Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

• Main Authors: Jaime E. Hale (Author), Basil T. Darras (Author), Kathryn J. Swoboda (Author), Elicia Estrella (Author), Jin Yun Helen Chen (Author), Mary-Alice Abbott (Author), Beverly N. Hay (Author), Binod Kumar (Author), Anne M. Counihan (Author), Jacalyn Gerstel-Thompson (Author), Inderneel Sahai (Author), Roger B. Eaton (Author), Anne Marie Comeau (Author)
• Format: Book
• Published: MDPI AG, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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 <i>SMN1</i> 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 <i>SMN1</i> 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.

Item Description

10.3390/ijns7020026
2409-515X