Baker Mei W, Mochal Sean T, Dawe Sandra J, Wiberley-Bradford Amy E, Cogley Michael F, Zeitler Bethany R, Piro Zachary D, Harmelink Mathew M, Kwon Jennifer M
Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States; Genetics and Metabolism Division, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.
Newborn Screening Laboratory, Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.
Neuromuscul Disord. 2022 Feb;32(2):135-141. doi: 10.1016/j.nmd.2021.07.398. Epub 2021 Jul 27.
Spinal muscular atrophy was recently added to the Wisconsin newborn screening panel. Here we report our screening methods, algorithm, and outcomes. A multiplex real-time PCR assay was used to identify newborns with homozygous SMN1 exon 7 deletion, and those newborns' specimens further underwent a droplet digital PCR assay for SMN2 copy number assessment. An independent dried blood spot specimen was collected and tested to confirm the initial screening results for SMN1 and SMN2. From October 15, 2019 to October 14, 2020, a total of 60,984 newborns were screened for spinal muscular atrophy. Six newborns screened positive for and were confirmed to have spinal muscular atrophy, making the Wisconsin spinal muscular atrophy birth prevalence 1 in 10,164. Of these six infants, two have two copies of SMN2, two have three copies of SMN2, and two have four copies of SMN2. Five newborns received Zolgensma therapy, and one newborn received Spinraza therapy. Our screening method's positive predictive value is 100%. This comprehensive approach, providing both timely SMN2 information and SMN1 and SMN2 confirmation as parts of the algorithm for spinal muscular atrophy newborn screening, facilitated timely clinical follow-up, family counseling, and treatment planning.
脊髓性肌萎缩症最近被纳入威斯康星州新生儿筛查项目。在此，我们报告我们的筛查方法、算法及结果。采用多重实时聚合酶链反应检测法来识别携带纯合性SMN1基因外显子7缺失的新生儿，这些新生儿的样本进一步接受液滴数字聚合酶链反应检测以评估SMN2拷贝数。采集并检测一份独立的干血斑样本以确认SMN1和SMN2的初始筛查结果。从2019年10月15日至2020年10月14日，共对60984名新生儿进行了脊髓性肌萎缩症筛查。有6名新生儿筛查呈阳性并被确诊患有脊髓性肌萎缩症，这使得威斯康星州脊髓性肌萎缩症的出生患病率为1/10164。在这6名婴儿中，两名有两份SMN2拷贝，两名有三份SMN2拷贝，两名有四份SMN2拷贝。5名新生儿接受了Zolgensma治疗，1名新生儿接受了Spinraza治疗。我们筛查方法的阳性预测值为100%。这种综合方法，作为脊髓性肌萎缩症新生儿筛查算法的一部分，既提供了及时的SMN2信息，又提供了SMN1和SMN2的确认，便于及时进行临床随访、家庭咨询和治疗规划。
