目的 分析天津市新生儿听力及耳聋基因联合筛查情况。方法 选择2018年1月1日—12月31日在天津市全部助产机构出生的新生儿作为研究对象，在知情告知自愿筛查的前提下进行新生儿听力及耳聋基因联合筛查。结果 102 570例新生儿中210例（0.2%）有不同程度听力障碍，其中双耳聋114例，单耳聋96例。72 866例进行耳聋基因筛查，检出耳聋基因变异3 924例（5.4%），其中单基因纯合变异（均质变异）146例，单基因复合杂合变异14例，多基因复合杂合变异68例，单基因杂合变异（异质变异）3 696例。GJB2、SLC26A4、GJB3及线粒体12SrRNA基因的变异检出率分别为4.8%、4.5%、0.4%和0.2%。进行听力学诊断的423例患儿中，听力障碍组耳聋基因变异率高于正常组;210例听力障碍患儿中，双耳聋组的耳聋基因变异率高于单耳聋组;114例双耳聋患儿中，重度极重度聋组的耳聋基因变异率高于轻中度聋组，差异均有统计学意义（P<0.05）。结论 常见耳聋基因筛查，为本地区医疗保健咨询提供参考，降低听力障碍发生率。

To analyze clinical results of newborn hearing combined with genetic screening in Tianjin. Methods Newborns born in all midwifery institutions in Tianjin from January 1 to December 31, 2018, were selected as the study population, and combined newborn hearing and deafness gene screening was performed under the premise of informed and voluntary screening. Results Among the 102,570 newborns, 210 (0.2%) had different degrees of hearing impairment, including 114 cases of bilateral hearing loss and 96 cases of unilateral hearing loss. 72,866 cases were screened for deafness genes, and 3924 (5.4%) newborns were detected with genetic variants, including 146 single gene homogeneous variants, 14 single gene compound heterozygous variants, 68 multi-gene compound heterozygous and 3696 single gene heterozygous variants. The detection rates of GJB2, SLC26A4, GJB3 and mitochondrial 12SrRNA gene variants were 4.8%, 4.5%, 0.4% and 0.2%, respectively. Among the 423 children who underwent audiological diagnosis, the deafness gene variation rate was higher in the hearing impaired group than in the normal group; among the 210 hearing impaired children, the deafness gene variation rate was higher in the binaural deafness group than in the unilateral deafness group; among the 114 binaural deaf children, the deafness gene variation rate was higher in the severe to profound deafness group than in the mild to moderate deafness group, and the differences were statistically significant (P<0.05). Conclusion This study reports the incidence of hearing impairment and the detection of common deafness genes in newborns in Tianjin, and provides a reference for healthcare consultation in this region.