Hegedűs Krisztina, Lénárt István, Xue Andrea, Monostori Péter Béla, Baráth Ákos, Mikos Borbála, Udvari Szabolcs, Géresi Adrienn, Szabó Attila József, Bereczki Csaba, Molnár Mária Judit, Szatmári Ildikó
Paediatric Centre, Semmelweis University, 1083 Budapest, Hungary.
Department of Paediatrics, University of Szeged, 6725 Szeged, Hungary.
Int J Neonatal Screen. 2025 Apr 23;11(2):29. doi: 10.3390/ijns11020029.
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.
尽早识别脊髓性肌萎缩症（SMA）患者的需求日益增长，这使得人们将注意力转向了新生儿筛查（NBS）。本研究的目的是评估将SMA-NBS纳入匈牙利筛查项目的可能性。第一步，一项由政府资助的试点项目于2022年11月启动，并持续至2023年底。在对前14个月进行评估后，决定将该项目延长至2024年底，社会需求也进一步支持了这一决定。匈牙利的两个国家筛查实验室均统一使用Revvity公司的EONIS SCID-SMA实时聚合酶链反应检测试剂盒，对父母书面同意进行分析的新生儿进行筛查。在该项目的26个月期间，共筛查了155,985名新生儿，占同期全国新生儿筛查总数的87%。筛查出的19名新生儿均被诊断为SMA，并通过多重连接依赖探针扩增法（MLPA）得到确诊。试点研究的良好结果支持尽早将SMA纳入国家筛查项目。
