遗传性耳聋家系的产前诊断及遗传咨询 [中文引用][英文引用]

目的 对有明确耳聋致病基因的常染色体隐性耳聋家庭再次生育时行产前诊断，并给予相应的临床咨询，降低生育风险。方法 在知情同意的原则下，通过超声引导下行介入性穿刺，对获取的胎儿标本DNA应用STR位点检测以排除母体基因组的污染，并采用Taqman探针法结合Sanger测序进行相关耳聋基因检测。结果 对59个家系胎儿进行相关基因（GJB2、SLC26A4）检测，16个家系的胎儿为与先证者一致的患儿，25个家系的胎儿为携带父母一方致病突变的携带者，18个家系的胎儿为无致病突变携带的正常胎儿。出生后听力评估、基因诊断结果与产前诊断结果相符。结论 本群体中GJB2基因最常见的致病突变为c.235delC，其次为c.299-300delAT。SLC26A4基因最常见致病突变为IVS7-2A>G，其次为c.2168A>G(p.H723R)。应用一代测序技术进行耳聋基因产前诊断，能准确诊断胎儿耳聋基因型，有效降低遗传性耳聋患儿的出生率。

Objective Prenatal diagnosis were performed in fifty-nine families with autosomal recessive inheritance hearing loss, give them clinical consultation, reduce the risk of deafness birth. Method Obtain the fetus specimens through interventional biopsy guided by ultrasound, test fetus’ realtive deafness gene with Sanger sequencing in combination with short tandem repeat(STR) test to eliminate maternal blood pollution. Results In 59 family cases, sixteen cases were consistent with the results of proband, twenty-five cases were found heterozygous mutations, eighteen cases were found no mutuation.The hearing evaluation results were consistent with the results of prenatal diagnosis. Conclusions The most common pathogenic mutation of GJB2 is c.235delC, the second is c.299-300delAT, the most common pathogenic mutation of SLC26A4 is c.IVS7-2A>G ,the second is c.2168A>G(p.H723R).Application of deafness genes test with Sanger sequencing in prenatal diagnosis can accurately diagnose fetus’ genotype, effectively reduce the birth rate of deafness child .