中国听力语言康复科学杂志Issue(4)：273-275,3.DOI:10.3969/j.issn.1672-4933.2015.04.009
遗传性耳聋产前诊断的研究进展
Research Progresses in Prenatal Diagnosis of Hereditary Deafness
摘要
Abstract
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.关键词
遗传性耳聋/新一代测序/产前诊断/胚胎植入前遗传学诊断Key words
Hereditary hearing loss/Next generation sequencing(NGS)/Prenatal diagnosis/Preimplantation genetic diagnosis(PGD)引用本文复制引用
张秀菊,田永胜,杨华..遗传性耳聋产前诊断的研究进展[J].中国听力语言康复科学杂志,2015,(4):273-275,3.基金项目
十二五国家科技支撑计划资助项目课题（2012BAI12B00/2012BAI12B01)；国家自然科学基金（81470698）；北京协和医院中青年科研基金(pumch-2013-007) （pumch-2013-007）
