New England Newborn Screening Program; Division of Genetics, Department of Pediatrics
Diagnosis | Maternal and Child Health | Nervous System Diseases | Pediatrics
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.
SMN1 gene, SMN2 gene, Spinal Muscular Atrophy, newborn screening
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DOI of Published Version
Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JYH, Abbott MA, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson J, Sahai I, Eaton RB, Comeau AM. Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Int J Neonatal Screen. 2021 May 23;7(2):26. doi: 10.3390/ijns7020026. PMID: 34071063; PMCID: PMC8162354. Link to article on publisher's site
International journal of neonatal screening
Hale JE, Darras BT, Swoboda KJ, Estrella E, Chen JY, Abbott M, Hay BN, Kumar B, Counihan AM, Gerstel-Thompson JL, Sahai I, Eaton RB, Comeau A. (2021). Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy. Open Access Publications by UMMS Authors. https://doi.org/10.3390/ijns7020026. Retrieved from https://escholarship.umassmed.edu/oapubs/4741
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