昆明地区新生儿听力及聋病易感基因联合筛查

Newborn Hearing Screening with Hearing and Deafness Predisposing Genes in Kunming

目的探讨新生儿的听力及聋病易感基因联合筛查的临床价值.方法对748例新生儿进行听力及聋病易感基因联合筛查,听力筛查采用丹麦(MADSEN公司)生产的AccuScreen全功能自动耳声发射听力筛查仪进行诱发瞬态耳声发射法(transient evoked otoacoustic eission,TEOAE)筛查,聋病易感基因筛查3个最为常见的聋病基因,即mtDNAA1555G、GJB2、SLC26A4.结果 748例新生儿听力初次筛查(初筛)未通过222例;623例进行了第2次筛查(复筛),未通过27例;744例做了聋病易感基因筛查,聋病易感基因筛查阳性率15‰.结论新生儿的听力筛查联合聋病易感基因筛查,可早期发现听力损失及聋病基因的携带者.

Objective To investigate the clinical value of the universal newborn hearing screening with hearing and deafness predisposing genes. Methods Seven hundred and forty-eight newborns were accepted for universal newborn hearing screening with hearing and deafness predisposing genes. Transient evoked otoacoustic emission （TEOAE） was used for hearing screening with AccuScreen full-featured automatic otoacoustic emission hearing screening device produced by MADSEN company. Three common deafness genes including mtDNA A1555G, GJB2 and SLC26A4 were detected. Results In the 748 cases, there were 222 cases showed ＂refer＂ at the first step of hearing screening. In the second hearing screening, there were 27 cases of 623 cases still showed ＂refer＂. The carrying rate of deafness gene was 15%c in 744 cases with deafness predisposing genes screening. Conclusion The newborn hearing screening with hearing and deafness predisposing genes can facilitate early detection for hearing loss and the carrier of deafness gene.