【摘要】 目的通过对石家庄市23 763例新生儿听力筛查及耳聋基因检测数据的分析,探讨听力筛查联合耳聋基因检测在临床中的应用价值。方法新生儿于出生后3d同步进行听力筛查及常见耳聋基因检测。其中听力筛查采用初筛耳声发射(otoacoustic emission,OAE)和复筛OAE+自动听性脑干反应两步法,常见耳聋基因检测采用荧光聚合酶链式反应法(荧光PCR),最后对联合筛查结果进行统计分析。结果 23 763例新生儿中有20 443例通过了听力初筛,初筛通过率为86.03%(20 443/23 763);3 087例参加复筛的新生儿中有2 964例通过了复筛,复筛通过率为96.02%(2 964/3 087)。23 763例新生儿中有960例携带常见耳聋基因突变,随机人群常见耳聋基因突变率为4.04%(960/23 763);123例未通过听力筛查的新生儿中有20例携带常见耳聋基因突变,高危人群携带率为16.26%(20/123),高危人群组常见耳聋基因突变携带率高于随机人群组(P<0.05)。最终在37例进行听力学诊断的新生儿中确诊中度耳聋1例,重度耳聋4例,确诊为听力损失的5例新生儿中有1例为235delC纯合突变型,1例为235delC/299-300delAT复合杂合突变型,2例为IVS7-2A>G纯合突变型,1例为IVS7-2A>G/2168A>G复合杂合突变型。结论将联合筛查应用于临床可以扩大听力障碍的防治范围,有效提高新生儿耳聋的检出率,有助于提早发现新生儿听力障碍并实施早期个性化靶向预防,为患儿提供有针对性的医疗咨询与干预。更多还原

【Abstract】 Objective To explore the value of hearing screening combined deafness genes detection in clinical application by analyzing the data from 23 763 newborns in Shijiazhuang.Methods Newborn babies undergo simultaneous hearing screening and common deafness gene testing at 3 d after birth.The two-step screening method was used in hearing screening.Otoacoustic emission(OAE)was used at the beginning of the screen and OAE+automated auditory brainstem response was used on those who failed the first screening.Common deafness genes were detected by fluorescent PCR.Finally we analyzed the statistical datas of combined screening.Results 20 443 from the 23 763 newborns passed first hearing screening and the passing rate was 86.03%(20 443/23 763).3 087 newborns recept the second hearing screening and 2 964 passed it.The second passing rate was 96.02%(2 964/3 087).960 newborns carried mutations of common deafness genes and the carrier rate was 4.04%(960/23 763)from the random population of 23 763.The carrier rate was 16.26%(20/123)in those 123 infants unpassed the hearing screening who were called high risk population.Signification differences were observed between the two groups of random and high risk(P<0.05).Finally 5cases were diagnosed as hearing loss in the 37 newborns who were recalled for audiological diagnosis.We found a 235 delC homozygous mutation and a 235delC/299-300 delAT compound heterozygous in GJB2 gene and 2 cases of IVS7-2A>G homozygous mutation and a IVS7-2A>G/2168A>G compound heterozygous in SLC26A4 gene among the 5hearing loss.The 235 delC/299-300 delAT compound heterozygous was diagnosed as moderate deafness and the others were profound hearing loss.Conclusion The synchronous detection for clinical application could expand the scope of deafness prevention and improve the detection rate of neonatal deafness effectively.It contributes to the early detection of neonatal hearing disorders and provides early individualized targeted prevention.It can provide targeted medical advice and intervention for children with hearing disorders.更多还原