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中文摘要：
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。
英文摘要：
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 parentalmutation 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. Conelu- slon 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.
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