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

目的探讨高危新生儿听力和聋病易感基因联合筛查的临床意义。方法选择2012年5月至2014年2月入住南方医科大学附属佛山市妇幼保健院新生儿重症监护室的920例具有听力损失高危因素的新生儿为研究组,选取同期产后区938例健康新生儿为对照组,于生后检测GJB2基因35del G、176-191del16、235del C、299-300del AT;SLC26A4基因IVS7-2A>G、2168A>G;线粒体12Sr RNA基因1494C>T、1555A>G等3个基因8个突变位点;听力筛查复筛未通过者于3月龄行听力学诊断。结果研究组920例检出35例聋病基因携带,3个基因突变的总体携带率3.8%;检出听力障碍34例(3.7%)、其中重度以上听力障碍15例(1.6%);30例(85.7%)聋病基因携带者通过了听力筛查。对照组938例检出21例聋病基因携带,3个基因突变的总体携带率2.2%;检出听力障碍4例(0.4%)、重度以上听力障碍1例(0.1%);17例(1.8%)聋病基因携带者通过了听力筛查。研究组听力损失和重度以上听力损失检出率、聋病基因突变的总携带率及聋病基因携带者的听力筛查通过率与对照组比较差异均有显着性(均P<0.05)。结论高危新生儿听力障碍的检出率和聋病基因突变携带率均高于正常新生儿;采用听力和聋病易感基因联合筛查能及时发现常规通过听力筛查但具有耳聋高危因素和迟发性聋病遗传因素的新生儿,对早期干预、定期随访、减少聋病发生具有指导意义。

Objective To investigate the clinic significance of combining the original hearing screening with deafness susceptibility genes screening among newborns with high risk factors. Method 920 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(GJB2 35 del G, 176-191del16, 235 del C, 299-300 del AT; SLC26A4 IVS7-2A>G, 2168A>G; MT 12 Sr RNA 1494 C >T, 1555 A >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. Results In 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 them were 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 significantly different in the study group than in the control group. The rate of deafness predisposing gene carriers who passed the hearing screening was significantly 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 significance to early intervention, regular follow-up and deafness preventing.