Department of Neurology, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
School of Women's and Children's Health, University of New South Wales Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
Dev Med Child Neurol. 2022 May;64(5):625-632. doi: 10.1111/dmcn.15117. Epub 2021 Nov 28.
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
We used an implementation-effectiveness study design and continuous interdisciplinary review to measure SMA NBS test protocol performance, identify and overcome laboratory and clinical barriers to implementation, and describe progress during the 2-year pilot study.
The NBS programme screened 252 081 newborn infants from 1st August 2018 to 31st January 2021. Using an NBS pilot test protocol, 21 infants were diagnostically confirmed with SMA. The NBS pilot test protocol had a sensitivity of 100%, specificity greater than 99.9%, false-positive rate less than 0.001%, a false-negative rate of 0%, and positive predictive value of 95.5%. A severe phenotype was predicted on the basis of two copies of SMN2 in 57.2% of newborn infants screening positive for SMA. Clinical signs consistent with SMA were evident in 6 out of 21 screen-positive newborn infants within the first 4 weeks of life. A multidisciplinary team establishing strong partnerships across clinical and laboratory staff was key to implementation.
This pilot programme suggests that NBS is essential for early identification of newborn infants at risk of SMA and can be effectively translated into clinical practice.
本研究对澳大利亚脊髓性肌萎缩症（SMA）新生儿足跟血筛查（NBS）试点项目的各个组成部分进行了动态设计、评估和实施。
我们采用实施有效性研究设计和持续的跨学科审查，以衡量 SMA NBS 测试方案的执行情况，发现并克服实施过程中的实验室和临床障碍，并描述在为期 2 年的试点研究期间的进展。
该 NBS 项目筛查了 2018 年 8 月 1 日至 2021 年 1 月 31 日期间的 252081 名新生儿。使用 NBS 试点测试方案，21 名婴儿被确诊为 SMA。NBS 试点测试方案的敏感性为 100%，特异性大于 99.9%，假阳性率小于 0.001%，假阴性率为 0%，阳性预测值为 95.5%。在 21 名 SMA 筛查阳性的新生儿中，有 57.2%的新生儿存在两个 SMN2 拷贝，预测为严重表型。在出生后 4 周内，有 6 名 SMA 筛查阳性的新生儿出现了与 SMA 一致的临床症状。一个跨临床和实验室工作人员建立了强大伙伴关系的多学科团队是实施的关键。
该试点项目表明，NBS 对于早期发现有 SMA 风险的新生儿至关重要，并且可以有效地转化为临床实践。
