两种产前诊断技术对于检测羊水细胞染色体嵌合的性能比较  

Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes

作　　者：孙惟佳[1,2] 苏家荪 刘天盛 黄红倩[1,2] 欧阳鲁平 王林琳[1,2] 李娇 罗静思 Sun Weijia;Su Jiasun;Liu Tiansheng;Huang Hongqian;Ouyang Luping;Wang Linlin;Li Jiao;Luo Jingsi(Maternity and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China;Birth Defect Prevention and Control Institute of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530021,China)

机构地区：[1]广西壮族自治区妇幼保健院,南宁530021 [2]广西壮族自治区出生缺陷预防控制研究所,南宁530021

出　　处：《中华医学遗传学杂志》2022年第8期842-847,共6页Chinese Journal of Medical Genetics

基　　金：广西壮族自治区卫生健康委员会自筹科研项目 (Z20170792)。

摘　　要：目的探讨染色体核型分析和单核苷酸多态性微阵列(single nucleotide polymorphism microarray,SNP-array)检测对于发现羊水嵌合体的价值。方法回顾分析羊水诊断发现胎儿为染色体嵌合体并进行SNP-array检测的74例孕妇的资料。结果在74例嵌合体中,12例为假性嵌合体,62例为真性嵌合体,后者包括罗伯逊易位嵌合体1例、缺失嵌合体3例、标记染色体嵌合体4例、常染色体非整倍体嵌合体19例、性染色体非整倍体嵌合体30例、等臂染色体嵌合体5例。结论染色体核型分析与SNP-array对于诊断嵌合体各有优缺点。当二者结果不一致时,可进一步采用荧光原位杂交进行验证。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.

关 键 词：产前诊断 嵌合体 染色体核型 单核苷酸多态性微阵列 

分 类 号：R714.5[医药卫生—妇产科学]