20.500.12556/DiRROS-28010 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. newborn screening NBS Southeastern Europe Central Europe neonatal screening expanded NBS program true false true Angleški jezik Ni določen Neznano 2026-03-06 07:39:47 2026-03-06 07:39:47 2026-03-07 03:51:39 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 6. 3. 2026; str. 1-23 issue 1, [article no. ] 14 Vol. 12 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 2409-515X 10.3390/ijns12010014 270681603 RAZ_Pozun_Nika_2026.pdf RAZ_Pozun_Nika_2026.pdf 1 BD063A7572D99CEF1A1539EBC137AA43 f5b11e563ecf69b8267f3f3003382b4ce85e4b41221450a170892c6c0df5a624 6c291815-1927-11f1-81cd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41320 https://www.mdpi.com/2409-515X/12/1/14 0 7eac18d0-1927-11f1-81cd-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=41321 Univerzitetni klinični center Ljubljana 0 0 0