Impact of a national population-based carrier-screening program on spinal muscular atrophy births

摘要: Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease. Population carrier screening for SMA was introduced in Israel 2008 through health-care services' insurance plans and expanded to the entire Israeli population 2013 by national health program. The aim of study evaluate impact on reducing rate birth infants with SMA. All cases prenatal postnatal diagnosis 2008-2017 were identified from databases relevant government organizations, laboratories medical centers, care systems Israel. Since 2013, performed 309,352 individuals, whom 5741 found be carriers (carrier 1:54). Given an average 180,000 live births annually, predicted 15 per year. Prior prenatally diagnosed 4.66 year, compared 7.75 year following population-wide provision screening. annual postnatally remained steady since 2008, 7- 7.25 Screening has been effective increasing detection but had no effect confirmed diagnoses. We speculate that rates may affected social, cultural, religious factors.