新生儿听力与聋病易感基因联合筛查的临床研究

A Clinical Study of 2788 Newborns Screened for Hearing and Gene

目的探讨新生儿听力与聋病易感基因联合筛查的必要性和可行性。方法对2007年11月～2008年8月间洛阳市妇女儿童医疗保健中心出生的2788例新生儿进行听力和聋病易感基因同步筛查,采用筛查型耳声发射仪进行听力初筛和复筛,未通过复筛的新生儿转诊至指定的听力筛查诊断中心行听力学评估和医学诊断;所有新生儿出生时采取脐带血,采用限制性内切酶酶切结合直接测序方法对三种常见耳聋易感基因(m.1555A>G、GJB2、SLC26A4)突变进行筛查;SPSS11.0统计软件对结果进行统计分析。结果①听力筛查结果 :初筛未通过174例(6.24%,174/2788),复筛64例(36.78%,64/174),复筛未通过15例(23.44%,15/64);确诊感音神经性听力损失5例,其中,1例为GJB2基因c.235delC纯合突变,2例为SLC26A4基因c.919-2A>G杂合携带。②基因筛查结果 :2788例中基因筛查异常者81例,其中6例(0.22%,6/2788)为mtDNA12SrRNAm.1555A>G阳性(给予禁用耳毒性药物等防聋指导),1例(0.04%,1/2788,确诊为重度感音神经性耳聋)为GJB2基因c.235delC纯合突变,40例(1.43%,14/2788)为GJB2基因c.235delC杂合携带,34例(1.22%,34/2788)为SLC26A4基因c.919-2A>G杂合携带。结论新生儿听力和聋病易感基因联合筛查能够发现与遗传相关的迟发性耳聋和听力损伤高危新生儿,耳聋易感基因筛查对新生儿听力筛查可起到必要的补充和进一步完善的作用。

Objective To discuss and analyze the essentiality and feasibility of conducting newborn hearing and genetic screening in Luoyang city. Methods 2 788 newborn babies from November 2007 to August 2008 received the hearing and genetic screening. Otoacoustie emission（OAE） was used for both initial and follow-- Up screening at Luoyang women and children health care center. Those could not pass the second screening would be accomplished the hearing evaluation and medical diagnosis in the designated Hearing Diagnostic Center. All newborns collected the blood within the moment of newborn or in 3 days performed the screening for the mitochondrial DNA12SrRNA m. 1555A〉G and GJB2 as well as SLC26A4 genes mutations. Statistical analysis was operated by SPSS11. 0. Results The consequence of hearing screening.. 174 of 2 788 newborn babies showed ＂refer＂ in the first screening with 6.24%（174/2 788）. After 42 days, 64 of 174 accepted the second screening with 36.78%（64/174）. 15 of 64 were showed ＂refer＂ with 23.44% （15/64）. At last, 5 subjects were confirmed with sensorineural hearing loss. The consequence of gene screening： 81 of 2 788 babies were found abnormal. Of the 81 babies, 6 was proved to be the mtDNA12SrRNA m. 1555A〉G mutation. For the GJB2 gene screening, 40 were 235delC heterozygote carriers, 1 was 235delc homozygote. For the SLC26A4 gene screening, 34 were the heterozygote of c. 919-2A〉G mutation. Of those, 6 babies with m. 1555A〉G mutation were intervened and avoided the occurrence of deafness, 1 babies with 235delC homozygote was confirmed severe sensorineural hearing loss in the hearing screening. Oonclusion Newborn gene screening make up the defects of missed diagnosis in simple hearing screening in finding the newborn babies with late--onset deafness or the high risk as well as the pathogenic carriers. So the hearing and gene screening were necessary in the current situation , and this screening strategy would be developed further in Henan province.