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11~14周孕妇采用超声引导下绒毛活检术抽取胎盘绒毛；孕16周后孕妇在超声引导下抽取羊水，孕25 周以上因有其他项目需同时产前诊断的，则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，已出生的，生后随访新生儿听力筛查结果均正常；10例为耳聋基因双重杂合突变，经遗传咨询后，孕妇及家人选择终止妊娠。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。
Objective Prenatal diagnosis tests were performed under the guidance of ultrasound by chorionic villus sampling, amniocentesis and cordocentesis, all the fetal samplings were sent to detect the hereditary deafness genes in order to reduce the deafness birth defects. Method Chorionic villus sampling in gestation of 11~14 weeks, amniotic fluid by amniocentesis after 16 weeks in gestation, umbilical cord blood sampling after 25 weeks together with other prenatal diagnosis index . Sequencing the four hereditary deafness-related genes GJB2,GJB3, SLC26A4 and mtDNA12SrRNA, all the samples were excluded the maternal blood contamination by short tandem repeat test (STR). Results In 36 cases, no definite deafness-related gene mutation in 7 cases, 16 cases were found heterozygous, heterozygous with polymorphism were found in 3 cases, and double heterozygous in 10 cases. Conclusions Prenatal diagnosis procedure under ultrasonic guidance is a safe and effective way in hereditary deafness detection. Combining with the technique of deafness-related gene sequencing and STR, fetus with double heterozygous were diagnosed, then genetic consulting were offered to the parents to considering the baby’s outcome. In that way, the birth rate of hereditary deafness can be reduced.
