Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier screening for SMA was introduced in Israel in 2008 through health-care services' insurance plans and expanded to the entire Israeli population in 2013 by a national health program. The aim of the study was to evaluate the impact of carrier screening on reducing the rate of birth of infants with SMA. All cases of prenatal and postnatal diagnosis of SMA in 2008-2017 were identified from databases of relevant government organizations, genetic laboratories in medical centers, and health care systems in Israel. Since 2013, screening was performed in 309,352 individuals, of whom 5741 were found to be carriers (carrier rate 1:54). Given an average of 180,000 live births annually, the predicted rate of SMA diagnosis was 15 cases per year. Prior to 2013, the average rate of prenatally diagnosed SMA was 4.66 cases per year, compared with 7.75 cases per year following population-wide provision of screening. The annual rate of postnatally diagnosed cases remained steady since 2008, with an average of 7- 7.25 cases per year. Screening has been effective in increasing prenatal detection of SMA but has had no effect on the rate of confirmed postnatal diagnoses. We speculate that screening rates may be affected by social, cultural, and religious factors.

中文翻译：

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全国基于人群的携带者筛查计划对脊髓性肌萎缩症出生的影响

脊髓性肌萎缩症（SMA）是一种遗传性神经退行性疾病。SMA 人群携带者筛查于 2008 年通过医疗保健服务的保险计划引入以色列，并于 2013 年通过国家健康计划扩展到整个以色列人口。该研究的目的是评估携带者筛查对降低 SMA 婴儿出生率的影响。2008-2017 年所有产前和产后 SMA 诊断病例均来自以色列相关政府组织、医疗中心基因实验室和卫生保健系统的数据库。自 2013 年以来，对 309,352 人进行了筛查，其中发现 5741 人为携带者（携带者比率为 1:54）。鉴于每年平均有 180,000 名活产儿，SMA 诊断的预测率为每年 15 例。在 2013 年之前，产前诊断 SMA 的平均率为每年 4.66 例，而在全人群提供筛查后每年为 7.75 例。2008年以来产后确诊病例年率保持稳定，平均每年7-7.25例。筛查在提高 SMA 的产前检出率方面是有效的，但对产后诊断的确诊率没有影响。我们推测筛查率可能会受到社会、文化和宗教因素的影响。筛查在提高 SMA 的产前检出率方面是有效的，但对产后诊断的确诊率没有影响。我们推测筛查率可能会受到社会、文化和宗教因素的影响。筛查在提高 SMA 的产前检出率方面是有效的，但对产后诊断的确诊率没有影响。我们推测筛查率可能会受到社会、文化和宗教因素的影响。