FOLATE INTAKE AND METABOLISM, AND CONOTRUNCAL DEFECTS

描述(取自申请人的摘要)这项研究是 旨在对转诊为胎儿的妇女进行前瞻性队列研究 超声心动图。在接受这项测试的女性中，有14%的人 先天性心脏缺陷，尤指圆锥动脉干缺陷或 室间隔缺损(VSD)，将在子宫A队列中诊断 将由所有同意本议定书并接受 胎儿超声心动图(转诊队列)。第二个对照队列将 被选为OHSU产前诊所连续就诊的妇女 不接受胎儿超声心动图检查的正常妊娠。在.之前 转诊队列中16至26周的胎儿超声心动图 从产前诊所招募的队列中的受孕率，每个 女性将接受询问，以收集有关基本人口统计的信息 因素、生活方式、母亲和胎儿的危险因素，以及摄入 使用区块食物频率问卷调查特定食物。一条血路 样品将从所有女性中提取，并储存在-80℃。血浆叶酸 和B12，，RBC叶酸和同型半胱氨酸将被分析为嵌套 所有非霍奇金淋巴瘤患儿母亲血液样本的病例对照研究 圆锥干缺陷或室间隔缺陷，以及来自三个 日期与案例匹配的每个控件队列中的 抽血和胎龄。所有患有圆锥干畸形的儿童 或分离的室间隔缺损将进行22q11缺失的染色体分析。 被诊断为圆锥干畸形或室间隔缺损的结果将被确定。 由儿科心脏病专家，结合胎儿超声心动图，出生后 超声心动图和临床评估。这份协议将确定 如果叶酸或维生素B12摄入量过低或叶酸代谢异常 与先天性心脏缺陷的发生有关，

DESCRIPTION (obtained from the applicant's abstract) This study is designed as a prospective cohort study of women referred for fetal echocardiography. In 14 percent of women who undergo this test, a congenital heart defect, particularly a conotruncal defect or a ventricular septal defect (VSD), will be diagnosed in utero A cohort will be formed from all women who consent to this protocol and undergo fetal echocardiography (referral cohort). A second control cohort will be chosen as consecutive women seen in the prenatal clinics at OHSU with normal pregnancies who do not undergo fetal echocardiography. Prior to the fetal echocardiogram in the referral cohort, and at 16 to 26 weeks of gestation in the cohort recruited from the prenatal clinics, each women will be questioned to collect information about basic demographic factors, lifestyle maternal and fetal risk factors, and intake of specific foods using the Block food frequency questionnaire. A blood sample will be drawn from all women and stored at -80C. Plasma folate and B12,, RBC folate, and homocysteine will be analyzed as a nested case-control study in blood samples from all mothers of offspring with conotruncal defects or ventricular septal defects, and from three controls from each control cohort matched to the case on the date of the blood draw and gestational age. All children with conotruncal defects or isolated VSD will have a chromosomal analysis for 22q11 deletion. The outcome of a diagnosed conotruncal defect or VSD will be determined by a pediatric cardiologist, combining fetal echocardiography, postnatal echocardiography, and clinical assessment. This protocol will determine if low folate or vitamin B12 intakes or abnormal folate metabolism is related t the occurrence of congenital heart defects,