解放军医学院学报2018，Vol.39Issue(12)：1110-1113,4.DOI:10.3969/j.issn.2095-5227.2018.12.020
染色体微阵列分析技术在产前诊断中的应用综述
Application of chromosome microarray analysis technology in prenatal diagnosis
摘要
Abstract
Chromosomal microarray analysis (CMA) is an emerging chromosomal analysis technique that can clarify the source and nature of abnormal fragments of karyotype analysis, effectively diagnose chromosome microdeletions and microduplications that cannot be found in karyotype analysis, and significantly improve the diagnostic yield of fetal chromosomal abnormalities.CMA provides better resolution, higher automation, and faster turnaround time than karyotype analysis.At the same time, the detection of the variant of uncertain significance (VOUS) poses a challenge to the genetic counseling.This article reviews the application of CMA in prenatal diagnosis.关键词
染色体微阵列分析/产前诊断/染色体核型分析Key words
chromosomal microarray analysis/prenatal diagnosis/karyotype analysis分类
医药卫生引用本文复制引用
张文玲,刘晓婷,张立文,王成彬..染色体微阵列分析技术在产前诊断中的应用综述[J].解放军医学院学报,2018,39(12):1110-1113,4.基金项目
国家自然科学基金项目(81871731) （81871731）
