遗传性耳聋基因筛查在新生儿听力筛查中的应用价值

Application value of genetic screening for hereditary deafness in universal newborn hearing screening

目的探讨遗传性耳聋基因筛查在新生儿听力筛查(UNHS)中的应用价值。方法选择2018年10月至2019年10月在洛阳市妇幼保健院出生的新生儿3887例为研究对象,所有新生儿给予遗传性耳聋基因筛查和听力检查。结果3887例新生儿中,筛查出耳聋基因突变者201例,耳聋基因突变率为5.17%(201/3887)。不同性别、胎龄、出生体质量及分娩方式新生儿耳聋基因突变率比较差异均无统计学意义(P>0.05)。3887例新生儿中,经听力学评估最终确诊听力障碍28例,听力障碍发生率为0.72%(28/3887);不同性别、胎龄、出生体质量及分娩方式新生儿听力障碍发生率比较差异均无统计学意义(P>0.05)。耳聋基因突变新生儿和无耳聋基因突变新生儿听力障碍发生率分别为3.48%(7/201)、0.57%(21/3686),耳聋基因突变新生儿听力障碍发生率显著高于无耳聋基因突变新生儿(χ^(2)=18.724,P<0.05)。结论遗传性耳聋基因筛查有助于提高新生儿听力损伤检出率,为及早制定干预措施提供帮助。

Objective To investigate the application value of genetic screening for hereditary deafness in universal newborn hearing screening(UNHS).Methods A total of 3887 newborns born in Luoyang Maternal and Child Health Hospital from October 2018 to October 2019 were selected as the research subjects,and all the newborns were given genetic screening and hearing test for hereditary deafness.Results Among the 3887 newborns,201 cases were found to have deafness gene mutation,and the deafness gene mutation rate was 5.17%(201/3887).There was no significant difference in deafness gene mutation rate among the newborns with different gender,gestational age,birth mass and delivery mode(P>0.05).Among the 3887 newborns,28 newborns were diagnosed as hearing disorders by audiological evaluation,and the incidence of hearing disorders was 0.72%(28/3887).There was no significant difference in the incidence of hearing disorders among the newborns with different gender,gestational age,birth mass and delivery mode(P>0.05).The incidence of hearing disorders in the newborns with deafness gene mutation and the newborns without deafness gene mutation was 3.48%(7/201)and 0.57%(21/3686),respectively.The incidence of hearing disorders in the newborns with deafness gene mutation was significantly higher than that in the newborns without deafness gene mutation(χ^(2)=18.724,P<0.05).Conclusion The genetic screening of hereditary deafness is helpful to improve the detection rate of neonatal hearing impaired,and provide help for early intervention measures.