染色体微阵列分析与染色体核型分析在胚胎停育染色体异常中的诊断价值比较及一致性分析

Comparison and consistency analysis of the diagnostic value of chromosomal microarray analysis and chromosome karyotype analysis in chromosomal abnormalities of embryo arrest

摘要

目的 探究染色体微阵列分析技术(CMA)与染色体核型分析在胚胎停育染色体异常中的诊断价值并进行一致性分析。方法 选择2021年1月至2024年1月秦皇岛市妇幼保健院确诊的324例胚胎停止发育并接受清宫术处理的孕妇为研究对象.比较染色体核型分析和CMA检测结果,并使用Kappa一致性检验分析一致性水平.采用受试者工作者特征(ROC)曲线评估核型分析和CMA对胚胎停育染色体异常的诊断效能.多因素Logistic回归模型探讨影响绒毛染色体异常的危险因素。结果 CMA检测出更多的缺失、重复和嵌合重复的染色体结构异常,检测成功率更高,差异具有统计学意义(χ²值介于6.500~40.069之间,P<0.05);染色体核型分析和CMA检测结果的一致性为0.79;核型分析的ROC曲线下面积(AUC)为0.948(0.835~0.977),CMA的AUC为0.952(0.851~0.985);CMA检测出11例临床意义明确的致病性染色体结构异常;单因素分析结果表明年龄较大、无生育活产史、采用辅助生殖受孕,其染色体异常率均较高,差异有统计学意义(χ²值介于4.377~20.786之间,P<0.05);多因素Logistic回归结果显示高龄、辅助生殖受孕为影响绒毛染色体异常的危险因素(OR值介于3.241~5.419之间,P<0.05)。结论 染色体核型分析和染色体微阵列分析技术的检测结果具有较高一致性,且两种检测方法在胚胎停育染色体异常的诊断中均表现出良好的诊断效能.高龄及辅助生殖受孕为影响绒毛染色体异常的危险因素.

Abstract

Objective To explore the diagnostic value of chromosomal microarray analysis (CMA) and chromosome karyotype analysis in chromosomal abnormalities of embryo arrest and conduct consistency analysis. Methods A total of 324 pregnant women diagnosed with embryo arrest and treated with evacuation of uterus at the Maternity and Childcare Center of Qinhuangdao from January 2021 to January 2024 were selected as the research subjects. The results of chromosome karyotype analysis and CMA detection were compared, and the consistency level was analyzed using the Kappa consistency test. The receiver operating characteristic (ROC) curve was used to evaluate the diagnostic efficacy of chromosome karyotype analysis and CMA in chromosomal abnormalities of embryo arrest. Multivariate logistic regression model was used to explore the risk factors affecting chromosomal abnormalities in villi. Results CMA detected a higher number of chromosomal structural abnormalities, including deletions, duplications, and mosaic duplications, with a significantly higher detection success rate (χ ² ranged from 6.500 to 40.069, P<0.05). The consistency of chromosome karyotype analysis and CMA test results was 0.79. The area under the ROC curve (AUC) for chromosome karyotype analysis was 0.948 (0.835-0.977), while the AUC for CMA was 0.952 (0.851-0.985). CMA detected 11 cases of clinically significant pathogenic chromosomal structural abnormalities. The results of univariate analysis showed that the rate of chromosomal abnormalities was higher in older age, no history of live birth, and assisted reproductive conception, and the difference was statistically significant (χ² ranged from 4.377 to 20.786, P<0.05). The results of multiple logistic regression showed that advanced age and assisted reproductive conception were risk factors for chromosomal abnormalities in villi (OR ranged from 3.241 to 5.419, P<0.05). Conclusion The detection results of chromosome karyotype analysis and chromosomal microarray analysis technology have high consistency, and both detection methods have shown good diagnostic efficacy in the diagnosis of chromosomal abnormalities of embryonic arrest. Advanced age and assisted reproductive technology are risk factors affecting chromosomal abnormalities in villi.

关键词

染色体微阵列分析 / 染色体核型分析 / 胚胎停育 / 染色体异常 / 诊断价值

Key words

chromosomal microarray analysis / chromosome karyotype analysis / embryonic arrest / chromosome abnormality / diagnostic value

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基金资助

秦皇岛市科学技术研究与发展计划项目(202301A254)