育龄妇女常见耳聋基因筛查及出生缺陷预防回顾性分析 [中文引用][英文引用]

目的 分析广州地区正常听力育龄妇女耳聋相关基因的产前筛查与产前诊断探索遗传性耳聋一级预防的方法。方法　应用遗传性耳聋基因芯片法对13 452名正常听力育龄妇女进行检测，对携带者配偶进行相关基因的检测，相同致病基因携带者知情同意选择产前诊断及进行分娩结局随访。结果 在广州地区正常听力育龄妇女人群中耳聋相关基因携带率为3.35%（451/13 452），各基因在人群携带率分别为GJB2基因1.87%、SLC26A4基因1.12%、线粒体12SrRNA 0.20%、GJB3基因0.16%。在妻子为携带者的情况下，232例配偶进行相关基因检测，其中c.109G>A的携带率达12.5%。在33对同基因携带者夫妇中， 18例孕妇选择进一步产前诊断，1例孕妇选择终止妊娠。随访夫妇均为携带者的新生儿听力情况，受检者均自诉新生儿听力筛查正常，其中包含2例产前诊断基因型为GJB2基因c.235delC复合c.109G>A的患者。结论 耳聋筛查在正常听力育龄妇女中可有效检出大量潜在的耳聋携带者，并对其用药安全及新生儿听力监测有一定的指导意义。

Objective To explore the method of primary prevention for hereditary deafness，the prenatal screening and prenatal diagnosis of deafness-related genes were analyzed in normal hearing women of childbearing age in Guangzhou. Method A total of 13 452 women of childbearing age with normal hearing were tested with chip technology. The carriers' spouses were analyzed for related gene test. For those couples at risk，they could choose prenatal diagnosis with informed consent and their further delivery outcomes were tracked. Results The carrier rate was 3.35% (451/13452) among the normal hearing participants. The mutation rate of GJB2,SLC26A4, 12SrRNA and GJB3 were 1.88% ,1.12%, 0.20% and 0.16% . Among the 232 spouses’ test, the carrier rate of c.109G>A was 12.5%. Of the 33 carrier couples, 18 chose for further prenatal diagnosis, and 1 pregnant woman chosed abortion. Follow-up showed that those infants whose parents are both carrier had all passed newborn hearing screening, including 2 infants with genotype of c.235delC ,c.109G>A. Conclusions Deafness screening can effectively detect a large number of potential carriers among women of childbearing age, and it has a certain significance for drug safety and newborns’ hearing monitoring.