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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CNVs 15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。
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更新时间：2019-07-08
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CMA在胎儿神经系统异常产前诊断中的应用分析▲
Application of chromosome microarray analysis to prenatal diagnosis of fetal nervous system abnormalities
微创医学 20191403期 页码：287-289
作者机构：广西壮族自治区妇幼保健院，南宁市530002
基金信息：▲基金项目：广西区卫计委自筹经费科研课题（编号：Z20180088）
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ObjectiveTo explore the application of chromosome microarray analysis (CMA) to prenatal diagnosis of fetal nervous system abnormalities. MethodsA total of 121 pregnant women with fetal nervous system abnormalities diagnosed by ultrasonography were enrolled, concurrently, chromosome karyotype analysis and CMA detection were performed in the subjects. ResultsEleven fetuses were found with chromosome karyotype anomaly, with a detection rate of 9.09%(11/121). Twenty-six fetuses were found with copy number variations (CNVs), with a detection rate of 21.49%(26/121), including 15 cases of pathogenic CNVs, with a detection rate of 12.40%(15/121), and 11 cases of variants of unknown significance(VOUS), with a detection rate of 9.09%(11/121). ConclusionIn prenatal diagnosis of fetal nervous system abnormalities, although CMA detection may increase the difficulty in genetic counseling for its presenting of unknown clinical significance cases, it can improve the detection rate of abnormal cases.
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