Newborn screening for SMA in Southern Belgium
Newborn screening for SMA in Southern Belgium
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DOI：
10.1016/j.nmd.2019.02.003
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发表时间：
2019-05-01
影响因子：
2.8
通讯作者：
Servais, Laurent
中科院分区：
文献类型：
--
作者：
Boemer, Francois;Caberg, Jean-Hubert;Servais, Laurent
最近批准了脊髓性肌萎缩症（SMA）的新治疗方法。鉴于治疗是有效的，当管理早期和SMA相关的残疾的社会负担，新生儿筛查计划的实施是必要的。我们描述了逐步的过程，使我们在比利时南部启动了SMA的新生儿筛查计划。不同的政治，伦理和临床合作伙伴被告知这个项目，并参与其管理，因为是遗传和筛选实验室。我们开发并验证了一种新生儿筛查方法，可特异性识别SMN1基因中外显子7的纯合缺失。随后，最近在比利时的一个新生儿筛查实验室启动了一项为期3年的试点研究，每年覆盖17 000名新生儿。目前正在将覆盖范围扩大到整个比利时南部，每年对55 000名婴儿进行筛查。(C)2019 Elsevier B.V.版权所有。
Approval was recently granted for a new treatment for spinal muscular atrophy (SMA). Given that the treatment is effective when administered early and the societal burden of SMA-related disability, the implementation of a newborn screening program is warranted. We describe the stepwise process that led us to launch a newborn screening program for SMA in Southern Belgium. Different political, ethical, and clinical partners were informed about this project and were involved in its governance, as were genetic and screening labs. We developed and validated a newborn screening method to specifically recognize homozygous deletions of exon 7 in the SMN1 gene. Subsequently, a 3-year pilot study has been recently initiated in one Belgian neonatal screening laboratory to cover 17.000 neonates per year. Coverage extension to all of Southern Belgium to screen 55.000 babies each year is underway. (C) 2019 Elsevier B.V. All rights reserved.