遗传性耳聋基因筛查在新生儿听力筛查中的应用意义

Application significance of hereditary deafness gene screening in neonatal hearing screening

目的探讨在新生儿听力筛查中应用遗传性耳聋基因筛查的意义。方法选择本科室1 200例新生儿进行研究,所有新生儿均在出生后48~72 h实施新生儿听力初筛,并在出生72 h内采集新生儿足跟血实施遗传性耳聋常见基因筛查,分析总结新生儿听力筛查结果。结果 1 200例新生儿听力初筛阳性率为8.67%,复筛阳性率为5.77%,新生儿听力障碍检出率为0.50%。1 200例新生儿实施新生儿遗传性耳聋基因筛查检出易感基因携带携带率为5.17%,实施新生儿听力初筛未通过且携带耳聋基因突变新生儿7例,确诊听力障碍3例。初筛通过新生儿耳聋基因突变携带率5.02%与初筛未通过新生儿6.73%比较,差异不明显(P>0.05)。复查为听力障碍新生儿耳聋基因突变携带率50.00%较复查为非听力障碍新生儿4.08%明显升高(P<0.05)。结论在新生儿听力筛查中应用遗传性耳聋基因筛查可有效辅助听力诊断。

Objective To explore the significance of hereditary de afness gene screening applied in neonatal hearing screening. Methods A total of 1 200 neonates were enrolled and studied in our department. All the newborns carried out neonatal hearing screening at 48-72 h after birth, and neonatal heel blood was collected within 72 h of birth. The gene screening for hereditary deafness was performed and the results of neonatal hearing screening were analyzed and summarized. Results The positive rate of 1 200 newborns with hearing screening was 8.67%, the positive rate of rescreening was 5.77%, and the detection rate of newborn deafness was 0.50%. A total of 1 200 neonates carried out hereditary deafness gene screening and the susceptibility gene carrying rate was 5.17%. There were 7 cases of neonatal deafness who did not pass and had deafness gene mutations, and 3 cases were diagnosed as hearing impairment. There was no significant difference in the incidence of neonatal deafness gene mutation carrying rate between newborns who passed the first screening（5.02%） and non-pass newborns（6.73%）（P〉0.05）. The rate of deafness gene mutations in neonates with hearing impairment in rescreening（50.00%） was significantly higher than 4.08% in neonates who had no hearing impairment in rescreening（P〈0.05）. Conclusion Hereditary deafness gene screening applied in neonatal hearing screening can effectively assist in hearing diagnosis.