Abstract：
OBJECTIVE: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka.
METHODS: A multiplex TaqMan real-time quantitative polymerase chain reaction assay was used to screen for SMA. Dried blood spot samples obtained for the optional NBS program for severe combined immunodeficiency, which covers about 50% of the newborns in Osaka, were used. To obtain informed consent, participating obstetricians provided information about the optional NBS program to all parents by giving leaflets to prospective parents and uploading the information onto the internet. We prepared a workflow so that babies that were diagnosed with SMA through the NBS could be treated immediately.
RESULTS: From 1 February 2021 to 30 September 2021, 22,951 newborns were screened for SMA. All of them tested negative for survival motor neuron (SMN)1 deletion, and there were no false-positives. Based on these results, an SMA-NBS program was established in Osaka and included in the optional NBS programs run in Osaka from 1 October 2021. A positive baby was found by screening, diagnosed with SMA (the baby possessed 3 copies of the SMN2 gene and was pre-symptomatic), and treated immediately.
CONCLUSIONS: The workflow of the Osaka SMA-NBS program was confirmed to be useful for babies with SMA.
METHODS: A multiplex TaqMan real-time quantitative polymerase chain reaction assay was used to screen for SMA. Dried blood spot samples obtained for the optional NBS program for severe combined immunodeficiency, which covers about 50% of the newborns in Osaka, were used. To obtain informed consent, participating obstetricians provided information about the optional NBS program to all parents by giving leaflets to prospective parents and uploading the information onto the internet. We prepared a workflow so that babies that were diagnosed with SMA through the NBS could be treated immediately.
RESULTS: From 1 February 2021 to 30 September 2021, 22,951 newborns were screened for SMA. All of them tested negative for survival motor neuron (SMN)1 deletion, and there were no false-positives. Based on these results, an SMA-NBS program was established in Osaka and included in the optional NBS programs run in Osaka from 1 October 2021. A positive baby was found by screening, diagnosed with SMA (the baby possessed 3 copies of the SMN2 gene and was pre-symptomatic), and treated immediately.
CONCLUSIONS: The workflow of the Osaka SMA-NBS program was confirmed to be useful for babies with SMA.
摘要：
目的：本研究旨在建立大阪脊髓性肌萎缩症（SMA-NBS）的新生儿筛查方案。
方法：采用多重TaqMan实时定量聚合酶链反应法筛选SMA。为严重联合免疫缺陷的可选NBS计划获得的干血斑样本，覆盖了大阪大约50%的新生儿，被使用。为了获得知情同意，参与的产科医生通过向准父母提供传单并将信息上传到互联网上，向所有父母提供有关可选的NBS计划的信息。我们准备了一个工作流程，以便通过NBS诊断为SMA的婴儿可以立即治疗。
结果：从2021年2月1日至2021年9月30日，对22,951名新生儿进行了SMA筛查。所有测试均为运动神经元存活（SMN）1缺失阴性，也没有假阳性.基于这些结果,在大阪建立了SMA-NBS计划，并将其纳入2021年10月1日起在大阪运行的可选NBS计划中。通过筛查发现了一个阳性婴儿，诊断为SMA（婴儿拥有3个SMN2基因拷贝，并有症状），并立即治疗。
结论：大阪SMA-NBS计划的工作流程被证实对患有SMA的婴儿有用。
方法：采用多重TaqMan实时定量聚合酶链反应法筛选SMA。为严重联合免疫缺陷的可选NBS计划获得的干血斑样本，覆盖了大阪大约50%的新生儿，被使用。为了获得知情同意，参与的产科医生通过向准父母提供传单并将信息上传到互联网上，向所有父母提供有关可选的NBS计划的信息。我们准备了一个工作流程，以便通过NBS诊断为SMA的婴儿可以立即治疗。
结果：从2021年2月1日至2021年9月30日，对22,951名新生儿进行了SMA筛查。所有测试均为运动神经元存活（SMN）1缺失阴性，也没有假阳性.基于这些结果,在大阪建立了SMA-NBS计划，并将其纳入2021年10月1日起在大阪运行的可选NBS计划中。通过筛查发现了一个阳性婴儿，诊断为SMA（婴儿拥有3个SMN2基因拷贝，并有症状），并立即治疗。
结论：大阪SMA-NBS计划的工作流程被证实对患有SMA的婴儿有用。
