Analysis of combined screening results for hearing and deafness in 842 newborns in Dalian
10.3760/cma.j.cn115455-20220627-00581
- VernacularTitle:大连市842例新生儿听力及耳聋基因联合筛查结果分析
- Author:
Huiyun YANG
1
;
Shijun LI
;
Jing ZHANG
;
Wenxiu ZHU
;
Xiaoxue LIU
;
Ming SHI
Author Information
1. 大连医科大学检验医学院，大连 116044
- Keywords:
Deafness;
Hearing tests;
Combined hearing and gene screening;
Combined probe anchoring polymerization sequencing;
Heterozygous mutation
- From:
Chinese Journal of Postgraduates of Medicine
2023;46(5):461-465
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the results of the joint screening of newborn hearing and deafness genes in Dalian to provide a reference for the prevention and control of hereditary deafness.Methods:Eight hundred and forty-two neonates born in Dalian Women and Children′s Medical Group from January 1, 2022 to May 30, 2022 were screened retrospectively, using AABR (automatic brainstem evoked potential). And 20 mutation sites of common genetic deafness 4 genes , including GJB2, GJB3, SLC26A4 (PDS) and mitochondrial genes associated with drug-induced deafness (MT-RNRI)(12SrRNA), were detected by high-throughput sequencing.Results:Among the 842 newborns, 840 passed hearing screening (99.8%); 36 cases (4.3%) passed the hearing screening but not the hearing loss gene screening; 804 cases passed through the both screening (95.5%); 2 cases (0.24%) failed in the both screening. 38 cases of deafness gene mutations were detected, with a total carrying rate of 4.51% (38/842). Among them, the carrying rates of heterozygous mutations in GJB2, GJB3, SLC26A4 (PDS), MT-RNRI (12SrRNA) were 1.90%, 0.24%, 1.30%, and 0.95%, respectively. The carrying rates of GJB2/GJB3 composite heterozygous mutations were 0.12%.Conclusions:The combined screening of neonatal hearing and deafness genes can reduce the missed rate of hearing screening. The carrier rate of neonatal deafness gene in Dalian is 4.51%, with the highest GJB 2 carrier rate, followed by SLC26A4 (PDS) carrier rate.
