Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Content Provider	Scilit
Author	Kay, Denise M. Stevens, Colleen F. Parker, April Saavedra-Matiz, Carlos A. Sack, Virginia Chung, Wendy K. Chiriboga, Claudia A. Engelstad, Kristin Laureta, Emma Farooq, Osman Ciafaloni, Emma Lee, Bo Hoon Malek, Sohail Treidler, Simona Anziska, Yaacov Delfiner, Leslie Sakonju, Ai Caggana, Michele
Copyright Year	2020
Description	Journal: Genetics in Medicine Purpose Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary molecular assay. SMA newborn screening was implemented in New York State (NYS) on 1 October 2018. Methods Screening was conducted using DNA extracted from dried blood spots with a multiplex real-time quantitative polymerase chain reaction (qPCR) assay targeting the recurrent SMN1 exon 7 gene deletion. Results During the first year, 225,093 infants were tested. Eight screened positive, were referred for follow-up, and confirmed to be homozygous for the deletion. Infants with two or three copies of the SMN2 gene, predicting more severe, earlier-onset SMA, were treated with antisense oligonucleotide and/or gene therapy. One infant with ≥4 copies SMN2 also received gene therapy. Conclusion Newborn screening permits presymptomatic SMA diagnosis, when treatment initiation is most beneficial. At 1 in 28,137 (95% confidence interval [CI]: 1 in 14,259 to 55,525), the NYS SMA incidence is 2.6- to 4.7-fold lower than expected. The low SMA incidence is likely attributable to imprecise and biased estimates, coupled with increased awareness, access to and uptake of carrier screening, genetic counseling, cascade testing, prenatal diagnosis, and advanced reproductive technologies.
Related Links	https://www.nature.com/articles/s41436-020-0824-3.pdf
Ending Page	1302
Page Count	7
Starting Page	1296
ISSN	10983600
DOI	10.1038/s41436-020-0824-3
Journal	Genetics in Medicine
Issue Number	8
Volume Number	22
Language	English
Publisher	Elsevier BV
Publisher Date	2020-05-18
Access Restriction	Open
Subject Keyword	Journal: Genetics in Medicine Pediatrics and Child Health Spinal Muscular Atrophy (sma) Newborn Screening (nbs) Recommended Uniform Screening Panel (rusp) Carrier Screening
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical)