CAJ | 학술논문

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 4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S T R鉴定均排除母血污染。7例未检测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。
목적：통과초성인도하개입성천자술획취태인부속물표본진행유전성이롱기인산전진단，강저유전성이롱환인적출생솔。방법잉11～14주잉부채용초성인도하융모활검술추취태반융모；잉16주후잉부재초성인도하추취양수；잉25주이상인유기타항목수동시산전진단적，칙재초성인도하추취제혈。응용단천중복서렬련쇄분석（STR）진행모혈오염감별，유전성이롱기인심편검측기술대GJB2、GJB3、SLC26A4화mtDNA12SrRNA 4개이롱기인진행측서。결과36례산전개입성천자술균일차성공。36례표본경S T R감정균배제모혈오염。7례미검측도명학이롱기인돌변；16례위이롱기인잡합돌변，3례위이롱기인잡합돌변반다태성위점돌변，이출생적，생후수방신생인은력사사결과균정상；10례위이롱기인쌍중잡합돌변，경유전자순후，잉부급가인선택종지임신。결론초성인도하행개입성천자술시진행유전성이롱기인산전진단획취태인부속물표본적유효도경。연합이롱기인심편검측기술급STR검측，가배제모혈오염，준학진단태인유전성이롱기인형，유효강저유전성이롱환인적출생솔。
Objective Prenatal diagnosis tests were performed under the guidance of ultrasound by chori‐onic villus sampling ,amniocentesis and cordocentesis ,all the fetal samplings were sent to detect the hered‐itary 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 deaf‐ness‐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 un‐der 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 .