Abstract
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 SMN1 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 SMN1 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.
Highlights
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease resulting from a deficiency of the Survival Motor Neuron (SMN) protein that is caused by bi-allelic pathogenic variants in the SMN1 gene; it is the leading genetic cause of death for infants
Nine infants with SMA were identified by newborn screening and referred to a specialist before the end of their first week of life
We chose a conservative approach, not wanting to rely only on the Locked Nucleic Acids (LNA) for sequence specificity within the high-throughput environment of newborn screening (NBS) until more data accrued about this use
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Recent advances in the treatment of Spinal Muscular Atrophy (SMA) promoted interest in the development of reliable assays for use in United States (US) newborn screening (NBS). 95% of patients with SMA have a homozygous deletion of Exon 7 of the SMN1 gene. Massachusetts and Utah were the first states in the US to offer statewide NBS for SMA. The Commonwealth of Massachusetts began offering statewide NBS for SMA in January 2018. In July 2018, the US Secretary of Health and Human Services approved the addition of the disorder, “SMA due to homozygous deletion of Exon 7 in SMN1”, theMassachusetts. In July 2018, the US Secretary of Health and Human Services approved the addition of the disorder, “SMA due to homozygous deletion of Exon 7 in SMN1”, to the Materials andUniform. Recommended offering universal screening for SMA, accounting for approximately 60% of US births [4]
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