54例自然流产和胚胎停育的绒毛微阵列芯片结果分析  

Detection of chromosome microarray analysis on chorionic villus samples from 54 fetuses with spontaneous abortion and embryonic demise

作　　者：向萍霞 肖涤 胡晞江[1] XIANG Ping-xia;XIAO Di;HU Xi-jiang(Prenatal Diagnostic Center,Wuhan Children＇s Hospital,Wuhan Maternal and Child Healthcare Hospital）,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430016)

机构地区：[1]华中科技大学同济医学院附属武汉儿童医院(武汉市妇幼保健院),武汉430016

出　　处：《中国优生与遗传杂志》2018年第9期1-3,共3页Chinese Journal of Birth Health & Heredity

基　　金：武汉市临床医学科研项目(WX14C50);武汉中青年医学骨干人才培养项目(武卫生计生[2016]59号)

摘　　要：目的应用微阵列比较基因组杂交技术(array-based comparative genomic hybridization,array-CGH)检测54例自然流产和胚胎停育的绒毛的全基因组拷贝数变异(copy number variations,CNVs),探讨该技术的临床应用价值。方法采用Affymetrix Cytoscan optima芯片对54例自然流产和胚胎停育的绒毛组织进行基因组CNVs检测,用相应软件对检测结果进行分析,分析其是否具有致病性。结果全部54例标本均成功获得芯片检测结果,成功率100%。共检测出异常30例(55.6%),其中非整倍体27例(50.9%),单纯性CNVs 2例,非整倍体合并CNVs 1例,单亲二倍体1例。结论自然流产和胚胎停育的绒毛染色体微阵列比较基因组杂交检测成功率高,为临床咨询流产和胚胎停育原因提供了一种更有效地遗传学检测方法,array-CGH芯片检测是目前临床检测流产绒毛是否存在基因异常最有效的方法。Objective：To evaluate the value of array-comparative genomic hybridization（array-CGH）for analyzing choronic villus samples derived from spontaneous abortion and embryonic demise. Methods：Affymetrix Cytoscan optima were used to detect genome-wide copy number variations（CNV）in 54 fetuses with spontaneous abortion and embryonic demise. All identified CNV were analyzed with Affimetrix Chromosome Analysis Suite Software and references from databases. Results：All of the fifty samples were successfully analyzed. Thirty samples（55.6%）with abnormal chromosomes were identified,of which 27 samples（50.9%）were aneuploidy,3 samples were segmental deletion and/or duplication cases,and 1 sample was uniparental disomy（UPD）. Conclusion：Array-CGH analysis circumvents many limitations in traditional karyotyping. The accuracy and efficiency of a CGH in spontaneous abortion and embryonic demise highlights its clinical usefulness for the future. Array-CGH is becoming the most efficient method of testing nowadays.

关 键 词：自然流产 胚胎停育 绒毛 染色体微阵列 

分 类 号：R714.21[医药卫生—妇产科学]