东莞市遗传性耳聋一级预防与遗传咨询

Primary prevention and genetic counseling of hereditary deafness in Dongguan

目的建立适合东莞地区遗传性耳聋一级预防模式,通过遗传咨询和生育指导,降低遗传性耳聋的发生率和患儿出生率,以促进遗传性耳聋防治工作的迁移。方法利用我市孕前免费体检政策,采集夫妻双方外周血,采用MALDITOF MS技术进行耳聋相关基因检测与分析,并根据检测结果进行遗传咨询和生育指导,帮助耳聋基因突变携带者家庭做出最适合自己的选择。结果1000对夫妻中79对检出耳聋相关基因突变,其中双方均检出相关基因突变者共6对夫妻,而仅一方检出相关基因突变者共73对,其中6对夫妻列为高风险夫妻,建议产前诊断或植入前诊断,其余建议自然妊娠,并建议新生儿耳聋基因筛查和干预。结论孕前耳聋相关基因突变携带者筛查在降低遗传性耳聋发生率和患儿出生率方面具有重要意义。

Objective:To establish a primary prevention model for hereditary deafness in Dongguan area,through genetic counseling and reproductive guidance to reduce the incidence of hereditary deafness and the birth rate of children,so as to promote the migration of prevention and treatment of hereditary deafness.Methods:Using the free pre-pregnancy physical examination policy in our city,we collected the peripheral blood of couples,used MALDI-TOF MS technology to detect and analyze deafness-related genes,and carried out genetic counseling and reproductive guidance according to the results,to help families of deaf gene mutation carriers make the most suitable choice.Results:79 out of 1000 couples were found to have deafness-related gene mutations,including 6 couples with related gene mutations detected by both,and 73 couples by only one of both.Six couples were classified as high-risk couples.Prenatal diagnosis or preimplantation diagnosis were recommended.The rest suggested natural pregnancy but gene screening for neonatal deafness.Conclusion:Screening carriers of pre-pregnancy deafness-related gene mutations is of great significance in reducing the incidence of hereditary deafness and the birth rate of children.