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同型半胱氨酸、叶酸、uE3诊断出生缺陷价值及与染色体异常的相关性

Diagnostic value of the levels of homocysteine,folate and uE3 of pregnant women for their fetal birth defects and their correlation with the fetal chromosomal abnormalities
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摘要 目的:探讨同型半胱氨酸(Hcy)、叶酸(FA)、游离雌三醇(uE3)对出生缺陷的诊断价值,并分析其与染色体异常的相关性。方法:选取2021年1月-2023年12月本院产前检查孕产妇临床资料,其中胎儿结构发育异常82例为出生缺陷组,正常产妇164例作为对照组。比较两组血清Hcy、FA、uE3水平,构建二元logistic回归模型,受试者工作特征(ROC)曲线分析3项指标诊断出生缺陷价值,分析出生缺陷组合并染色体异常孕妇血清Hcy、FA、uE3水平与染色体异常发生的相关性。结果:出生缺陷组血清Hcy(7.27±1.20μmlo/L)高于对照组(6.26±1.15μmlo/L),FA(27.78±2.61nmlo/L)、uE3(1.62±0.27MoM)低于对照组(30.77±2.85nmlo/L、1.85±0.17MoM)(均P<0.05)。二元logistic回归模型分析,出生缺陷计算公式=0.943Hcy-0.335×FA-3.040×uE3+8.039;ROC曲线分析,Hcy、FA、uE3及3项联合诊断出生缺陷的曲线下面积分别为0.747、0.779、0.862、0.878,敏感度分别为65.2%、65.2%、81.1%、90.2%,特异度分别为80.5%、78.1%、91.5%、84.5%。与未合并染色体异常异常孕妇比较,合并染色体异常孕妇血清Hcy水平更高,FA、uE3水平更低;经Spearman分析,胎儿结构发育异常孕妇Hcy与染色体异常成正相关,FA、uE3与染色体异常呈负相关(均P<0.05)。结论:血清Hcy、FA、uE3联合检测可提高出生缺陷诊断价值,且3项指标水平与染色体异常具有相关性。 Objective:Explore the diagnostic value of the levels of homocysteine(Hcy),folic acid(FA)and free estriol(uE3)of pregnant women for their fetal birth defects,and to study their correlation with the fetal chromosomal abnormalities.Methods:The clinical data of the pregnant women who had undergone prenatal examination from January 2021 to December 2023 in the hospital were selected in this study retrospectively.Among them,82 cases with the fetal structural abnormalities were selected in study group,and 164 cases with normal fetuses were selected in control group.The levels of serum Hey,FA and uE3 of the women were compared between the two groups.The binary logistic regression model was constructed,and receiver operating characteristic(ROC)curve was used to analyze the values of the levels of serum Hcy,FA and uE3 of the women for diagnosing their fetal birth defects.The correlation between the serum Hcy,FA,uE3 levels of the pregnant women and their fetal chromosomal abnormalities was analyzed.Results:The serum Hcy level(7.27±1.20μmlo/L)of the women in the study group was significantly higher than that(6.26±1.15μmlo/L)of the women in the control group.The levels of the serum FA(27.78±2.61 nmlo/L)and uE3(1.62±0.27 MoM)of the women in the study group were significantly lower than those(30.77±2.85 nmlo/L and 1.85±0.17 MoM)of the women in the control group(all P<0.05).Binary logistic regression model analysis showed that the calculation formula of the fetal birth defects=0.943Hcy-0.335×FA-3.040×uE3+8.039.ROC curve analysis showed that the areas under the curve of the Hcy level,the FA level,the uE3 level and the combination of the Hcy,FA and uE3 levels of the women for diagnosing their fetal birth defects were 0.747,0.779,0.862 and 0.878,respectively,the sensitivities of which were 65.2%,65.2%,81.1%and 90.2%,respectively,and the specificity of which were 80.5%,78.1%,91.5%and 84.5%,respectively.The level of the serum Hcy of the pregnant women with the fetal chromosomal abnormalities was significantly higher than that of the pregnant women without the fetal chromosomal abnormalities,but the levels of serum FA and uE3 of the pregnant women with the fetal chromosomal abnormalities were significantly lower.Spearman analysis showed that the Hcy level of the pregnant women with the fetal structural dysplasia was positively correlated with their fetal chromosomal abnormalities,and the FA and uE3 levels of the pregnant women with the fetal structural dysplasia were negatively correlated with their fetal chromosomal abnormalities(all P<0.05).Conclusion:The combination detections of the serum Hcy,FA and uE3 levels of the pregnant women for diagnosing their fetal birth defects can increase the value.The serum Hcy,FA and uE3 levels of the pregnant women are all correlation with their fetal chromosomal abnormalities.
作者 吴燕 王萍 吕美丹 WU Yan;WANG Ping;LV Meidan(Yongkang Women and Children's Health Care Hospital,Yongkang,Zhejiang Province,321300)
出处 《中国计划生育学杂志》 2024年第12期2915-2918,共4页 Chinese Journal of Family Planning
关键词 出生缺陷 染色体异常 同型半胱氨酸 叶酸 游离雌三醇 诊断 相关性 Birth defects Chromosomal abnormalities Homocysteine Folic acid Free estriol diagnosis Correlation
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