早期流产和复发流产120例的绒毛微阵列芯片结果分析

Chromosome microarray analysis of chorionic villus samples from 120 fetuses with spontaneous abortion and recurrent miscarriage

目的应用微阵列比较基因组杂交技术(array-CGH)检测120例早期自然流产和复发流产的绒毛组织的全基因组拷贝数变异(CNVs),探讨早期流产和复发流产的遗传背景差异。方法采用Affymetrix Cytoscan optima芯片对120例早期流产和复发流产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。结果全部120例标本均成功获得芯片检测结果,成功率100%。共检测出异常67例(55.8%),其中非整倍体62例(51.7%),单纯性CNVs 4例,非整倍体合并CNVs 2例,单亲二倍体1例。早期流产和复发流产的染色体及CNVs异常分布的比例及类型差异无统计学意义(P> 0.05)。结论早期流产和复发流产的绒毛染色体微阵列比较基因组杂交检测成功率高,为临床咨询流产原因提供了一种更有效地遗传学检测方法,早期流产和复发流产的分子遗传背景无明显差异。

Objective To determine the frequency and distribution of array-comparative genomic hybrid-ization(array-CGH)results with 120 choronic villus samples derived from spontaneous abortion and recurrent mis-carriage.Methods Affymetrix Cytoscan optima were used to detect genome-wide copy number variations(CNVs)in 120 fetusers with spontaneous abortion and recurrent miscarriage.All identified CNVs were analyzed with Affime-trix Chromosome Analysis Suite Software and references from databases.Results All of the 120 samples were suc-cessfully analyzed.67 samples(55.8%)with abnormal chromosomes were identified,of which 62 samples(51.7%)were aneuploidy,6 were segmental deletion and/or duplication cases,and 1 was uniparental disomy(UPD).Conclusion Array-CGH analysis circumvents many limitations in traditional karyotyping.The accuracy and efficiency of aCGH in spontaneous abortion and recurrent miscarriage highlights its clinical values for the fu-ture.There is no significant difference found in the rate of array-CGH analysis abnormality in both SA and RM groups.