新生儿听力与聋病易感基因联合筛查模式探讨

目的 采用物理性听力筛查和飞行时间质谱检测技术对新生儿进行听力与聋病易感基因联合筛查,探讨建立适宜推广的新生儿听力与基因联合筛查标准模式.方法 选择2014年7月至2015年7月深圳市福田区4家产科医院出生的6763例新生儿为研究对象,经新生儿监护人知情同意,对其进行听力及聋病易感基因同步筛查,对结果 进行统计分析,并初步建立新生儿听力及聋病易感基因联合筛查的标准化模式与规范.结果 在6763例新生儿中,GJB2基因检出率为1.83%;SLC26A4基因检出率为1.60%;线粒体12SrRNA基因检出率为0.55%;GJB3基因检出率为0.49%.携带GJB2基因的患儿听力筛查未通过率为32.2%;携带SLC26A4基因的患儿听力筛查未通过24例,84例听力初筛通过;在线粒体12SrRNA基因突变未通过筛查37例中,30例m.1555A>G突变者听力筛查通过28例,占75.68%,7例m.1494C>T突变者听力筛查通过7例,占18.92%;在GJB3基因突变未通过的33例中,GJB3538C>T位点未通过18例,听力筛查通过15例,占45.45%,GJB3547G>A位点未通过15例,听力筛查通过12例,占36.36%.基因检测正常与异常的新生儿进行听力筛查结果 比较差异有统计学意义(χ2=12.502,P=0.006<0.05).结论 将新生儿听力筛查与耳聋基因筛查相结合,两者互补,并初步建立聋病防控的新模式,对早期发现迟发性、药物性基因携带高危人群进行干预随访,从基因水平弥补了听力筛查的不足,该筛查模式在临床上具有应用价值和意义.

Discussion of combined screening model for newborns hearing and deafness predisposing genes

Objective To perform hearing and deafness predisposing genes combined screening for newborns by using physical audiometry technology and time of flight mass spectrometry ( TOF-MS) detection and to establish an easily extended standardized model of newborns hearing and genes combined screening. Methods Totally 6763 newborns born during July 2014 to July 2015 in 4 maternity hospitals in Futian District of Shenzhen were selected. After informed consent of neonatal guardians, they accepted hearing and deafness predisposing genes combined screening. The results were statistically analyzed. And standardized model of newborns hearing and genes combined screening was established preliminarily. Results Among 6763 newborns, the detection rate of GJB2 gene was 1. 83%, that of SLC26A4 gene was 1. 60%, that of mitochondria 12SrRNA gene was 0. 55%, and that of GJB3 gene was 0. 49%. The fail rate of hearing screening in newborns with GJB2 gene was 32. 2%. A total of 24 cases with SLC26A4 gene didn't pass the hearing screening, while 84 cases with SLC26A4 gene passed the primary hearing screening. Among 37 cases with mitochondria 12SrRNA genetic mutations who didn' t pass genetic screening, 28 of 30 cases with m. 1555A>G mutation passed the hearing screening, accounting for 75. 68%, and the other seven cases with m. 1494C>T all passed the hearing screening, accounting for 18. 92%. Among the 33 cases with GJB3 genetic mutations who didn't pass genetic screening, 18 cases didn't pass GJB3538C>T and 15 cases passed the hearing screening, accounting for 45. 45%, while the other 15 cases didn' t pass GJB3547G>A but 12 cases passed the hearing screening, accounting for 36. 36%. There were significant differences in hearing screening between the normal and abnormal neonates in genetic testing (χ2 =12. 502, P =0. 006 <0. 05). Conclusion Combining newborns hearing screening and deafness predisposing genes screening and preliminarily establishing a new model for the prevention and control of deafness to intervene and follow-up in early detected high-risk group with delayed or drug induced gene can make up for hearing screening deficiencies at the genetic level. It is of great application value and significance.