目的探讨耳聋基因检测对孕前妇女筛查的应用意义。方法选择2015年1月-2016年6月在该院优生门诊咨询的孕前检查妇女,在知情同意原则下,应用实时荧光PCR法进行中国人常见的7个位点耳聋基因检测,根据结果进行优生指导。结果在631例孕前妇女检测中,共24例检测出基因突变,总突变率3.8%,其中SLC26A4基因IVS7-2 A>G杂合突变8例,2168 A>G杂合突变2例;GJB2基因299~300del杂合突变2例,235del C杂合突变11例,线粒体基因12S rRNA 1555A>G纯合突变1例。结论通过对孕前妇女进行耳聋基因检测,预防耳聋患儿出生有重要价值。 Objective To investigate the significance of deafness gene testing in prenatal screening of women. Methods From January 2015 to June 2016, prenatal examination of women consulted in the prenatal clinic of the hospital, under the principle of informed consent, real-time fluorescent PCR was used to detect the Chinese common deafness gene at the seven loci, according to the results of eugenics guide. Results Among 631 pre-pregnancy women, a total of 24 mutations were detected in all the cases, with a total mutation rate of 3.8%. Among them, 8 cases of IVS7-2 A> G heterozygous mutation and 2 cases of 2168 A> G heterozygous mutation of SLC26A4 gene were detected. GJB2 gene 2 cases of 299-300del heterozygous mutation, 11 cases of 235del C heterozygous mutation and 1 case of mitochondrial gene 12S rRNA 1555A> G homozygous mutation. Conclusions It is of great value to prevent the birth of children with deafness by testing the deafness gene of pregnant women.