Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić
{"title":"One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.","authors":"Darija Šimić, Ana Šarić, Ana Škaričić, Ivan Lehman, Branka Bunoza, Ivana Rako, Ksenija Fumić","doi":"10.3390/ijns10030050","DOIUrl":null,"url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of <i>SMN1</i> 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<sup>™</sup> 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.</p>","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":4.0000,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270348/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Neonatal Screening","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/ijns10030050","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of SMN1 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 SMN1 第 7 号外显子同源缺失引起。随着疾病改变疗法的发展,SMA 患者的预后有所改善,克罗地亚已提供所有这些疗法。只有在症状出现之前进行治疗,才能取得最佳治疗效果,因此新生儿SMA筛查(NBS)至关重要。由于 SMA 新生儿筛查(NBS)是我们实验室开展的第一项基因检测,为了成功实施该计划,我们必须克服后勤和组织方面的问题。在此,我们介绍了克罗地亚为期一年的 SMA NBS 试点项目的结果,并验证了靶向 qPCR™ SMA 检测法在 SMA NBS 中的适用性。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部启动。共有 32,655 名新生儿接受了检测。其中发现了五名 SMA 患者,并通过多重结扎依赖性探针扩增 (MLPA) 分析法确诊。据我们所知,迄今为止没有出现假阳性或假阴性结果。试点研究中确定的 SMA 发病率与其他欧洲国家的 SMA 发病率数据一致。