75例早期自然流产组织物的单核苷酸多态性微阵列芯片结果分析

Analysis of singlenucleotide polymorphism array detection of 75 cases of early spontaneous abortion

目的探讨胚胎染色体异常与早期自然流产的关系,以及单核苷酸多态性微阵列(SNP array)技术在早期自然流产组织物遗传学分析中的应用价值。方法收集2019年8月—2020年11月于广东省计划生育专科医院就诊的75例早期自然流产患者的绒毛或胎儿组织,在排除母体细胞污染后,采用Infinium Asian Screening Array v1.0基因芯片进行全基因组拷贝数变异(CNV)检测,并对检测出的CNV的致病性进行分析。结果 75例流产组织物标本全部检测成功。共发现异常核型47例(62.7%),包括染色体数目异常41例,染色体结构异常4例,纯合状态(AOH)2例。年龄≥35岁患者组的流产组织物染色体异常率为79.2%,显著高于年龄<35岁患者组(异常率55%),差异有统计学意义。结论胎儿染色体异常是自然流产发生的重要原因,SNParray技术为自然流产组织物遗传学分析检测的一种准确率高、特异性强的分子诊断方法,对于分析自然流产的病因及指导再次生育有重要意义。

Objective Todetect the relationship between chromosomal abnormalities and early spontaneous abortion bysingle nucleotide polymorphism array(SNP array),andexploreits application value in the genetic diagnosis of earlyspontaneous abortion.Methods 75 embryonic tissue samples from patients withearly spontaneous abortion from August 2019 to November 2020 in Guangdong Family Planning Hospital.After excluding maternal cell contamination,the genome-wide copy number variations(CNVs) were detected by Infinium Asian screening array v1.0 gene chip.And the pathogenicity of CNVs were analyzed.Results 75 samples were all detected successfully.A total of 47 cases(62.7%) of abnormal karyotypes were found,including 41 cases of abnormal chromosome number,4 cases of structural abnormalities and 2 cases of absence of heterozygosity(AOH).The abnormal rate of chromosome in abortion tissues of patients over 35 years old was 79.2%,which was significantly higher than that of patients under 35 years old(55%).Conclusion Chromosome abnormality is the main cause of spontaneous abortion in early pregnancy.SNP array technology is a molecular diagnostic method with high accuracy and strong specificityfor analyzing the causes of spontaneous abortion and providing more genetic information for reproduction.