Lee Francis K, Greene Christopher, Mercer Kristina, Taylor Jennifer, Yazdanpanah Golriz, Vogt Robert, Lee Rachel, Cuthbert Carla, Cordovado Suzanne
Newborn Screening and Molecular Biology Branch, U.S. Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Int J Neonatal Screen. 2024 Jul 17;10(3):51. doi: 10.3390/ijns10030051.
Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S. Centers for Disease Control and Prevention (CDC) have worked towards building resources for public health laboratories in four phases since 2013. In Phase 1, CDC established a real-time PCR assay, which uses a locked nucleic acid probe to attain the needed specificity, to detect exon 7. In Phase 2, we developed quality assurance dried blood spot materials made with transduced lymphoblast cell lines established from de-identified SMA patients, carriers, and unaffected donors. In 2021, CDC implemented Phase 3, a proficiency testing program, that now supports 115 NBS labs around the world. We are currently completing Phase 4, which includes the implementation of an external SMA quality control material program. Also, during this time, CDC has provided individual technical assistance to NBS programs and bench training to NBS scientists during our annual molecular workshop. These CDC-led activities have contributed to the rapid and full implementation of SMA screening in all 50 U.S. states as of February 2024.
脊髓性肌萎缩症（SMA）于2018年被添加到美国卫生与公众服务部部长推荐的新生儿筛查统一筛查小组中，从而能够对受影响的婴儿进行早期诊断和治疗，以防止不可逆的运动神经元损伤。为了支持SMA新生儿筛查，自2013年以来，美国疾病控制与预防中心（CDC）的科学家分四个阶段致力于为公共卫生实验室建立相关资源。在第一阶段，CDC建立了一种实时PCR检测方法，该方法使用锁核酸探针来获得所需的特异性，以检测外显子7。在第二阶段，我们开发了质量保证干血斑材料，这些材料由从身份不明的SMA患者、携带者和未受影响的供体建立的转导淋巴母细胞系制成。2021年，CDC实施了第三阶段，即一项能力验证计划，该计划目前为全球115个新生儿筛查实验室提供支持。我们目前正在完成第四阶段，其中包括实施外部SMA质量控制材料计划。此外，在此期间，CDC在我们的年度分子研讨会上为新生儿筛查计划提供了个别技术援助，并为新生儿筛查科学家提供了实操培训。截至2024年2月，这些由CDC牵头的活动推动了SMA筛查在美国所有50个州的迅速全面实施。
