遗传性耳聋产前诊断的研究进展

Research Progresses in Prenatal Diagnosis of Hereditary Deafness

随着分子生物学的发展，耳聋分子遗传学取得了重大突破，借助分子遗传学技术在聋人群体及遗传性耳聋家庭中开展产前诊断可减少聋儿的出生。新一代测序技术（nextgeneration sequencing，NGS）可以通过检测孕妇外周血中胎儿游离DNA鉴定胎儿基因型，避免了传统有创产前诊断在取材时所带来的创伤。胚胎植入前遗传学诊断（preimplantation genetic diagnosis，PGD）技术的应用可以减少常规产前诊断可能面临的选择性流产带来的巨大身心伤害。本文总结并分析了遗传性耳聋产前诊断的研究现状和进展。

With the development of molecular biology, molecular genetics of deafness has seen great advances in recent years. By means of these techniques, prenatal diagnosis can be performed in families with hereditary deafness and reduce the birth rate of children with hearing loss. The next generation sequencing （NGS） can identify the genotype of fetuses by testing the free fetus DNA in the maternal peripheral blood and avoid the potential procedure-related fetal loss caused by traditional invasive prenatal diagnosis. The application of preimplantation genetic diagnosis will reduce the therapeutic abortion which may induce physical and mental injuries. This review briefly introduces and discusses the current status of research on prenatal diagnosis of hereditary hearing loss.