Torfs C P, Christianson R E
California Birth Defects Monitoring Program, Emeryville 94608-1811, USA.
Epidemiology. 1999 May;10(3):264-70.
More than 50% of infants with Down syndrome have associated defects that cause considerable morbidity and mortality. We evaluated the hypothesis that the trisomic genome interacts with environmental factors to increase the risk for specific associated defects. We evaluated risk factors present during early pregnancy in a multiracial population of 687 infants with Down syndrome. Mother's cigarette smoking was associated with the grouped cardiac defects [odds ratio (OR)=2.0; 95% confidence interval (CI) = 1.2-3.2]. When adjusted for other cardiac defects and maternal race, the following specific defects were associated with smoking: atrioventricular canal (OR = 2.3; 95% CI = 1.2-4.5), tetralogy of Fallot (OR = 4.6; 95% CI = 1.2-17.0), and atrial septal defects without ventricular septal defect (OR = 2.2; 95% CI = 1.1-4.3). Hirschsprung disease was associated with mother's daily consumption of more than three cups of coffee (OR = 6.02; 95% CI = 1.2-29.7) and with mother's fever (OR = 3.4; 95% CI = 0.7-16.4), but the number of cases was small. Use of alcohol was not associated with any defect. Mother's race, age, parity, income, or education did not confound the associations. Results suggest that environmental factors can modify the occurrence of associated anomalies in the embryo with Down syndrome.
超过50%的唐氏综合征婴儿伴有可导致相当高发病率和死亡率的相关缺陷。我们评估了这样一种假说，即三体基因组与环境因素相互作用会增加特定相关缺陷的风险。我们在一个多种族的687名唐氏综合征婴儿群体中评估了孕早期存在的风险因素。母亲吸烟与合并心脏缺陷相关[比值比（OR）=2.0；95%置信区间（CI）=1.2 - 3.2]。在对其他心脏缺陷和母亲种族进行校正后，以下特定缺陷与吸烟相关：房室通道（OR = 2.3；95% CI = 1.2 - 4.5）、法洛四联症（OR = 4.6；95% CI = 1.2 - 17.0）以及无室间隔缺损的房间隔缺损（OR = 2.2；95% CI = 1.1 - 4.3）。先天性巨结肠与母亲每日饮用超过三杯咖啡（OR = 6.02；95% CI = 1.2 - 29.7）以及母亲发热（OR = 3.4；95% CI = 0.7 - 16.4）相关，但病例数量较少。饮酒与任何缺陷均无关联。母亲的种族、年龄、产次、收入或教育程度并未混淆这些关联。结果表明，环境因素可改变唐氏综合征胚胎中相关异常的发生情况。
