发育医学电子杂志Issue(4)：219-223,5.
高危新生儿听力和聋病易感基因联合筛查临床研究
Clinic research on combined hearing and deafness susceptivity genes screening among newborns with high risk factors
张章 1戴怡蘅 1李振安 2余凤慈 2刘莹2
作者信息
- 1. 南方医科大学附属佛山妇幼保健院新生儿科，广东佛山 528000
- 2. 南方医科大学附属佛山妇幼保健院耳鼻咽喉科，广东佛山 528000
- 折叠
摘要
Abstract
Objective To investigate the clinic signiifcance of combining the original hearing screening with deafness susceptibility genes screening among newborns with high risk factors.Method920 newborns with hearing loss risk factors from the neonatology ward were chosen as the study group, and 938 healthy newborns from the Maternity ward were chosen as the control group. Films of heel blood in both groups were collected to test. Eight mutations of the three genes (GJB235delG,176-191del16,235delC,299-300delAT;SLC26A4IVS7-2A>G,2168A>G; MT12SrRNA1494C >T,1555A >G) were detected. Newborns in Both groups were received hearing screening.Audiology diagnosis would be applied for those who failed to pass the hearing screening when they were 3 months old.ResultsIn the study group, 35(3.8%) newborns were deafness predisposing gene carriers. 34(3.7%) newborns were diagnosed as hearing loss and 15(1.6%) of themwere diagnosed as severe hearing loss. 30(85.7%) carriers of deafness predisposing gene passed the hearing screening.In the control group 21(22.3%) newborns were deafness predisposing gene carriers. 4(0.4%) were diagnosed as hearing loss, and 1(0.1%) were diagnosed as severe hearing loss. 17(1.8%) carriers of deafness predisposing gene passed the hearing screening. The Overall carrier frequency of three genes and detection rate of hearing loss or severe hearing loss were signiifcantly different in the study group than in the control group. The rate of deafness predisposing gene carriers who passed the hearing screening was signiifcantly different in study group from in control group.Conclusions The occurrence rate of hearing loss and carrying rate of deafness gene mutation among newborns with high risks are higher than those healthy newborns. Combining newborns hearing screening with deafness susceptibility genes screening can help to identify newborns who may pass the regular hearing screening but with high deafness risks and late-onset deafness susceptibility. It is of guiding signiifcance to early intervention, regular follow-up and deafness preventing.关键词
聋/多态现象/遗传/重症监护病房/婴儿,新生Key words
Deafness/Polymorphism, genetic/Intensive care units, neonatal引用本文复制引用
张章,戴怡蘅,李振安,余凤慈,刘莹..高危新生儿听力和聋病易感基因联合筛查临床研究[J].发育医学电子杂志,2015,(4):219-223,5.
