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

doi:10.11958/20252918

Abstract

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

CLC Number:

R715.5

Figures/Tables 5

References 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