Fixler D E, Threlkeld N
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235, USA.
Teratology. 1998 Jul;58(1):6-12. doi: 10.1002/(SICI)1096-9926(199807)58:1<6::AID-TERA4>3.0.CO;2-0.
The purpose of this study was to determine whether there are important differences in maternal and environmental prenatal risk factors between liveborn Down syndrome infants with congenital heart defects and Down syndrome infants without heart defects. Using a case control study design, we evaluated the risk associated with maternal illness, drug ingestion, substance usage, and chemical exposures in the home or workplace. The period of risk selected was 3 months before and 3 months after the last menstrual period, because cardiac development occurs early, before the mother may become aware of her pregnancy. Because fetal survival in Down syndrome may be more vulnerable to various exposures, controls were selected who also had trisomy 21. Of 171 infants studied, 89 were cases with congenital heart disease, and 82 were controls without heart disease. All interviews were performed by one nurse practitioner using a structured standardized questionnaire. Cases and controls had similar maternal ages, family incomes, parental education levels, and contraceptive practices before pregnancy. No differences were found between case and control mothers for maternal illness, medication use, or consumption of caffeinated beverages, cigarettes, or alcohol. Reporting of recreational drug usage was infrequent, may reflect underreporting, and did not differ between cases and controls. Maternal exposures were commonly reported for pesticides (50%), hair dyes (22%), craft paints (8%), varnishes (7%), and solvents (3.5%). However, in none of the categories was maternal exposure significantly more prevalent among case mothers than among control mothers. The failure of this study to identify risk factors for cardiac malformations may be attributable to the small differences in reported frequencies reducing statistical power or to the possibility that cardiac malformation in Down syndrome is a direct result of chromosomal duplication.
本研究的目的是确定患有先天性心脏病的活产唐氏综合征婴儿与无心脏病的唐氏综合征婴儿在母亲及环境产前风险因素方面是否存在重要差异。采用病例对照研究设计，我们评估了与母亲疾病、药物摄入、物质使用以及家庭或工作场所化学暴露相关的风险。所选的风险期为末次月经前3个月和后3个月，因为心脏发育在早期就已发生，此时母亲可能尚未意识到自己怀孕。由于唐氏综合征胎儿的存活可能更容易受到各种暴露的影响，因此选择同样患有21三体综合征的婴儿作为对照。在研究的171名婴儿中，89例患有先天性心脏病，82例为无心脏病的对照。所有访谈均由一名执业护士使用结构化标准化问卷进行。病例组和对照组在母亲年龄、家庭收入、父母教育水平以及怀孕前的避孕措施方面相似。在母亲疾病、药物使用或含咖啡因饮料、香烟或酒精的消费方面，病例组和对照组母亲之间未发现差异。娱乐性药物使用的报告很少，可能反映了报告不足的情况，且病例组和对照组之间无差异。母亲暴露情况常见的有农药（50%）、染发剂（22%）、工艺漆（8%）、清漆（7%）和溶剂（3.5%）。然而，在任何类别中，病例组母亲的暴露情况均未显著高于对照组母亲。本研究未能识别出心脏畸形风险因素，可能是由于报告频率的微小差异降低了统计效力，或者是由于唐氏综合征中的心脏畸形是染色体复制的直接结果。
