家族史及环境因素交互作用与子代先天畸形关系的定量研究

目的探讨家族史及环境因素与先天畸形的关系及其交互作用，定量分析可干预因素的预防分值。方法采用病例对照研究设计，选择符合纳入标准的185例先天畸形作为病例组，选择等量的正常儿作为对照组。对病例组和对照组的母亲进行问卷调查及标本检测，数据采用单因素和多因素非条件Logistic回归分析。结果Logistic回归分析有意义的因素为：家族史、孕早期发热、孕早期营养差、负性事件刺激、巨细胞病毒感染，比值比（OR）及其95％可信区间（95％CI）分别为：3．47（1．70～7．06）、2．74（1．17～6．42）、3．07（1．68～5．74）、1．84（1．00～3．37）、3．04（1．61～5．78），先天畸形阳性家族史与上述四个因素之间存在正交互作用，交互作用的超额相对危险度（RERI）分别为2．94、3．88、1．79、3．53；给定条件下可计算出全面控制可干预因素人群预防分值接近10％。结论先天畸形家族史和环境因素间存在正交互作用；采取高危策略可降低人群中先天畸形的患病风险。

Quantitative Study on the Interactions between Family History and Environmental Factors of Congenital Malformation

Objective To study the influencing factors and the interactions between family history and environmental factors of congenital malformation, and to put forward the key intervention factors by quantitative analysis of the action intensities and population attributable risk （ PAR% ） of the controllable factors. Methods A case - control study was carried out with 185 congenital malformation cases and 185 normal controls recruited by cluster sampling in Shandong province. All of the data were analysed with simple and multiple unconditional Logistic regression analysis. Results The risk factors of congenital malformation were positive congenital malformation family history （ OR =3.47, 95% CI： 1.70 ～7.06） , fever during early stages of pregnancy （ OR = 2. 74, 95% CI： 1.17 ～ 6.42 ） , poor nutrition during early stages of pregnancy （ OR = 3.07, 95% CI： 1.68～5.74）, negative life events during pregnancy （OR = 1.84, 95% CI： 1.00 ～ 3.37） and cytomegalovirus infection in pregnancy. There were positive interactions between positive congenital malformation family history and the other four environmental influencing factors. Under certain conditions, PAR% was about 10%. Conclusion Congenital malformation was caused by multiple influencing factors. There were positive additive interactions between positive congenital malformation family history and some environmental factors. When the controllable factors are intervened upon in high - risk population with positive family history, the decrease of risk of congenital malformation can be reached in general population.