遗传性耳聋家庭康复与预防模式的探讨

发布时间：2019-08-06 07:03

【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。
[Abstract]:Objective to explore the ideal model of rehabilitation and prevention of hereditary deafness through antenatal diagnosis of deafness. Methods 58 deafness families participated in this study. All of these deaf families had one child, who were born with congenital deafness and were implanted with cochlear implantation. both parents were normal hearing patients and healthy offspring of family planning hearing. After detailed physical examination, audiology and imaging examination, the proband and his parents collected peripheral blood and extracted DNA, for GJB2 sequence analysis, SLC26A4 common mutation exons analysis and mtDNA gene (mtDNA) 12SrRNA detection, which confirmed the molecular etiology and recurrence risk of offspring. When receiving antenatal diagnosis, the mother was 11 weeks pregnant for 26 weeks. According to the mother's pregnancy time, the appropriate antenatal diagnosis materials were taken and fetal DNA, was extracted to determine the fetal genotype to predict the fetal hearing status. Results the probands of 35 deaf families were GJB2 homozygous or compound mutation, and all the parents were GJB2 mutation carriers, and the probands of 23 deaf families were SLC26A4 homozygous or compound mutation, and all the parents were SLC26A4 mutation carriers. The risk of recurrence in these 58 deafness families was 25%. 64 cases were diagnosed before delivery (2 pregnancies in 6 families and 2 antenatal diagnoses). The results of 44 tests showed that the fetus carried only one patrilineal or maternal mutation or did not carry any known mutation, and the hearing of the fetus was normal after birth. The results of 20 tests showed that the fetus was of the same genotype as the proband, and the parents voluntarily chose to terminate the pregnancy. Conclusion for families with hereditary deafness with definite molecular etiology, probands receive cochlear implantation to obtain the best effect of hearing and language rehabilitation, and prevention of deaf children's birth through deafness gene diagnosis combined with antenatal diagnosis is the most ideal mode of deafness rehabilitation and prevention.
【作者单位】：解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所;解放军总医院海南分院耳鼻咽喉头颈外科;解放军总医院妇产科;北京协和医院妇产科;解放军总医院超声诊断科;
【基金】：国家科技支撑计划课题(2012BAI09B02) 国家自然科学基金重点基金(81230020);国家自然科学基金面上项目(30872862;31071099;81070792);国家自然科学基金青年基金(81000415;81000414;81200751) 北京市科技新星计划资助项目(2009B34;2010B081)
【分类号】：R764.43

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