1. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
- Author
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Ritu Jain, Jennifer N Kraszewski, Bianca Haser, Michele Caggana, Carrie Koval, Nicole M. LaMarca, Sally Dunaway Young, Wendy K. Chung, Anthony Albertorio, Colleen F. Stevens, Sarah P Andrew, Darryl C. De Vivo, Denise M. Kay, Lilian L. Cohen, and Veronica Ortiz
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Pediatrics ,Population ,Gene Dosage ,New York ,Pilot Projects ,Population based ,SMN1 ,030105 genetics & heredity ,Muscular Atrophy, Spinal ,03 medical and health sciences ,0302 clinical medicine ,Neonatal Screening ,medicine ,Humans ,education ,Genetics (clinical) ,education.field_of_study ,Newborn screening ,business.industry ,Infant, Newborn ,Infant ,Spinal muscular atrophy ,Exons ,medicine.disease ,SMA ,Survival of Motor Neuron 1 Protein ,Surgery ,Clinical trial ,Nusinersen ,Female ,business ,030217 neurology & neurosurgery ,Gene Deletion - Abstract
PurposeTo determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State.MethodsWe validated a multiplex TaqMan real-time quantitative polymerase chain reaction assay using dried blood spots for SMA. From January 2016 to January 2017, we offered, consented, and screened 3,826 newborns at three hospitals in New York City and tested newborns for the deletion in exon 7 of SMN1.ResultsNinety-three percent of parents opted in for SMA screening. Overall the SMA carrier frequency was 1.5%. We identified one newborn with a homozygous SMN1 deletion and two copies of SMN2, which strongly suggests the severe type 1 SMA phenotype. The infant was enrolled in the NURTURE clinical trial and was first treated with Spinraza at age 15 days. She is now age 12 months, meeting all developmental milestones, and free of any respiratory issues.ConclusionOur pilot study demonstrates the feasibility of population-based screening, the acceptance by families, and the benefit of newborn screening for SMA. We suggest that SMA be considered for addition to the national recommended uniform screening panel.
- Published
- 2017