摘要目的：探讨听力与耳聋易感基因联合筛查在听力损失高危新生儿中的必要性及临床意义。方法2013年7月至2014年6月，在广东省妇幼保健院新生儿科住院的患儿，按照有无听力损失的高危因素分为高危组（n=3129）及对照组（n=5106），出院前采用耳声发射及听性脑干反应进行听力筛查，并采用耳聋易感基因芯片检测常见的4个耳聋相关基因（GJB2、GJB3、SLC26A4和线粒体DNA 12S rRNA）的20个突变位点。采用χ2检验比较2组间听力筛查通过率及基因突变情况。结果高危组患儿耳声发射、听性脑干反应及2者均未通过率分别为11.92%（373/3129）、10.32%（323/3129）和4.83%（151/3129），均高于对照组[分别为5.03%（257/5106）、6.56%（335/5106）和2.02%（103/5106）]，差异有统计学意义（χ2值分别为130.265、37.354和51.196，P值均为0.000）。高危组患儿整体耳聋易感基因突变率为5.63%（176/3129），其中GJB2和SLC26A4基因突变率分别为3.04%（95/3129）及2.40%（75/3129），均高于对照组[分别为3.15%（161/5106）、2.04%（104/5106）及1.06%（54/5106）]，差异有统计学意义（χ2值分别为30.301、8.216和22.517，P值均＜0.01）。线粒体DNA 12S rRNA及GJB3基因突变率较低，高危组与对照组差异无统计学意义[0.19%（6/3129）与0.06%（3/5106）；0.03%（1/3129）与0.00（0/5106）；P值均＞0.05]。携带耳聋易感基因突变的患儿耳声发射及听性脑干反应未通过率分别为9.50%（32/337）和10.39%（35/337），均高于未携带耳聋易感基因突变者[分别为1.14%（90/7898）和1.29%（102/7898）]（χ2值分别为154.621和163.399，P值均为0.000）。结论针对具有听力损失高危因素的患儿进行联合筛查效果好，具有重要临床意义。

abstractsObjectiveTo investigate the significance of hearing screening combined with gene screening for neonates with high-risk of hearing impairment.MethodsNeonates admitted to the Neonatal Department of Guangdong Women and Children Hospital between July 2013 and June 2014 were enrolled in this study. They were divided into high-risk group (with high-risk for hearing impairment) (n=3 129), and control group (n=5 106). Neonate hearing screening was carried out using otoacoustic emission and automated auditory brainstem response. Blood samples were collected using a standard protocol for detecting the mutations of four common deafness genes, includingGJB2,GJB3,SLC26A4 and mitochondrial 12s rRNA.Chi-square test&nbsp;was used to compare the differences of the pass rate of hearing screening and positive rate of gene mutations between the two groups.ResultsThe rates of failure on otoacoustic emission, automated auditory brainstem response or both in the high-risk group were 11.92% (373/3 129), 10.32% (323/3 129) and 4.83% (151/3 129), respectively, higher than those in the control group [5.03%(257/5 106), 6.56%(335/5 106) and 2.02% (103/5 106)] (χ2=130.265, 37.354 and 51.196, allP=0.000). In the high-risk group, the overall positive rate of gene mutations was 5.63% (176/3 129), and theGJB2 andSLC26A4 gene mutation rates were 3.04% (95/3 129) and 2.40% (75/3 129)], all higher than the control group [3.15% (161/5 106), 2.04% (104/5 106) and 1.06% (54/5106)] (χ2=30.301, 8.216 and 22.517, allP<0.01). But the mitochondria 12S rRNA gene andGJB3 gene mutation rates were the same in high-risk group and control group [0.19% (6/3 129) vs 0.06% (3/5 106); 0.03% (1/3 129) vs 0.00%(0/5 106), bothP>0.05]. The rates of failure on otoacoustic emission and automated auditory brainstem response of the neonates with deafness gene mutations were 9.50% (32/337) and 10.39% (35/337), respectively, higher than the neonates without [1.14% (90/7 898) and 1.29% (102/7 898)] (χ2=154.621 and 163.399, both P=0.000).ConclusionCombined hearing screening is of clinical significance for neonates with high-risk of hearing impairment.