摘要
G显带核型分析是染色体产前诊断的金标准,然而其常受到细胞培养成功率、细胞分裂指数及标本质量的影响,且不利于快速诊断,也不能检出染色体片段小于5 Mb的微小缺失及微重复。染色体微阵列分析(chromosomal microarray analysis,CMA)能够检出100kb以上染色体微小缺失及微重复,能在一定程度上弥补G显带核型分析的不足。合理地将CMA结合核型分析应用于超声异常胎儿产前诊断,可以提高染色体异常检出率,减少出生缺陷。本文就G显带核型联合CMA在超声异常胎儿产前诊断中的应用进展作一综述。
G-banding karyotype analysis is the gold standard for prenatal diagnosis of chromosomes.However,it is often affected by the success rate of cell culture,cell division index and sample quality,which is not conducive to rapid diagnosis,and can not detect the microdeletions and microduplications of chromosome segments less than 5 MB.Chromosomal microarray analysis(CMA)can detect more than 100kb chromosomal microdeletions and microduplications,which can make up for the deficiency of G-banding karyotype analysis to a certain extent.Reasonable application of CMA combined with karyotype analysis in prenatal diagnosis of abnormal fetuses can improve the detection rate of chromosomal abnormalities and reduce birth defects.This article reviews the application of G-banding karyotype combined with CMA in prenatal diagnosis of abnormal fetus.
作者
邓国生
DENG Guo-sheng(Yulin Maternal and Child Health Hospital,Yulin 537000,China)
出处
《中国优生与遗传杂志》
2020年第7期783-785,共3页
Chinese Journal of Birth Health & Heredity
基金
玉林市科技攻关项目(合同编号:玉市科20201618)
关键词
核型分析
染色体微阵列分析
超声异常
产前诊断
Karyotype analysis
Chromosomeal microarray analysis
Ultrasound abnormalities
Prenatal diagnosis
