Šimić Darija, Šarić Ana, Škaričić Ana, Lehman Ivan, Bunoza Branka, Rako Ivana, Fumić Ksenija
Department of Laboratory Diagnostics, University Hospital Center Zagreb, 10000 Zagreb, Croatia.
Department of Pediatrics, University Hospital Center Zagreb, 10000 Zagreb, Croatia.
Int J Neonatal Screen. 2024 Jul 16;10(3):50. doi: 10.3390/ijns10030050.
Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia. The best treatment outcomes occur when therapy is applied before symptoms appear, making newborn screening (NBS) for SMA a crucial factor. Since SMA NBS is the first genetic test performed in our laboratory, for successful implementation of the program, we had to overcome logistical and organizational issues. Herein, we present the results of the SMA NBS during the one-year pilot project in Croatia and verify the suitability of the Targeted qPCR SMA assay for SMA NBS. The pilot project started on 1 March 2023 in the Department for Laboratory Diagnostics of the University Hospital Center Zagreb. A total of 32,655 newborns were tested. Five SMA patients were detected, and their diagnoses were confirmed by the multiplex ligation-dependent probe amplification (MLPA) assay. There have been no false positive or false negative results, to our knowledge so far. The incidence of SMA determined during the pilot study is consistent with the SMA incidence data from other European countries.
脊髓性肌萎缩症（SMA）是一种神经肌肉和神经退行性疾病，95%的病例由第7外显子纯合缺失引起。随着疾病修饰疗法的发展，SMA患者的预后有所改善，所有这些疗法在克罗地亚都有。当在症状出现前进行治疗时，治疗效果最佳，这使得SMA新生儿筛查（NBS）成为一个关键因素。由于SMA NBS是我们实验室进行的第一项基因检测，为了成功实施该项目，我们必须克服后勤和组织方面的问题。在此，我们展示了克罗地亚为期一年的试点项目中SMA NBS的结果，并验证了靶向qPCR SMA检测法用于SMA NBS的适用性。该试点项目于2023年3月1日在萨格勒布大学医院中心实验室诊断科启动。共检测了32655名新生儿。检测到5名SMA患者，其诊断通过多重连接依赖探针扩增（MLPA）检测得到证实。据我们目前所知，没有出现假阳性或假阴性结果。试点研究期间确定的SMA发病率与其他欧洲国家的SMA发病率数据一致。
