耳聋基因与新生儿听力的同步筛查结果比较  

Comparison on results between deafness gene testing and newborn hearing screening

作　　者：沈沛[1] 余红[1] 刘丹[1] 杨晶群[1] 

机构地区：[1]绍兴市妇幼保健院儿保科,浙江绍兴312000

出　　处：《中国优生与遗传杂志》2015年第1期77-78,73,共3页Chinese Journal of Birth Health & Heredity

基　　金：浙江省公益性技术应用研究计划项目(2013C33213)

摘　　要：目的了解听力筛查与耳聋基因检测结果的不同意义,为新生儿大规模耳聋基因筛查的可行性和有效性提供理论依据。方法 2013年4月至2013年3月于绍兴市妇幼保健院出生的新生儿,其中有4063名新生儿接受了听力和耳聋基因的同步筛查,并对其结果进行对照和比较。结果 4063例新生儿中840例未通过听力筛查,231例携带耳聋基因。耳聋基因阳性231例中,152例听力筛查通过,听力筛查与耳聋基因阳性率有统计学差异。结论部分迟发型耳聋的儿童可通过新生儿耳聋基因筛查有效地进行基因预警,对新生儿进行听力及基因联合筛查具有临床可行性。Objective： By exploring the different meanings between hearing screening and deafness gene testing, this article provides strong theoretical basis for the feasibility and validity of universal newborn hearing screening. Methods： 4063 newborn babies born from April 2013 to March 2013 in shaoxing maternity hospital were accepted for universal heating screening and deafness gene testing. Then the results were compared. Results： In the 4063 babies, 840 babies failed the hearing screening stage. What＇ s more, in the 839 babies, 231 carders showed ＂refer＂ to the deafness gene test. Within these 231 carders, 152 babies passed the hearing screening, which can be the evidence of statistical difference. Conclusion： Some babies with late-onset hearing loss can be effectively foreseen by receiving deafness gene testing. This study assessed the security, feasibility and clinical value of these two methods.

关 键 词：耳聋基因 GJB2 GJB3 SLC 26A4 12Sr RNA 

分 类 号：R764[医药卫生—耳鼻咽喉科]