基因拷贝数变异联合细胞因子检测在早期流产病因诊断中的应用

doi:10.11958/20252918

天津医药 ›› 2026, Vol. 54 ›› Issue (6): 608-611.doi: 10.11958/20252918

基因拷贝数变异联合细胞因子检测在早期流产病因诊断中的应用

刘俊秀(), 宋艳敏, 赵明阳, 颛佳, 韩哲, 赵媛媛, 马华, 杨秀梅^△()

沧州市人民医院妇科（邮编061000）

收稿日期:2025-09-17 修回日期:2026-01-08 出版日期:2026-06-15 发布日期:2026-06-15
通讯作者: ^△E-mail：fukeyangxiumei2021@163.com
作者简介:刘俊秀（1992），女，主治医师，主要从事妇产科学方面研究。E-mail：liujunxiu569@163.com
基金资助:
河北省医学科学研究课题计划项目(20232090)

Application of gene copy number variation combined with cytokine detection in the etiological diagnosis of early abortion

LIU Junxiu(), SONG Yanmin, ZHAO Mingyang, ZHUAN Jia, HAN Zhe, ZHAO Yuanyuan, MA Hua, YANG Xiumei^△()

Department of Gynecology, Cangzhou People's Hospital, Cangzhou 065000, China

Received:2025-09-17 Revised:2026-01-08 Published:2026-06-15 Online:2026-06-15
Contact: ^△E-mail：fukeyangxiumei2021@163.com

刘俊秀, 宋艳敏, 赵明阳, 颛佳, 韩哲, 赵媛媛, 马华, 杨秀梅. 基因拷贝数变异联合细胞因子检测在早期流产病因诊断中的应用[J]. 天津医药, 2026, 54(6): 608-611.

LIU Junxiu, SONG Yanmin, ZHAO Mingyang, ZHUAN Jia, HAN Zhe, ZHAO Yuanyuan, MA Hua, YANG Xiumei. Application of gene copy number variation combined with cytokine detection in the etiological diagnosis of early abortion[J]. Tianjin Medical Journal, 2026, 54(6): 608-611.

摘要/Abstract

摘要：

目的探讨基因拷贝数变异（CNV）联合细胞因子检测在孕妇早期流产诊断中的应用价值及与母胎免疫失衡的关系。方法选取早期流产患者80例为研究组，同期进行常规产检的正常妊娠孕妇80例为对照组。2组患者均进行CNV检测，检测细胞因子白细胞介素（IL）-2、IL-4、IL-10、肿瘤坏死因子（TNF）-α水平。探讨CNV异常与辅助性T淋巴细胞1/辅助性T淋巴细胞2（Th1/Th2）失衡的关联性，及两者对发生早期流产的影响，分析发生早期流产的影响因素。采用受试者工作特征（ROC）曲线分析单一检测与联合检测对早期流产的诊断效能，明确联合检测的临床应用价值。结果研究组血清IL-2、TNF-α水平及Th1/Th2比值高于对照组，IL-4、IL-10水平低于对照组（P<0.05）。研究组CNV异常检出率为32.50%（26/80），高于对照组的2.50%（2/80，P<0.05）；研究组CNV异常检出者中Th1/Th2失衡率为84.62%（22/26），高于CNV正常者的51.85%（28/54，P<0.05）。多因素Logistic回归分析显示，CNV异常（OR=4.586，95%CI：3.582~5.590）、Th1/Th2失衡（OR=4.721，95%CI：3.577~5.865）均为早期流产的独立危险因素。CNV检测联合Th1/Th2失衡检测对早期流产的诊断效能最高，其曲线下面积（AUC）为0.894，高于单一CNV检测（AUC=0.743）和单一Th1/Th2失衡检测（AUC=0.733）。结论 CNV检测联合细胞因子检测可提高早期流产诊断准确性，CNV异常与Th1/Th2失衡均为早期流产的独立危险因素，可为病因诊断及临床干预提供参考。

关键词: DNA拷贝数变异, 细胞因子类, 流产, T淋巴细胞, 辅助诱导, Th1/Th2比值

Abstract:

Objective To explore the application value of gene copy number variation (CNV) combined with cytokine detection in the diagnosis of early abortion in pregnant women, and its relationship with maternal-fetal immune imbalance. Methods This study enrolled 80 early miscarriage patients as the study group, with 80 healthy pregnant women undergoing routine prenatal examination serving as the control group during the same period. Both groups of patients underwent chromosomal non-viability (CNV) testing and cytokine analysis (IL-2, TNF-α, IL-4 and IL-10). The research aimed to investigate the correlation between chromosomal abnormalities and Th1/Th2 immune imbalance, evaluate their impact on early miscarriage risk, and analyze the multifactorial mechanism contributing to this condition. The diagnostic efficacy of single testing versus combined testing for the early miscarriage was analyzed using receiver operating characteristic (ROC) curve, and the clinical application value of combined testing was clarified. Results The serum levels of IL-2 and TNF-α, as well as the Th1/Th2 ratio were higher in the study group than those in the control group, while the levels of IL-4 and IL-10 were lower (P<0.05). The detection rate of CNV abnormalities was 32.50% (26/80) in the study group, which was significantly higher than 2.50% in the control group (2/80, P<0.05). Among the CNV-abnormal subjects in the study group, the Th1/Th2 imbalance rate was 84.62% (22/26), which was significantly higher than that in CNV-normal subjects [51.85% (28/54), P<0.05]. Multivariate Logistic regression analysis revealed that CNV abnormalities (OR=4.586, 95%CI: 3.582-5.590) and Th1/Th2 imbalance (OR=4.721, 95%CI: 3.577-5.865) were independent risk factors for early miscarriage. The diagnostic efficacy of CNV detection combined with Th1/Th2 imbalance detection was the highest for early miscarriage, with an area under the curve (AUC) of 0.894, which was significantly higher than that of single CNV detection (AUC=0.743) or single Th1/Th2 imbalance detection (AUC=0.733). Conclusion The combination of CNV testing and cytokine analysis enhances the accuracy of early miscarriage diagnosis. Both CNV abnormality and Th1/Th2 imbalance are independent risk factors for early miscarriage, providing valuable insights for etiological diagnosis and clinical intervention.

Key words: DNA copy number variations, cytokines, abortion, T-lymphocytes, helper-inducer, Th1/Th2 ratio

中图分类号:

R715.5

图/表 5

参考文献 16

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组别	年龄/岁	BMI/（kg/m²）	孕周/周
对照组	27.53±1.69	24.23±1.27	7.62±1.30
研究组	27.60±1.71	24.36±1.31	7.67±1.26
t	1.052	1.873	0.985

组别	年龄/岁	BMI/（kg/m²）	孕周/周
对照组	27.53±1.69	24.23±1.27	7.62±1.30
研究组	27.60±1.71	24.36±1.31	7.67±1.26
t	1.052	1.873	0.985

组别	IL-2/ （ng/L）	IL-4/ （ng/L）	IL-10/ （ng/L）	TNF-α/ （ng/L）	Th1/Th2
对照组	8.92±2.55	12.61±2.84	18.34±3.55	16.23±4.38	0.91±0.32
研究组	15.62±3.21	8.24±2.14	12.51±3.05	28.74±5.49	1.85±0.57
t	14.325^＊＊	10.587^＊＊	10.864^＊＊	14.872^＊＊	12.685^＊＊

组别	IL-2/ （ng/L）	IL-4/ （ng/L）	IL-10/ （ng/L）	TNF-α/ （ng/L）	Th1/Th2
对照组	8.92±2.55	12.61±2.84	18.34±3.55	16.23±4.38	0.91±0.32
研究组	15.62±3.21	8.24±2.14	12.51±3.05	28.74±5.49	1.85±0.57
t	14.325^＊＊	10.587^＊＊	10.864^＊＊	14.872^＊＊	12.685^＊＊

因素	β	SE	Wald χ²	P	OR	OR95%CI
CNV	1.523	0.502	9.204	0.011	4.586	3.582~5.590
Th1/Th2	1.552	0.572	7.362	0.001	4.721	3.577~5.865
常数项	-5.231	1.896	7.682	0.006	0.005

基因拷贝数变异联合细胞因子检测在早期流产病因诊断中的应用

Application of gene copy number variation combined with cytokine detection in the etiological diagnosis of early abortion

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检测方法	AUC	95%CI	截断值	敏感度/%	特异度/%	约登指数
CNV	0.743	0.696~0.791	-	75.00	80.00	0.55
Th1/Th2	0.733	0.684~0.782	1.25	78.75	62.50	0.41
联合检测	0.894	0.861~0.928	-	97.50	77.50	0.75

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