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

**Authors:** Péter Monostori, Ildikó Szatmári, Ákos Baráth, János Bókay, Marianna Csenki, Zsolt Galla, Balázs Gellén, Nóra Grecsó, Eszter Gyüre, Zita Halász, Krisztina Hegedűs, Judit Kincs, Erika Kiss, Magdolna Kósa, István Lénárt, Andrea Pálmay, Gábor Rácz, Hajnalka Szabó, Léna Szabó, Viktória Tőkési, Andrea Xue, Petra Zsidegh, Attila József Szabó, Csaba Bereczki

PMC · DOI: 10.3390/ijns11040099 · International Journal of Neonatal Screening · 2025-10-27

## TL;DR

Hungary's newborn screening program, now celebrating 50 years, has successfully identified thousands of infants with inherited disorders, ensuring timely treatment and improved health outcomes.

## Contribution

This paper reviews the 50-year history of Hungary's newborn screening program and outlines its current state and future directions.

## Key findings

- Newborn screening in Hungary has identified 3,289 affected infants from over 5.6 million screened since 1975.
- The program now screens for 27 disorders (opt-out) and spinal muscular atrophy (opt-in) using two centralized laboratories.
- The program emphasizes equitable screening services and alignment with international standards.

## 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.

## Linked entities

- **Diseases:** phenylketonuria (MONDO:0009861), galactosemia (MONDO:0018116), congenital hypothyroidism (MONDO:0018612), spinal muscular atrophy (MONDO:0001516)

## Full-text entities

- **Diseases:** congenital hypothyroidism (MESH:D003409), inherited disorders (MESH:D030342), galactosemia (MESH:D005693), spinal muscular atrophy (MESH:D009134), phenylketonuria (MESH:D010661)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

65 references — full list in the complete paper: https://tomesphere.com/paper/PMC12641645/full.md

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Source: https://tomesphere.com/paper/PMC12641645