中文摘要：

目的筛选先天性心脏畸形（CHD）母体血清差异表达蛋白质，明确和CHD相关的候选标志物。方法收集40例CHD胎儿（实验组）母亲血清和10例正常胎儿（对照组）母亲血清，其中实验组包括法洛氏四联征10例，室间隔缺损10例，共同动脉干10例，其他少见先天性心脏畸形10例。每组10例标本等体积混合后，应用同位素标记相对和绝对定量技术（iTRAQ）对蛋白质进行鉴定和相对定量。结果孕妇外周血血清中共鉴定到蛋白质606个，实验组与对照组差异达到1.5倍以上的蛋白质47个，其中23个在实验组中上调，24个在实验组中下调。结论基于iTRAQ技术的蛋白质组学方法能鉴定出多种CHD相关的差异蛋白，CHD发生是一个多种蛋白质分子参与的结果。

英文摘要：

Objective To screen for serum protein differentially expressed between women whose fetuses had congenital heart defects （CHD） and women who had nortnal fetuses. Methods Serum samples were collected from pregnant women whose fetuses had CHD and those whose fetuses had no CHD, including a CHD group of 40 women and a control group of 10 women. The CHD group included 4 subgroups as follows ： tetralogy of Fallot, ventricular septal defects, persistent truncus arteriosus, and a mixture of relatively rare types of CHD （ n = 10 each）. Samples in the same group were pooled to obtain equal amounts of proteins, and the iTRAQ proteomic approach was used to identify and quantify the proteins dif- ferentially expressed amoog these groups. Results We successfully identified 606 proteins, among which 47 showed at least a 1.5-fold difference between the CHD and control groups. Among the 47 proteins, 23 and 24 were upregulated and downregulated, respectively. Conclusion Several proteins associated with CHD could be identified by using the iTRAQ proteomic approach, and various proteins were involved in the pathogenesis of CHD in this study.