新生儿听力和聋病相关基因联合筛查的临床意义

Clinical Significance of Combined Hearing and Deafness Predisposing Gene Screening in Newborns

目的分析1027例新生儿听力筛查和聋病相关基因筛查的结果,探讨新生儿听力和聋病相关基因联合筛查的意义。方法所有新生儿进行听力筛查,初筛和复筛采用耳声发射法(OAE),复筛未通过者3个月行脑干诱发电位(ABR)检测诊断。所有新生儿利用基质辅助激光解吸电离飞行时间质谱检测与耳聋相关的4个基因GJB2、GJB3、SLC26A4及线粒体12SrRNA中的20个突变位点。结果 1027例新生儿中未通过听力初筛者124例,未通过听力检测者12例。检出基因位点突变者52例(5.06%,52/1027)。检出GJB2基因位点突变者31例(3.02%,31/1027),检出SLC26A4基因位点突变者21例(2.04%,21/1027)。结论新生儿听力和基因联合筛查提供了遗传病因信息,对早期诊断部分耳聋患儿非常重要,且对患儿和携带者将来婚前和产前的遗传咨询和指导干预具有关键性的指导作用。

Objective To analyze the results of hearing and gene screening in 1027 newborns and investigate the signifi- cance of combined hearing and gene screening. Methods Otoacoustic emissions （OAE） were used for both the first and sec- ond step hearing screening. Newborns failing OAE tests underwent auditory brainstem response （ABR） testing at 3 months af- ter birth. Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry （MALDI-TOF-MS） was used to de- tect 20 mutations in 4 deafness predisposing genes （GJB2, GJB3, SLC26A4 and mtDNA 12SrRNA）. Results One hundred and Twenty four newborns failed the first step hearing screening and 12 failed the hearing screening. Fifty two newborns car- ried mutations with a positive detection rate of 5.06 % （52/1027）. There were 31 GJB2 gene mutations carriers with a positive detection rate of 3.02 % （31/1027） and 21 SLC26A4 gene mutations carriers with a positive detection rate of 2.04 % （21/ 1027）. Conclusions Combined newborn hearing and gene screening provids genetic etiology information and is significant for early diagnosis of some newborn deafness. Gene screening results can also guide premarital and prenatal genetic counseling and intervention for patients and carriers in the future.