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DOI 10.3390/ijns11040099

Медицинская библиотека · International journal of neonatal screening · 2025

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

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

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Аннотация

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.

Для цитирования: Monostori Péter, Szatmári Ildikó, Baráth Ákos, Bókay János, Csenki Marianna, Galla Zsolt, Gellén Balázs, Grecsó Nóra, Gyüre Eszter, Halász Zita, Hegedűs Krisztina, Kincs Judit, Kiss Erika, Kósa Magdolna, Lénárt István, Pálmay Andrea, Rácz Gábor, Szabó Hajnalka, Szabó Léna, Tőkési Viktória, Xue Andrea, Zsidegh Petra, Szabó Attila József, Bereczki Csaba. Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.. International journal of neonatal screening. 2025. DOI: 10.3390/ijns11040099.
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