高危新生儿耳聋易感基因筛查结果分析

目的对高危新生儿耳聋易感基因进行筛查并对筛查结果进行分析。方法选取新生儿科725例住院幼儿,根据有无听力损失的高危因素分为高危组和对照组,采用听性脑干(AABR)及耳声发射(OAE)筛查听力,使用耳聋易感基因芯片进行基因筛选。结果高危组新生儿听力丧失的高危因素依次为早产、新生儿高胆红素血症、NICU住院时间≥5 d;高危组新生儿AABR、OAE及两项测试均不通过率高于对照组(P<0.05),基因突变率高于对照组(P<0.05)。有听力障碍家族史新生儿耳聋基因突变率高于无耳聋家族史新生儿(P<0.05)。结论结合AABR、OAE听力筛查与耳聋易感基因筛查可提高临床耳聋检出率。

Screening Results of Susceptibility Genes in High-risk Neonates

Objective To screen high-risk neonatal deafness susceptibility genes and analyze the screening results. Methods A total of 725 infants were selected and divided into the high risk group (n=200) and the control group (n=525). During hospitalization, auto auditory brainstem response (AABR) test and OTO acoustic emissions (OAE) were performed to screen the hearing of the infants, and the deafness susceptibility gene chip was used for gene screening. The passing rate of hearing screening and gene mutations were recorded. Results The high-risk factors of hearing loss in the high-risk group were premature delivery, neonatal hyperbilirubinemia and length of stay in NICU ≥5 d. The non-passing rates of AABR, OAE and both tests in the high risk group were higher than those in the control group ( P <0.05). The mutation rate of the high-risk group was higher than that of the control group ( P <0.05). The rate of deafness gene mutation was higher in infants with family history of hearing impairment than those without ( P <0.05). Conclusion AABR and OAE hearing screening combined with screening of deafness susceptibility genes can improve the detection rate of deafness.