Hale Jaime E, Darras Basil T, Swoboda Kathryn J, Estrella Elicia, Chen Jin Yun Helen, Abbott Mary-Alice, Hay Beverly N, Kumar Binod, Counihan Anne M, Gerstel-Thompson Jacalyn, Sahai Inderneel, Eaton Roger B, Comeau Anne Marie
New England Newborn Screening Program, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Int J Neonatal Screen. 2021 May 23;7(2):26. doi: 10.3390/ijns7020026.
Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.
随着新治疗方案的出现，马萨诸塞州开始对脊髓性肌萎缩症（SMA）进行新生儿筛查（NBS）。新英格兰新生儿筛查项目开发、验证并实施了一种筛查算法，用于检测通过实时定量聚合酶链反应（qPCR）显示第7外显子缺失的受SMA影响的婴儿。我们对179,467名新生儿进行了筛查，确定了9名受SMA影响的婴儿，所有这些婴儿在出生后第6天（平均和中位数为出生后4天）就被转诊至专科医生处。另外观察到10例杂合子，但从未转诊。9名被确诊患有SMA的转诊婴儿进入了治疗方案。早期数据显示，一些受SMA影响的儿童仍无症状，正在达到发育里程碑，而一些儿童则有轻度至中度发育迟缓。马萨诸塞州的经验表明，SMA新生儿筛查是可行的，可以在人群基础上实施，并有助于让婴儿接受早期治疗以最大化获益。
