Khoury M J, Becerra J E, Cordero J F, Erickson J D
Birth Defects and Genetic Diseases Branch, Centers for Disease Control, Atlanta, Georgia 30333.
Pediatrics. 1989 Oct;84(4):658-65.
The concepts of sensitivity, specificity, and predictive value can be used to assess patterns of birth defects associated with human teratogens. Although sensitivity of any single defect is generally low for many known teratogens, the presence of specific defect combinations is usually predictive of the teratogen. To evaluate the patterns of birth defects associated with diabetic embryopathy, a sensitivity-specificity analysis was performed on 4929 infants with major defects ascertained by the population-based Metropolitan Atlanta Congenital Defects Program between 1968 and 1980. By reviewing hospital records, maternal insulin-dependent diabetes mellitus was confirmed in 26 infants. Patterns of defects were evaluated among infants born to mothers with insulin-dependent diabetes mellitus and compared with the rest of the Metropolitan Atlanta Congenital Defects Program case population. Multiple logistic regression analysis was used to assess defect combinations that predict for insulin-dependent diabetes mellitus. Of 26 infants, 8 had multiple defects. However, most defects and their combinations were poorly sensitive and predictive for insulin-dependent diabetes mellitus. The predictive value for insulin-dependent diabetes mellitus was greatest for the combination of vertebral and cardiovascular anomalies (6.5%). Also, several pathogenetic mechanisms were noted among patients with insulin-dependent diabetes mellitus, such as cell migration defects, cell death events, deformations, and cardiac flow lesions. The inability to find a clear-cut phenotype for diabetic embryopathy may be due to several etiologic factors and mechanisms associated with diabetic embryopathy.
敏感性、特异性和预测值的概念可用于评估与人类致畸剂相关的出生缺陷模式。尽管对于许多已知的致畸剂而言，任何单一缺陷的敏感性通常较低，但特定缺陷组合的存在通常可预测致畸剂。为了评估与糖尿病胚胎病相关的出生缺陷模式，对1968年至1980年间通过基于人群的大亚特兰大先天性缺陷项目确诊患有主要缺陷的4929名婴儿进行了敏感性-特异性分析。通过查阅医院记录，在26名婴儿中确诊为母亲患有胰岛素依赖型糖尿病。对胰岛素依赖型糖尿病母亲所生婴儿的缺陷模式进行了评估，并与大亚特兰大先天性缺陷项目病例人群的其他部分进行了比较。采用多元逻辑回归分析来评估可预测胰岛素依赖型糖尿病的缺陷组合。在这26名婴儿中，有8名存在多种缺陷。然而，大多数缺陷及其组合对胰岛素依赖型糖尿病的敏感性和预测性都很差。对于脊椎和心血管异常的组合，胰岛素依赖型糖尿病的预测价值最大（6.5%）。此外，在胰岛素依赖型糖尿病患者中还发现了几种致病机制，如细胞迁移缺陷、细胞死亡事件、畸形和心脏血流病变。无法找到糖尿病胚胎病的明确表型可能是由于与糖尿病胚胎病相关的几种病因和机制。
