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Volume 11
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Review

Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions

by
Péter Monostori
1,*,†,
Ildikó Szatmári
2,†,
Ákos Baráth
1,
János Bókay
2,
Marianna Csenki
3,
Zsolt Galla
1,
Balázs Gellén
1,
Nóra Grecsó
1,
Eszter Gyüre
1,
Zita Halász
2,
Krisztina Hegedűs
2,
Judit Kincs
2,
Erika Kiss
2,
Magdolna Kósa
1,
István Lénárt
1,
Andrea Pálmay
2,
Gábor Rácz
1,
Hajnalka Szabó
1,
Léna Szabó
2,
Viktória Tőkési
2,
Andrea Xue
2,
Petra Zsidegh
2,
Attila József Szabó
2,† and
Csaba Bereczki
1,†add Show full author list remove Hide full author list
1
Metabolic and Newborn Screening Laboratory, Department of Pediatrics, University of Szeged, Korányi Fasor 14-15, H-6720 Szeged, Hungary
2
Metabolic Screening and Diagnostic Center, Department of Pediatrics, Semmelweis University, Bókay János u. 53-54, H-1083 Budapest, Hungary
3
Department of Medical Genetics, University of Szeged, Szőkefalvi-Nagy Béla u. 4/B, H-6720 Szeged, Hungary
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2025, 11(4), 99; https://doi.org/10.3390/ijns11040099 (registering DOI)
Submission received: 11 September 2025 / Revised: 22 October 2025 / Accepted: 23 October 2025 / Published: 27 October 2025
Versions Notes

Abstract

Newborn screening (NBS), one of the most important public health care prevention programs, aims at the early identification of asymptomatic newborns at increased risk for inherited disorders, facilitating timely intervention to reduce morbidity and mortality. NBS in Hungary is celebrating the 50th anniversary of the nationwide implementation of screening for phenylketonuria and galactosemia, as well as the 40th anniversary of congenital hypothyroidism screening. The present paper reviews the early years, the present situation, and future perspectives for the Hungarian NBS program. Today, screening for 27 disorders (opt-out) plus spinal muscular atrophy (opt-in) is supported by two centralized and well-equipped laboratories in Budapest and Szeged, in-depth laboratory knowledge, a robust follow-up system, and governmental financial support. Since 1975, 3,289 patients have been confirmed with a screened condition from over 5.6 million newborns screened. The 50-year anniversary of the Hungarian NBS program highlights the dedication of both past and current professionals, ongoing advancements in analytical methods and laboratory information management systems, and alignment with international standards. The equitable provision of screening services continues to be prioritized for all newborns nationwide and within the broader Euro-regional context.
Keywords: diagnostics; inborn errors of metabolism; inherited disorders; mass spectrometry; newborn screening diagnostics; inborn errors of metabolism; inherited disorders; mass spectrometry; newborn screening

Share and Cite

MDPI and ACS Style

Monostori, P.; Szatmári, I.; Baráth, Á.; Bókay, J.; Csenki, M.; Galla, Z.; Gellén, B.; Grecsó, N.; Gyüre, E.; Halász, Z.; et al. Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions. Int. J. Neonatal Screen. 2025, 11, 99. https://doi.org/10.3390/ijns11040099

AMA Style

Monostori P, Szatmári I, Baráth Á, Bókay J, Csenki M, Galla Z, Gellén B, Grecsó N, Gyüre E, Halász Z, et al. Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions. International Journal of Neonatal Screening. 2025; 11(4):99. https://doi.org/10.3390/ijns11040099

Chicago/Turabian Style

Monostori, Péter, Ildikó Szatmári, Ákos Baráth, János Bókay, Marianna Csenki, Zsolt Galla, Balázs Gellén, Nóra Grecsó, Eszter Gyüre, Zita Halász, and et al. 2025. "Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions" International Journal of Neonatal Screening 11, no. 4: 99. https://doi.org/10.3390/ijns11040099

APA Style

Monostori, P., Szatmári, I., Baráth, Á., Bókay, J., Csenki, M., Galla, Z., Gellén, B., Grecsó, N., Gyüre, E., Halász, Z., Hegedűs, K., Kincs, J., Kiss, E., Kósa, M., Lénárt, I., Pálmay, A., Rácz, G., Szabó, H., Szabó, L., ... Bereczki, C. (2025). Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions. International Journal of Neonatal Screening, 11(4), 99. https://doi.org/10.3390/ijns11040099

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