【作者】 李玲； 麦明琴； 曾玉坤； 饶腾子； 丁红珂； 刘玲；

【机构】 广东省妇幼保健院医学遗传中心；

【摘要】 目的通过超声引导下介入性穿刺术获取胎儿附属物标本进行遗传性耳聋基因产前诊断,降低遗传性耳聋患儿的出生率。方法孕11~13+6周孕妇采用超声引导下绒毛活检术抽取胎盘绒毛;孕18~24+6周孕妇在超声引导下抽取羊水,孕24周以上孕妇在超声引导下抽取脐血。应用短串重复序列连锁分析(STR)进行母血污染鉴别,遗传性耳聋基因芯片检测技术对GJB2、GJB3、SLC26A4和mtDNA12SrRNA四个耳聋基因进行测序。结果 36例产前介入性穿刺术均一次成功。36例标本经STR鉴定均排除母血污染。7例未检测到到明确耳聋基因突变;16例为耳聋基因杂合突变,3例为耳聋基因杂合突变伴多态性位点突变,出生后随访新生儿听力筛查结果均正常;10例为耳聋基因双杂合突变,孕妇选择终止妊娠。结论超声引导下行介入性穿刺术是进行遗传性耳聋基因产前诊断获取胎儿附属物标本的有效途径。联合耳聋基因芯片检测技术及STR检测,可排除母血污染,准确诊断胎儿遗传性耳聋基因型,有效降低遗传性耳聋患儿的出生率。更多还原

【Abstract】 Objective Obtaining fetal appendages specimes to prenatal diagnostic hereditary deafness through interventional biopsy under utrasounic guidance,to reduce the hereditary deafness child rate.Methods Obtaining villus by chorionic villi sampling in pregnant 11~13+6 week,amnintic fluid by amniocentesis in pregnant18~24+6,umbilical cord blood by chorionic villi sampling.Sequencing for four the hereditary deafness-related genesGJB2,GJB3,SLC26A4 and mtDNA12 SrRNA,excluding maternal blood contamination by short tandem repeat(STR).Result 36 cases of specimen,have no definite deafness-related gene mutation in7 cases,was found heterozygous in 16 cases,heterozygous with polymorphism in 3 cases,double heterozygous in 10 cases.Conclusion Interventional procedure under ultrasonic guidance is a safe and effective way of prenatal diagnosis of hereditary deafhess.Combined the technique of deafness-related gene sequencing and STR,not only excluded maternal blood contamination,but also can perenatal diagnosis the patient with hereditaery deafness,and reduce birth rate of fetal with hereditary deafness.更多还原