Screening
Metabolism and Genetic Disorders
article

Current Status of Newborn Screening in Southeastern and Central Europe

Alma Toromanović, Matej Mlinarić, Panagiotis Girginoudis, Jelena Višekruna, Anastasia Skouma, Dimitris Platis, Miloš Brkušanin, Žiga Iztok Remec, Barbka Repič Lampret, Ivo Barić, Marios Vogazianos, Iva Bilandžija, Mihail Baša, Iva Stoeva, Natalia Ușurelu, Violeta Anastasovska, Alexey Savov, Ivanka Istalianova Dimova, Florentina Moldovanu, Daša Perko, Ildikó Szatmári, Jasmina Katanić, Ivana Kavečan, Branka Opancina, Vjosa Kotori, Ian Brincat, Iskra Modeva, Michaela Nanu, Jelena Martić, Nina Marić, M. Pompe Tansek, Tatjana Milenković, Maximillian Zeyda, Domen Trampuž, Nika Požun, Ana Drole Torkar, Urh Groselj, Sergiu Gladun, Ksenija Fumić, Olja Manđarelo, Tadej Battelino, Maja Djordević, Aleksandar Sovtić, Péter Monostori
article en

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.

International Journal of Neonatal ScreeningVol. 12(1)
Semmelweis University (HU), University Hospital Centre Zagreb (HR), University of Ljubljana (SI), University of Novi Sad (RS), University of Banja Luka (BA), University of Szeged (HU), Mater Dei Hospital (MT), Ljubljana University Medical Centre (SI), Medical University of Sofia (BG), University of Belgrade (RS), University for Business and Technology (XK), University Clinical Center of Kosovo (XK), University Clinic of Traumatology (AT), University Hospital St. Ivan Rilski (BG), Limassol General Hospital (CY), Prof. Assen Zlatarov University (BG), Institutul National pentru Sanatatea Mamei si Copilului "Alessandrescu-Rusescu" (RO), Institute of Public Health of Vojvodina (RS), Mother and Child Foundation (GB), Institute of Public Health of Serbia (RS), Institute of Child Health (GR), PHI University Psychiatric Clinic - Skopje (MK), University Clinical Center Tuzla (BA), University clinical center of Republika Srpska (BA), Institute of Child and Mother Health (BD), University of Montenegro (ME), Medical University of Vienna (AT)
Partnerships for the goals
Openalex Percentile: Top 35%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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