摘要
目的 探讨新生儿听力联合耳聋基因筛查用于重症监护病房新生儿听力筛查及诊断的意义。方法 选取2017年1~12月在新生儿重症监护病房住院的440例新生儿作为研究组,选取同期440例正常出生新生儿作为对照组,两组均进行自动听性脑干反应(AABR)及耳声发射(OAE)[初筛及复筛应用瞬态声诱发耳声发射(TEOAE),诊断应用畸变产物耳声发射(DPOAE)]听力筛查,并抽取足跟血进行耳聋基因筛查,分析结果。结果 研究组听力初筛未通过68例(15.45%),3月龄确诊先天性听力损失11例(2.50%),对照组初筛未通过24例(5.45%),确诊先天性听力损失1例(0.23%)。研究组耳聋基因筛查阳性16例(3.64%),其中,GJB2基因突变携带者10例(2.27%),SLC26A4基因突变携带者5例(1.14%),线粒体12S rRNA基因突变携带者1例(0.23%);对照组耳聋基因筛查阳性5例(1.14%),其中,GJB2基因突变携带者3例(0.68%),SLC26A4基因突变携带者1例(0.23%),线粒体12S rRNA基因突变携带者1例(0.23%),两组均未检出GJB3基因突变者。听力及耳聋基因联合筛查结果显示,研究组OAE及AABR联合耳聋基因筛查均未通过6例,5例确诊为听力异常;对照组OAE及AABR联合耳聋基因筛查均未通过1例,确诊为听力异常。结论 重症监护病房新生儿先天性听力损失发生率高,应用OAE及AABR进行听力筛查联合耳聋基因筛查,可早期诊断并干预听力障碍。
Objective To study the significance of neonatal hearing screening combined with deafness gene screening results of neonatal hearing diagnosis in the intensive care unit.Methods A total of 440 newborns in the neonatal intensive care unit in our hospital from January 2017 to December 2017 were used as the experimental groups,while,440 normal-born newborns were selected as the control group.AABR and OAE hearing screening were performed in the both groups of neonates,and heel blood was taken for deafness gene screening.Results In the experimental group,68 patients (15.45%) were positive for screening,and 11 patients (2.50%) were diagnosed at 3 months of age,24 cases (5.45%) were positive and 1 (0.23%) was diagnosed in the control group.In the experimental group,16 cases (3.64%) failed in deafness gene screening,including 10 cases of GJB2 gene carrier(2.27%),5 cases of SLC26A4 gene carrier(1.14%),and 1 case of mitochondrial 12S rRNA gene carrier (0.23%).In the control group,5 cases (1.14%) failed,including 3 cases of GJB2 gene carrier (0.68%),1 case of SLC26A4 gene and mitochondrial 12S rRNA gene carrier (0.23%).GJB3 gene carrying was not detected in the either group.Six cases of OAE and AABR combined with deafness gene screening failed,and 5 cases were diagnosed with hearing abnormalities in the experimental group compared with 1 case in the control group.The difference between the two groups was statistically significant (P<0.05).Conclusion Newborns in intensive care unit are high-risk population with hearing impairment.Combined OAE and AABR screening and deafness genetic screening can help diagnose and interfere with hearing impairment early.
作者
刘丽琴
马彦萍
张恩东
Liu Liqin;Ma Yanping;Zhang Endong(Weihai Maternal and Child Health Hospital,Weihai,264200,China)
出处
《听力学及言语疾病杂志》
CAS
CSCD
北大核心
2019年第4期388-391,共4页
Journal of Audiology and Speech Pathology
