Shuilian Chen1, Zhijiang Liang2, Baoxin Chen3, Fei Yao1, Guanhao Huang1, Juan Zhu4, Yuping Li2, Shuang Gao2, Qingguo Zhao5. 1. Health Care Dept, Guangdong Women and Children's Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China. 2. Department of Public Health, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China. 3. Department of Health Management, Futian Hospital for Prevention and Treatment of Chronic Disease, Shenzhen, China. 4. Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China. 5. Epidemiological Research Office of Key Laboratory of Male Reproduction and Genetics, Family Planning Research Institute of Guangdong Province, Guangzhou, Guangdong, China. Electronic address: zqgfrost@126.com.
Abstract
OBJECTIVE: The causative genes associated with autosomal recessive non-syndromic hearing loss (ARNSHL) have been identified, in order of prevalence are GJB2, SLC26A4, MYO15A, OTOF, CDH23, and TMC1. To evaluate the prevalence of deafness-associated mutations in neonates and the clinical value of screening, we performed a meta-analysis of clinical trials. METHODS: The main criteria used to select articles was that the studies were designed to detect deafness genetic mutations in Chinese's neonates, and the screening kits were designed to detect 9 or 20 sites in four deafness-causative genes. The combined effect of genetic screening was measured by the pooled prevalence of mutations with 95% confidence intervals (CIs). The Random Model was used to estimate the pooled prevalence of mutations. RESULTS: We included 18 studies (a total of 261766 neonates) from studies using 9-mutation screening kit, and 15 studies (a total of 131158 neonates) from studies using the 20-mutation screening kit to conduct meta-analysis. The Random Model was used to estimate the pooled prevalence of mutations due to large heterogeneity (9 sites: I2 = 89.1%, P = 0.0000; 20 sites: I2 = 97.3%, P = 0.0002). The pooled prevalence of mutations in 9 sites group was 0.043 (95%CI:0.039-0.047, Z = 21.49, P = 0.000)and 20 sites group was 0.047(95%CI:0.041-0.053, Z = 15.84, P = 0.000). CONCLUSIONS: The prevalence of deafness-associated mutations in neonates in China is 4.7%; Based on the current detection technology and deafness genetics knowledge, it may be more reasonable to offer 1494C > T and 1555A > G mutation screening to pregnant women. Decision makers should think about how to use the current deafness genetic screening to amplify the effectiveness of hearing screening.
OBJECTIVE: The causative genes associated with autosomal recessive non-syndromic hearing loss (ARNSHL) have been identified, in order of prevalence are GJB2, SLC26A4, MYO15A, OTOF, CDH23, and TMC1. To evaluate the prevalence of deafness-associated mutations in neonates and the clinical value of screening, we performed a meta-analysis of clinical trials. METHODS: The main criteria used to select articles was that the studies were designed to detect deafness genetic mutations in Chinese's neonates, and the screening kits were designed to detect 9 or 20 sites in four deafness-causative genes. The combined effect of genetic screening was measured by the pooled prevalence of mutations with 95% confidence intervals (CIs). The Random Model was used to estimate the pooled prevalence of mutations. RESULTS: We included 18 studies (a total of 261766 neonates) from studies using 9-mutation screening kit, and 15 studies (a total of 131158 neonates) from studies using the 20-mutation screening kit to conduct meta-analysis. The Random Model was used to estimate the pooled prevalence of mutations due to large heterogeneity (9 sites: I2 = 89.1%, P = 0.0000; 20 sites: I2 = 97.3%, P = 0.0002). The pooled prevalence of mutations in 9 sites group was 0.043 (95%CI:0.039-0.047, Z = 21.49, P = 0.000)and 20 sites group was 0.047(95%CI:0.041-0.053, Z = 15.84, P = 0.000). CONCLUSIONS: The prevalence of deafness-associated mutations in neonates in China is 4.7%; Based on the current detection technology and deafness genetics knowledge, it may be more reasonable to offer 1494C > T and 1555A > G mutation screening to pregnant women. Decision makers should think about how to use the current deafness genetic screening to amplify the effectiveness of hearing screening.