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超声NT联合血清AFP、hCG及Inhibin A检测在唐氏综合征产前筛查中的应用价值

The application value of ultrasonic NT combined with serum AFP,hCG and inhibin A in prenatal screening of Down's syndrome
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摘要 目的分析超声NT联合血清AFP、hCG及Inhibin A检测在DS产前筛查中的应用价值,以期为临床提供科学、有效筛查策略。方法纳入2021年7月至2023年5月隆昌市妇幼保健计划生育服务中心355例孕11至14周期间的孕妇作为研究对象。根据羊水穿刺与绒毛活检染色体分析结果作为金标准,据是否发生DS,分为两组。比较两组一般资料、血清AFP、hCG及Inhibin A、胎儿超声NT;采用多变量Logistic回归模型,分析影响DS发生的危险因素;绘制ROC曲线并计算AUC,建立超声NT检查联合血清AFP、hCG及Inhibin A的效能模型。结果据羊水穿刺与绒毛活检染色体分析发现,355例孕妇中15例确诊为DS,发生率为4.22%,归为DS组,340例孕妇则被归为非DS组。两组年龄、孕周、BMI、CRL、产次比较,差异无统计学意义(P>0.05);DS组有害物质接触史、吸烟史及服用叶酸时间短于3个月占比高于非DS组,差异具有统计学意义(P<0.05)。DS组血清hCG及Inhibin A水平高于非DS组,血清AFP低于非DS组,超声NT厚度厚于非DS组,差异具有统计学意义(P<0.05)。根据多变量Logistic回归模型分析发现,有有害物质接触史、有吸烟史、服用叶酸时间短于3个月、血清AFP、hCG及Inhibin A水平升高、胎儿超声NT增厚是影响DS发生的危险因素(P<0.05)。Hosmer-Lemeshow拟合度检验表明,Hosmer-Lemeshow拟合度检验显示,未加入血清检测预测模型和加入血清检测预测模型比较差异均无统计学意义(P=0.857、0.366)。而Z检验进一步确认两种模型ROC下面积之差比较差异具有统计学意义(P<0.05)。结论超声NT联合血清AFP、hCG及Inhibin A检测可显著提高DS产前检出率,为孕妇及其家庭提供更早的干预机会,有助于减少DS患儿出生,提高人口素质。 Objective To analyze the application value of ultrasound NT combined with serum AFP,hCG and inhibin A detection in prenatal screening of DS,to provide a scientific and effective screening strategy for clinical practice.Methods From July 2021 to May 2023,355 pregnant women during 11 to 14 weeks of pregnancy at Longchang Maternal and Child Health Family Planning Service Center were included in the study.According to the results of amniotic fluid puncture and villus biopsy chromosome analysis as the gold standard,they were divided into two groups based on whether DS occurred.General data,serum AFP,hCG and inhibin A level,and fetal ultrasound NT measurements were compared between the two groups.A multivari⁃ate logistic regression model was used to analyze the risk factors affecting the occurrence of DS.The ROC curve was drawn,and the AUC was calculated.An efficacy model combining ultrasound NT with serum AFP,hCG,and inhibin A was established.Results According to the analysis of amniotic fluid puncture and villus biopsy chromosomes,15 out of the 355 pregnant women were diagnosed with DS,with an incidence of 4.22%.These women were classified as the DS group,while the remaining 340 pregnant women were classified as the non⁃DS group.There were no significant differences in age,gestational age,BMI,CRL,and parity between the two groups(P>0.05).The proportion of exposure to harmful substances,smoking history and taking folic acid for less than 3 months in the DS group was higher than that in the non⁃DS group,and the difference was statistically significant(P<0.05).The levels of serum hCG and inhibin A in the DS group were higher than those in the non⁃DS group,the serum AFP was lower than that in the non⁃DS group,and the ultrasound NT thickness was thicker than that in the non⁃DS group,the differences were statistically significant(P<0.05).A multivariate lo⁃gistic regression model analysis revealed that a history of exposure to harmful substances,smoking,taking folic acid for less than 3 months,elevated serum AFP,hCG,and inhibin A levels,and fetal ultrasound NT thicken⁃ing were identified as risk factors for DS(P<0.05).The Hosmer⁃Lemeshow goodness⁃of⁃fit test showed that there was no significant difference between the prediction model without serum detection and the prediction model with serum detection(P=0.857,0.366).The Z test confirmed that the difference in the area under the ROC curve of the two models was statistically significant(P<0.05).Conclusion Ultrasound NT combined with serum AFP,hCG,and inhibin A detection can significantly improve the prenatal detection rate of DS.This combination can provide earlier intervention opportunities for pregnant women and their families,helping to re⁃duce the birth of children with DS and improve the overall quality of the population.
作者 熊文旭 郑丽 雷祠花 杨海蓉 徐利霜 XIONG Wenxu;ZHENG Li;LEI Cihua;YANG Hairong;XU Lishuang(Department of Ultrasound,Longchang Maternal and Child Health and Family Planning Service Center,Neijiang,Sichuan,China,642150)
出处 《分子诊断与治疗杂志》 2025年第5期807-810,814,共5页 Journal of Molecular Diagnostics and Therapy
基金 四川省医学青年创新科研课题计划(Q19039)。
关键词 超声NT AFP HCG Inhibin A 唐氏综合征 Ultrasound NT AFP hCG Inhibin A Down's syndrome
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