[两种产前诊断技术检测羊水细胞染色体嵌合体性能的比较]
[Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes].
作者信息
Sun Weijia, Su Jiasun, Liu Tiansheng, Huang Hongqian, Ouyang Luping, Wang Linlin, Li Jiao, Luo Jingsi
机构信息
Maternity and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530021, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):842-847. doi: 10.3760/cma.j.cn511374-20210427-00367.
OBJECTIVE
To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples.
METHODS
Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed.
RESULTS
Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms.
CONCLUSION
Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
目的
评估染色体核型分析和基于单核苷酸多态性的微阵列（SNP阵列）检测羊水样本中染色体嵌合体的价值。
方法
回顾性分析74例经两种方法均检测出胎儿嵌合体的孕妇。
结果
在这74例嵌合体中，12例为假嵌合体，62例为真嵌合体，其中包括1例罗伯逊易位、3例缺失、4例额外标记染色体、19例常染色体非整倍体嵌合体、30例性染色体非整倍体嵌合体和5例等臂染色体嵌合体。
结论
染色体核型分析和SNP阵列在诊断嵌合体方面各有优缺点。当两种方法结果不一致时，可采用荧光原位杂交进行进一步验证。
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