The growing need to identify spinal muscular atrophy (SMA) patients as early as possible has shifted attention to newborn screening (NBS). The aim of the present study was to evaluate the possibility of including the SMA-NBS in the Hungarian screening panel. As the first step, a government-funded pilot program started in November 2022 and continued until the end of 2023. Evaluation of the first 14 months was followed by the decision to lengthen the program until the end of 2024, which was further supported by the needs of society. Screening tests were performed in both Hungarian national screening laboratories uniformly using the combined EONIS SCID-SMA real-time PCR assay kit by Revvity, for the newborns whose parents gave written consent for the analysis. Altogether, 155,985 newborns were screened during the 26 months of the program, which was 87% of all newborns involved in the national neonatal screens of the same period. All 19 newborns identified on the screen were diagnosed with SMA, confirmed by a multiplex ligation-dependent probe amplification assay (MLPA). The favorable results of the pilot study support the inclusion of the SMA in the national screening panel at the earliest possible date.

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.