GJB2基因检测联合听力筛查在新生儿听力损失筛查中的应用  

Results of GJB2 gene combined with hearing screening in neonates and its diagnostic value

作　　者：赵雪卉[1] 刘宗印[2] 张娟[1] 唐凯[3] 蒋晓颖 ZHAO Xue-hui;LIU Zong-yin;ZHANG Juan;TANG Kai;JIANG Xiao-ying(Department of Obstetrics,Baoji Maternal and Child Health Hospital,Baoji 721000,Shaanxi,CHINA;Medical and Educational Department,Baoji Maternal and Child Health Hospital,Baoji 721000,Shaanxi,CHINA;Genetic Office,Baoji Maternal and Child Health Hospital,Baoji 721000,Shaanxi,CHINA)

机构地区：[1]宝鸡市妇幼保健院产科,陕西宝鸡721000 [2]宝鸡市妇幼保健院医教科,陕西宝鸡721000 [3]宝鸡市妇幼保健院遗传室,陕西宝鸡721000

出　　处：《海南医学》2020年第10期1272-1274,共3页Hainan Medical Journal

摘　　要：目的探讨新生儿听力筛查联合GJB2基因检测在新生儿听力损失筛查中的应用价值。方法选择2017年6月至2018年6月于宝鸡市妇幼保健院产科分娩的1 220例足月新生儿为研究对象,所有新生儿均经听力筛查和GJB2基因多态性检测,听力复筛阳性和GJB2基因检测突变新生儿均进入听力学诊断。以听力学诊断结果为准,分析听力筛查、GJB2基因检测以及联合检测在新生儿筛查中的价值。结果 1 220例新生儿听力筛查阳性35例,而GJB2基因突变55例,其中IVS7-2 A>G比例最高,为30.91%,其次为235 del C,比例为25.45%;以听力学诊断为准,听力初筛诊断新生儿听力损失灵敏度为26.67%,特异度为91.70%,阳性预测值为3.85%,阴性预测值为99.01%;听力复筛诊断新生儿听力损失灵敏度为53.33%,特异度为97.76%,阳性预测值为22.86%,阴性预测值为99.41%;GJB2基因检测诊断新生儿听力损失灵敏度为80.00%,特异度为96.43%,阳性预测值为21.82%,阴性预测值为99.74%。以听力筛查和GJB2基因检测结果均阳性为阳性判断标准,联合听力筛查和GJB2基因检测对新生听力损失的诊断灵敏度率为86.67%,特异度为99.75%,阳性预测值为81.25%,阴性预测值为99.83%。结论新生儿听力筛查、GJB2基因检测是新生儿听力损失的有效筛查手段,联合两种方法检测有助于提高新生儿听力损失检出率,减少漏诊。Objective To explore the application value of neonatal hearing screening and GJB2 gene detection in neonatal hearing loss screening. Methods A total of 1 220 full-term newborns delivered in Department of Obstetrics,Baoji Maternal and Child Health Hospital from June 2017 to June 2018 were selected as subjects. All newborns were screened for hearing and GJB2 gene polymorphism. All newborns with positive hearing screening and GJB2 gene mutation entered the audiological diagnosis. Based on the results of audiological diagnosis, the value of hearing screening,GJB2 gene detection, and combined detection in neonatal screening was analyzed. Results Of the 1 220 newborns, 35 were positive for hearing screening. Among 1 220 neonates, 55 had GJB2 gene mutation, of which the ratio of IVS7-2 A>G was the highest(30.91%), followed by 235 del C(25.45%). The sensitivity, specificity, positive predictive value, and negative predictive value were 26.67%, 91.70%, 3.85%, and 99.01%, respectively. The sensitivity, specificity, positive predictive value, and negative predictive value in the diagnosis of neonatal hearing loss were 53.33%, 97.76%, 22.86%,and 99.41% for of hearing screening, 80.00%, 96.43%, 21.82%, and 99.74% for GJB2 gene detection, and 86.67%,99.75%, 81.25% and 99.83% for combined detection. Conclusion Neonatal hearing screening and GJB2 gene detection are effective screening methods for neonatal hearing loss. Combining the two methods can improve the detection rate of neonatal hearing loss and reduce missed diagnosis.

关 键 词：新生儿 听力筛查 听力损失 GJB2基因 杂合突变 纯合突变 

分 类 号：R722[医药卫生—儿科]