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.
