Lopez-Camelo J S, Orioli I M
Instituto Multidisciplinar de Biologia Celular, La Plata, Argentina.
Genet Epidemiol. 1996;13(5):469-81. doi: 10.1002/(SICI)1098-2272(1996)13:5<469::AID-GEPI3>3.0.CO;2-Y.
The aim of this work was to disclose risk factors associated with birth defects which were heterogeneously distributed in the different geographic regions sampled by the Latin American Collaborative Study of Congenital Malformations (ECLAMC). The material included 2,159,065 hospital births, delivered in the 1967-1989 period in 24 geographic regions of Latin America. Birth defect types with 50 case-control pairs or more were analyzed. A risk factor was defined as that available variable with differential geographic rates, correlated with those of a given birth defect type. Identified factors were tested by case-control multivariate logistic regression to confirm their role in the occurrence of the defect. Altitude and maternal acute illness during first trimester of pregnancy, named influenza, were risk factors for microtia. Prenatal drug exposure, mainly sex hormones, were connected with the occurrence of hypospadias in low frequency areas, while Native ancestry was a "protective" factor in the same regions. Acute (influenza), and chronic (epilepsy and syphilis) maternal illness during first trimester of pregnancy and gravidity higher than four were risk factors for cleft lip. The independence of these variables from maternal age suggested that low maternal socioeconomic level could explain the high birth defect order and, perhaps, syphilis in mothers. Postaxial polydactyly was associated with parental consanguinity, as well as Afro-American ancestry, suggesting genetic heterogeneity.
本研究的目的是揭示与出生缺陷相关的风险因素,这些出生缺陷在拉丁美洲先天性畸形协作研究(ECLAMC)所抽样的不同地理区域中分布不均。研究材料包括1967年至1989年期间在拉丁美洲24个地理区域医院分娩的2,159,065例出生病例。对病例数与对照数各为50对或更多的出生缺陷类型进行了分析。风险因素定义为具有不同地理发病率且与特定出生缺陷类型发病率相关的可用变量。通过病例对照多变量逻辑回归对确定的因素进行检验,以确认它们在缺陷发生中的作用。海拔高度以及孕期头三个月的母体急性疾病(称为流感)是小耳症的风险因素。产前药物暴露,主要是性激素,在低发病地区与尿道下裂的发生有关,而在同一地区,原住民血统是一个“保护”因素。孕期头三个月的急性(流感)和慢性(癫痫和梅毒)母体疾病以及妊娠次数超过四次是唇裂的风险因素。这些变量与母亲年龄无关,这表明母亲社会经济水平低可能解释了高出生缺陷率,或许还有母亲患梅毒的情况。轴后多指畸形与父母近亲结婚以及非裔美国人血统有关,这表明存在遗传异质性。