摘要目的:应用染色体微阵列技术(chromosome microarray analysis，CMA)分析胚胎停育与染色体异常之间的关系，探讨引发胚胎停育的遗传因素。方法:选取2018年1月至2023年12月因胚胎停育于临沂市妇幼保健院就诊并对停育组织行CMA检测的431例患者作为研究对象，根据相关数据库对CMA结果进行分析。按孕妇年龄分为高龄组(≥35岁)和低龄组(<35岁)，比较两组染色体异常比率的差异，并对检测结果进行统计及综合分析。结果:431例流产绒毛成功检测430例，其中检出染色体异常289例(67.21%)，分别为：染色体三体型144例、单体型45例、三倍体35例、复合三体19例、嵌合体11例、近三倍体6例、四体1例及染色体拷贝数变异(copy number variation，CNV)28例，染色体三体型主要以16-三体和22-三体居多，单体型只有X单体和21-单体发生。28例染色体结构异常样本中，16例样本同时发生两个或两个以上CNV，共发生45个CNV，其中35个为致病性变异，4个可能致病性变异，6个临床意义不明CNV。低龄组和高龄组染色体异常发生率分别为62.11%和75.17%，差异具有统计学意义( P＝0.009 2)。 结论:染色体异常是引起胚胎停育的遗传学因素，数目异常是主要的遗传学病因，CNV也是导致胚胎停育的重要病因。年龄与胚胎停育染色体异常显著相关。

abstractsObjective:Using chromosome microarray analysis (CMA) to analyze the relationship between embryo damage and chromosomal abnormalities, and to explore the genetic factors leading to embryo damage.Method:431 patients who visited Maternal and Children’s Health Hospital of Linyi due to embryo damage from January 2018 to December 2023 and underwent CMA on the suspended tissues were selected as the research subjects. The CMA results were analyzed based on relevant databases. Dividing pregnant women into an older group (≥ 35 years old) and a younger group (<35 years old) based on their age, comparing the differences in chromosome abnormality rates between the two groups, and perform statistical and comprehensive analysis on the test results.Result:430 out of 431 miscarriage villous samples were successfully detected, including 289 cases of chromosomal abnormalities (67.21%), including 144 cases of chromosome trisomy, 45 cases of haplotype, 35 cases of triploid, 19 cases of complex trisomy, 11 cases of chimerism, 6 cases of near triploid, 1 case of tetrasomy, and 28 cases of copy number variation (CNV). Chromosomal trisomy is mainly composed of trisomy 16 and trisomy 22, while chromosomal haplotypes only occur with X and 21 monomers.Among the 28 samples with chromosomal structural abnormalities, 16 samples have two or more CNVs simultaneously, resulting in a total of 45 CNVs. Among them, 35 were pathogenic variants, 4 were potentially pathogenic variants, and 6 were clinically unknown CNVs. The incidence of chromosomal abnormalities in the younger and older age groups was 62.11% and 75.17%, respectively, and there was a significant difference between the two groups, which was statistically significant ( P=0.009 2). Conclusions:Chromosomal abnormalities are genetic factors that cause of embryo damage, chromosome number abnormalities are the main genetic cause, and CNV is also an important cause of embryo damage. Age is significantly correlated with chromosomal abnormalities in embryo damage.