摘要
出生缺陷由遗传因素、环境因素或两者共同作用所致。产前诊断或植入前诊断是预防遗传病发生、减少或杜绝遗传病患儿出生的主要手段。根据出生缺陷相关遗传病的不同遗传问题,除传统的染色体核型分析技术、荧光原位杂交技术用于染色体非整倍体检测外,以高通量为特点的染色体微阵列分析技术以及第二代测序技术可更好地针对基因组病、单基因遗传病进行检测,从而形成完整的出生缺陷相关遗传病检测技术体系。本文对目前出生缺陷相关遗传病的产前诊断技术新进展进行了综述。
Birth defects have become a major public health concern in the world, which can be resulted from the harmful environmental factors, genetic mutations or their co-effects. Prenatal diagnosis or preimplantation diagnosis has been considered as the only effective way for the prevention of the birth of those defects. Besides karyotype analysis and fluorescence in situ hybridization, chromosomal microarray analysis and next generation sequencing or its derivatives are in common use. This article reviews the advances of the newly emerging molecular techniques in prenatal diagnosis of birth defects associated with genetic disorders.
出处
《浙江大学学报（医学版）》
CAS
CSCD
北大核心
2017年第3期227-232,共6页
Journal of Zhejiang University(Medical Sciences)
基金
国家自然科学基金(81571500)
浙江省自然科学基金(LZ15H040001)
浙江省医药卫生科技计划(2016148763)
关键词
遗传性疾病
先天性
先天畸形
原位杂交
荧光
产前诊断
染色体
微阵列分析
综述
Genetic diseases, inborn Congenital abnormalities In situ hybridization, fluorescence Prenatal diagnosis Chromosomes Microarray analysis Review
