SynthesisMedicine2020
The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.
Synthesis in Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.Molecular genetics & genomic medicine · 2026Article
- Treatment Preferences in Adult Patients with Type 2 and Type 3 Spinal Muscular Atrophy: Evidence from a Discrete Choice Experiment in China.The patient · 2026Article
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China.BMC neurology · 2026Article
- A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review.BMC neurology · 2026Review
- Article
- Turkish men's experiences of positive SMA carrier results: a qualitative study within a gendered screening framework.BMC public health · 2025Article
- Disease characteristics and treatment status of genetically confirmed spinal muscular atrophy patients: a cross-sectional survey in China.BMC neurology · 2025Article
- Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China.Biochemical genetics · 2025Article
- Research trends on spinal muscular atrophy from 1995 to 2023: A bibliometric analysis.Medicine · 2025Review
- Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.Frontiers in genetics · 2025Article
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.Journal of neurology · 2024Article
- Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.Frontiers in neurology · 2024Article
- Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women.Molecular genetics & genomic medicine · 2024Article
- Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations.Molecular neurobiology · 2024Article
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- The Frequency ofGlobal medical genetics · 2023Article
- Spinal muscular atrophy carrier frequency in Saudi Arabia.Molecular genetics & genomic medicine · 2022Article
- A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.NPJ genomic medicine · 2022Article
- Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.Frontiers in neurology · 2022Article
- Gene therapeutic strategies and relevant clinical trials in neuromuscular disorder in China.Gene therapy · 2020Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSpinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characterize the prevalence of SMA carrier among people in China. So, we conducted a systematic review and meta-analysis to obtain a reliable estimation of the prevalence of SMA carrier to characterize its epidemiology for the first time.
methodsWe systematically searched for articles in kinds of important electronic databases, including PubMed, Embase, Wanfang Database and China National Knowledge Infrastructure (CNKI) to identify all relevant literatures about carrier rates of SMA in China. The prevalence was performed by forest plot choosing random effect models. The publication bias was evaluated by means of funnel plots and Egger test. The sensitivity analysis was carried out by the method of omitting any literature at a time. Combined with the results of subgroup analysis, the source of heterogeneity was also discussed absolutely.
resultsA total of 10 studies published between 2005 and 2016 were included in our analysis at last. The sample size ranged from 264 to 107,611 in included studies. The random effect models of meta-analysis showed that the overall carrier rate of SMA was 2.0% (95% confidence interval [CI], 1.7%-2.3%) in a heterogeneous set of studies (I = 64%). There was a gradual rise trend observed in the SMA carrier rate during the study period. The funnel plots and Egger test (Coef = 0.02, t = -0.45, P = .667 > .05) showed no obvious potential risk of publication bias.
conclusionThe overall carrying rate of SMA was high as 2.0% and may be on a slow upward trend. So it was recommended that the countries should take active and effective measures to roll out routine prenatal screening and health genetic counseling for SMA as early as possible. What is more, further studies also need to be conducted to explore the etiology and epidemic factors of SMA to better control the risk of this common birth defect.
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