Holmes L B, Kleiner B C, Leppig K A, Cann C I, Muñoz A, Polk B F
Embryology-Teratology Unit, Massachusetts General Hospital, Boston 02114.
Teratology. 1987 Dec;36(3):291-7. doi: 10.1002/tera.1420360304.
Cohort studies of putative human teratogens can identify the full spectrum of phenotypic effects, including both major malformations and minor anomalies. Cohort studies which include the much more common minor anomalies make it possible to use a relatively small number of exposed and unexposed infants to identify an increase in the frequency of malformations. We evaluated this use of minor anomalies in a cohort study of newborn infants who had been exposed in utero to three putative teratogens: insulin-dependent diabetes mellitus in the mother and the use of the anticonvulsant phenytoin and exogenous sex hormones by the mother. In addition, the reproducibility of identifying minor anomalies was tested by comparing the results of examinations by two independent observers of 444 unexposed infants. The frequency of minor anomalies was increased among infants of diabetic mothers. However, the reproducibility of identifying minor anomalies was poor. We conclude that the examination of teratogen-exposed infants for minor anomalies cannot be used in epidemiologic studies of putative teratogens unless special efforts are made to maximize consistency in the identification of these features.
对假定的人类致畸剂进行队列研究，可以确定表型效应的全貌，包括主要畸形和轻微异常。包含更为常见的轻微异常的队列研究，使得利用相对少量的暴露和未暴露婴儿来确定畸形频率的增加成为可能。我们在一项队列研究中评估了轻微异常的这种用途，该研究对象是子宫内暴露于三种假定致畸剂的新生儿：母亲患胰岛素依赖型糖尿病、母亲使用抗惊厥药苯妥英以及使用外源性性激素。此外，通过比较两名独立观察者对444名未暴露婴儿的检查结果，测试了识别轻微异常的可重复性。糖尿病母亲的婴儿中轻微异常的频率有所增加。然而，识别轻微异常的可重复性较差。我们得出结论，除非做出特别努力以最大限度地提高这些特征识别的一致性，否则对暴露于致畸剂的婴儿进行轻微异常检查不能用于假定致畸剂的流行病学研究。
