摘要
目的 探讨染色体微阵列分析(CMA)在胎儿神经系统异常产前诊断中的应用。方法 选取超声提示胎儿神经系统异常孕妇共121例,同时行染色体核型分析及CMA检测。结果 检出11例胎儿染色体核型异常,检出率为9.09%(11/121)。检出26例胎儿基因组拷贝数变异(CNVs),检出率为21.49%(26/121),其中致病性CNVs15例,检出率为12.40%(15/121);临床意义不明的染色体拷贝数变异(VOUS)11例,检出率为9.09%(11/121)。结论 在胎儿神经系统异常产前诊断中,尽管CMA检测存在临床意义不明病例,增加了遗传咨询的难度,但其能提高异常病例的检出率。
Objective To explore the application of chromosome microarray analysis (CMA) to prenatal diagnosis of fetal nervous system abnormalities. Methods A total of1 21 pregnant women with fetal nervous system abnormalities diagnosed by ultrasonography were enrolled, concurrently, chromosome karyotype analysis and CMA detection were performed in the subjects. Results Eleven fetuses were found with chromosome karyotype anomaly, with a detection rate of 9.09%(11/121). Twenty-six fetuses were found with copy numbeRvariations (CNVs), with a detection rate of 21.49%(26/121), including1 5 cases of pathogenic CNVs, with a detection rate of1 2.40%(15/121), and1 1 cases of variants of unknown significance(VOUS), with a detection rate of 9.09%(11/121). Conclusion In prenatal diagnosis of fetal nervous system abnormalities, although CMA detection may increase the difficulty in genetic counseling foRits presenting of unknown clinical significance cases, it can improve the detection rate of abnormal cases.
作者
宁舒婷
曹少华
何劭君
何明聪
王力川
李敏清
NING Shuting;CAO Shaohua;HE Shaojun;HE Mingcong;WANG Lichuan;LI Minqing(The Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530002,China)
出处
《微创医学》
2019年第3期287-289,共3页
Journal of Minimally Invasive Medicine
基金
广西区卫计委自筹经费科研课题(编号:Z20180088)
关键词
染色体微阵列分析
胎儿神经系统畸形
产前诊断
不明拷贝数变异
Chromosome microarray analysis
Fetal nervous system malformation
Prenatal diagnosis
Variants of unknown significance
