Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
Autor: | Anne Marie Comeau, Jin Yun Helen Chen, Inderneel Sahai, Kathryn J. Swoboda, Anne M. Counihan, Binod Kumar, Basil T. Darras, Jacalyn L. Gerstel-Thompson, Beverly N. Hay, Jaime E. Hale, Roger B. Eaton, Elicia Estrella, Mary-Alice Abbott |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Day of life Population SMN2 gene SMN1 Asymptomatic Article RJ1-570 03 medical and health sciences 0302 clinical medicine New england Immunology and Microbiology (miscellaneous) medicine SMN1 gene education Newborn screening education.field_of_study newborn screening business.industry Obstetrics and Gynecology Spinal muscular atrophy medicine.disease SMA 030104 developmental biology Spinal Muscular Atrophy Pediatrics Perinatology and Child Health medicine.symptom business 030217 neurology & neurosurgery |
Zdroj: | International Journal of Neonatal Screening, Vol 7, Iss 26, p 26 (2021) International Journal of Neonatal Screening Volume 7 Issue 2 |
ISSN: | 2409-515X |
Popis: | 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. |
Databáze: | OpenAIRE |
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