Back to Search
Start Over
Impact of a national population-based carrier-screening program on spinal muscular atrophy births.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Dec; Vol. 30 (12), pp. 970-974. Date of Electronic Publication: 2020 Oct 20. - Publication Year :
- 2020
-
Abstract
- Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier screening for SMA was introduced in Israel in 2008 through health-care services' insurance plans and expanded to the entire Israeli population in 2013 by a national health program. The aim of the study was to evaluate the impact of carrier screening on reducing the rate of birth of infants with SMA. All cases of prenatal and postnatal diagnosis of SMA in 2008-2017 were identified from databases of relevant government organizations, genetic laboratories in medical centers, and health care systems in Israel. Since 2013, screening was performed in 309,352 individuals, of whom 5741 were found to be carriers (carrier rate 1:54). Given an average of 180,000 live births annually, the predicted rate of SMA diagnosis was 15 cases per year. Prior to 2013, the average rate of prenatally diagnosed SMA was 4.66 cases per year, compared with 7.75 cases per year following population-wide provision of screening. The annual rate of postnatally diagnosed cases remained steady since 2008, with an average of 7- 7.25 cases per year. Screening has been effective in increasing prenatal detection of SMA but has had no effect on the rate of confirmed postnatal diagnoses. We speculate that screening rates may be affected by social, cultural, and religious factors.<br /> (Copyright © 2020 Elsevier B.V. All rights reserved.)
- Subjects :
- Adolescent
Adult
Aged
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Israel epidemiology
Male
Middle Aged
Muscular Atrophy, Spinal genetics
Survival of Motor Neuron 1 Protein
Young Adult
Genetic Testing statistics & numerical data
Mass Screening statistics & numerical data
Muscular Atrophy, Spinal epidemiology
Prenatal Diagnosis statistics & numerical data
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 30
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 33218846
- Full Text :
- https://doi.org/10.1016/j.nmd.2020.10.005