CAJ | 학술논문

目的：通过耳聋产前诊断对先证者为人工耳蜗植入者的遗传性耳聋家庭的生育指导，探讨遗传性耳聋家庭康复与预防的理想模式。方法58个耳聋家庭参与了此研究，这些耳聋家庭均育有一子，为先天性耳聋患者并植入了人工耳蜗，父母均为听力正常者，计划生育听力健康后代。先证者接受详细的体格检查、听力学及影像学检查后，先证者及其父母均采集外周血并提取DNA，进行GJB2序列分析、SLC26A4常见突变外显子分析和线粒体基因（mtDNA）12SrRNA检测，明确了分子病因和后代再发风险。接受产前诊断时，母亲妊娠11~26周，根据母亲的妊娠时间，行适当的产前诊断取材并提取胎儿DNA，测定胎儿基因型，预测胎儿听力状态。结果35个耳聋家庭的先证者为GJB2纯合或复合突变，父母均为GJB2突变携带者；23个耳聋家庭的先证者为SLC26A4纯合或复合突变，父母均为SLC26A4突变携带者。此58个耳聋家庭再发风险均为25%，共行产前诊断64例次（6个家庭母亲怀孕2次，进行了2次产前诊断），44例次检测结果显示胎儿仅携带一个父系或母系突变，或未携带任何已知突变，随访胎儿出生后听力均正常；20例次检测结果显示胎儿与先证者基因型相同，父母自愿选择终止妊娠。结论对于分子病因明确的遗传性耳聋家庭，先证者接受人工耳蜗植入获得最佳听力语言康复效果，再生育时通过耳聋基因诊断结合产前诊断预防聋儿出生，是最理想的耳聋康复与预防模式。
목적：통과이롱산전진단대선증자위인공이와식입자적유전성이롱가정적생육지도，탐토유전성이롱가정강복여예방적이상모식。방법58개이롱가정삼여료차연구，저사이롱가정균육유일자，위선천성이롱환자병식입료인공이와，부모균위은력정상자，계화생육은력건강후대。선증자접수상세적체격검사、은역학급영상학검사후，선증자급기부모균채집외주혈병제취DNA，진행GJB2서렬분석、SLC26A4상견돌변외현자분석화선립체기인（mtDNA）12SrRNA검측，명학료분자병인화후대재발풍험。접수산전진단시，모친임신11~26주，근거모친적임신시간，행괄당적산전진단취재병제취태인DNA，측정태인기인형，예측태인은력상태。결과35개이롱가정적선증자위GJB2순합혹복합돌변，부모균위GJB2돌변휴대자；23개이롱가정적선증자위SLC26A4순합혹복합돌변，부모균위SLC26A4돌변휴대자。차58개이롱가정재발풍험균위25%，공행산전진단64례차（6개가정모친부잉2차，진행료2차산전진단），44례차검측결과현시태인부휴대일개부계혹모계돌변，혹미휴대임하이지돌변，수방태인출생후은력균정상；20례차검측결과현시태인여선증자기인형상동，부모자원선택종지임신。결론대우분자병인명학적유전성이롱가정，선증자접수인공이와식입획득최가은력어언강복효과，재생육시통과이롱기인진단결합산전진단예방롱인출생，시최이상적이롱강복여예방모식。
Objective To discuss the ideal model of rehabilitation and prevention for hereditary deaf family. Methods 58 families joined in the study during the years from 2006 to 2013. Of these families, all parents with normal hearing had one deaf child with cochlear implantation and were eager to have a healthy baby. Genomic and mitochondrial DNA of each pro-band and their parents were extracted from whole blood. The etiology and recurrent risk in 53 families were confirmed by means of the genetic testing of GJB2, SLC26A4 and mtDNA 12sRNA after medical history, physical examination, auditory test-ing and CT scan of temporal bone were completed. The prenatal testing was carried out during the pregnancy of all mothers from 11 to 26 weeks, and the following genetic information and counseling were supplied based on the result. Results The re-current risk was 25%in these 58 families, including 35 families were of parents with heterozygous GJB2 mutation and pro-bands with homozygous or compound GJB2 mutations and 23 families were of parents with heterozygous SLC26A4 mutation and probands with homozygous or compound SLC26A4 mutations. 64 times of prenatal testing were applied in all 58 families that 6 families of them received prenatal testing twice because of pregnancy twice. 20 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands;while 44 times of prenatal testing showed that the fetuses carried only one parental mutation or did not carry any mutation from parents, and the following visit showed that these families had given birth to babies who were all revealed to have normal hearing by new born hearing screening. Conclu-sion As for the deaf families that the etiology is confirmed, the ideal model of rehabilitation and prevention is that the proband takes cochlear implantation and parents use prenatal diagnosis assisted by genetic testing to have a healthy baby.