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添加到威斯康星州新生儿筛查小组中。在这里，我们报告我们的筛选方法、算法和结果。使用多重实时 PCR 测定来鉴定具有纯合SMN1外显子 7 缺失的新生儿，并且这些新生儿的标本进一步进行了液滴数字 PCR 测定以评估SMN2拷贝数。收集并测试了独立的干血斑样本，以确认SMN1和SMN2的初步筛查结果. 2019年10月15日至2020年10月14日，共有60984名新生儿接受了脊髓性肌萎缩症筛查。六名新生儿筛查呈阳性并被证实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 10,164 人中的 1 人。在这六个婴儿中，两个有两个SMN2拷贝，两个有三个SMN2拷贝，两个有四个SMN2 拷贝。5 名新生儿接受了 Zolgensma 治疗，1 名新生儿接受了 Spiraza 治疗。我们的筛查方法的阳性预测值为 100%。这种综合方法，提供及时的SMN2信息以及SMN1和SMN2作为脊髓性肌萎缩症新生儿筛查流程的一部分，有助于及时进行临床随访、家庭咨询和治疗计划。