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与子代先心病相关的孕前女性同型半胱氨酸风险值研究
作者:石慧1  杨世伟2  孙晓如1  姜志欣1  王丽娟1  程学英2  黄丽丽1  陈伟1  王参军3  吴玉璘1  许豪勤1  林宁1 
单位:1. 江苏省生殖健康检验中心/江苏省计划生育科学技术研究所 实验筛检中心, 江苏 南京 210036;
2. 南京市儿童医院 心内科, 江苏 南京 210008;
3. 东南大学附属中大医院 检验科, 江苏 南京 210009
关键词:先天性心脏病 同型半胱氨酸 受试者工作特征曲线 出生缺陷 一级预防 
分类号:R715.3
出版年·卷·期(页码):2018·37·第四期(593-596)
摘要:

目的:建立与子代先天性心脏病(先心病)相关的35岁以下育龄期妇女非孕期时同型半胱氨酸(HCY)的风险值,为构建子代先心病一级预防的框架提供科学依据。方法:选取180例先心病患儿母亲(病例组)和180例子代为正常儿童母亲(对照组),检测两组血清中HCY、叶酸和VB12浓度并进行统计学分析,绘制受试者工作特征曲线(ROC曲线)制定非孕期女性HCY风险值。结果:先心病患儿母亲平均HCY浓度为(10.48±3.34)μmol·L-1,对照组为(8.48±2.53)μmol·L-1,两者差异有统计学意义(P<0.05)。两组间叶酸和VB12浓度差异无统计学意义(P>0.05)。通过绘制ROC曲线,确定HCY诊断临界值为8.9 μmol·L-1,此时诊断敏感度为70.00%,特异性为65.00%。结论:与子代先心病相关的育龄期妇女非孕期时HCY风险值为8.9 μmol·L-1,可据此进一步制定个性化的叶酸增补方案,做好出生缺陷一级预防。

Objective:To establish the risk value of homocysteine(HCY) associated with offspring congenital heart disease(CHD) in non-pregnant women under 35 years of age for providing a scientific evidence for primary prevention. Methods:A total of 180 mothers of CHD children and 180 mothers of normal children were tested for serum HCY, folic acid and VB12 concentrations. ROC curves were drawn to determine the risk of HCY. Results:The average HCY concentration of the mothers with CHD children was (10.48±3.34)μmol·L-1, and the control group was (8.48±2.53)μmol·L-1, and the difference was statistically significant (P< 0.05). There was no statistically significant difference in the concentrations of folic acid and VB12 between the two groups. By plotting the ROC curve, the critical value of HCY diagnosis was 8.9 μmol·L-1, with a diagnostic sensitivity of 70% and a specificity of 65%. Conclusion:We have established a risk value of HCY in childbearing age women related to offspring CHD. A personalized folic acid supplementation program can be further developed for primary prevention of birth defects.

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