新生儿耳聋基因与听力联合筛查300例结果报告.docVIP

精品论文 参考文献 新生儿耳聋基因与听力联合筛查300例结果报告 湖南省郴州市第一人民医院中心医院 423000 　　【摘 要】目的：研究探讨新生儿耳聋基因与听力联合筛查对于新生儿听力障碍诊断及防治的临床应用价值。方法：抽取我院2015年6月到2016年2月间分娩的300名新生儿作为研究对象，所有新生儿均给予耳聋基因与听力联合筛查，回顾性分析新生儿的基本资料及筛查的结果。结果：300例新生儿经耳聋基因筛查，共筛出异常患儿16例，异常率为5.33%，2例被确诊为致病突变，诊断符合率为12.5%，疾病检出率为0.67%；经听力筛查，经初筛复筛后不通过的有3例，确诊为听力障碍的有1例，听力障碍的检出率为0.33%。联合筛查共筛出致病突变及听力障碍患儿3例，疾病筛出率为1.0%，均高于单独的耳聋基因筛查（0.67%）或听力筛查（0.33%）结果。结论：对新生儿进行听力和耳聋基因联合筛查对于早期发现迟发性耳聋或潜在性耳聋患儿并做出积极干预具有重要意义，值得在临床上推广。 　　【关键词】新生儿；听力筛查；耳聋基因筛查 　　[Abstract] Objective：To study the clinical application value of combined screening of newborn hearing loss gene and hearing for the diagnosis and prevention of neonatal hearing impairment. Methods：in our hospital from June 2015 to February 2016 delivery of 300 newborns as the research object，all the infants were given deafness genes and hearing screening，review of basic data and analysis the results of neonatal screening. Results：300 cases with neonatal deafness gene screening，there were 16 cases of abnormal patients，the abnormal rate was 5.33%，2 cases were diagnosed as pathogenic mutations，diagnostic coincidence rate was 12.5%，the disease detection rate was 0.67%；after hearing screening，by screening screening by 3 cases，diagnosed with hearing disorder of the 1 cases，the detection of hearing impairment rate was 0.33%. Screening for 3 cases of the disease causing mutation and hearing loss，the screening rate was 1%，which was higher than that of the single deafness gene screening（0.67%）or hearing screening（0.33%）. Conclusion：the combined screening of hearing and hearing loss in neonates is important for early detection of delayed deafness or potential deafness，and it is worthy to be popularized in clinical practice. 　　[Key words] newborn；hearing screening；deafness gene screening 　　 　　 　　新生儿听力障碍或残疾是临床比较常见的一类残障，在我国所有残疾人中占到约14%[1]。听力障碍不仅会给患儿自身带来严重的身心创伤，还会给家庭、社会带来沉重的负担。调查研究表明，出生后4-9个月是新生儿语言发育的重要阶段，对于早期发现听力障碍具有十分重要的意义[2-3]。对新生儿进行准确的听力筛查是预防语言发育障碍、聋哑等的重要环节，也是对存在听力损害的新生儿进行及早干预治疗，改善预后的有效步骤[4]。本文就在我院分娩的新生儿300例作为研究对象，探讨耳聋基