染色体微阵列分析技术在超声异常胎儿产前诊断中的应用
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2017)
Abstract
目的 探讨染色体微阵列分析技术(chromosomal microarry analysis,CMA)在超声异常胎儿产前诊断中的应用价值.方法 对477例已排除常见染色体非整倍体的超声异常胎儿羊水样本进行CMA检测,并用ChAS v3.0软件对结果进行分析.结果 在477例超声异常胎儿羊水样本中,CMA共检出致病性拷贝数变异(pathogenic copy number variation,pCNV)24例,检出率为5.03%.其中62例多系统结构异常胎儿中检出pCNVs 6例,检出率为9.68%;147例单系统结构异常胎儿中检出pCNVs 11例,检出率为7.48%;268例超声软指标异常胎儿中检出pCNVs 7例,检出率为2.61%.结论 与传统染色体核型分析相比,CMA可以明显提高超声异常胎儿染色体异常的检出率.尤其对于超声结构异常胎儿,CMA可作为有效的产前诊断方法.
MoreTranslated text
Key words
Chromosomal microarray analysis,Prenatal diagnosis,Ultrasound abnormality
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined