Castilla E E, Orioli I M, Lopez-Camelo J S
Am J Med Genet. 1985 Dec;22(4):717-25. doi: 10.1002/ajmg.1320220408.
The methods used by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) for monitoring the birth prevalence of multiply malformed infants are based on a clinical-epidemiological approach oriented to the early detection of teratogenic agents. They consist of three steps: 1) the analysis of observed vs expected rates of all congenital anomalies (CA), including their isolated and associated forms; 2) the same type of analysis applied to each multiple congenital anomaly (MCA) pattern; and 3) a clinical case presentation reserved only for those considered as true MCA because of presence of three or more independent CA. During the period 1982-1983 299,231 infants were examined. Multiply malformed infants, excluding Down syndrome cases, were born at a rate of 4/10,000, 40% having syndromes (two or more interrelated CA), 30% anomaly pairs, ie, two independent CA, and 30% true MCA cases. In a program with 150,000 births per year, as in ECLAMC, this means about five true MCA cases per week, a number easily handled individually on a clinical basis.
拉丁美洲先天性畸形合作研究(ECLAMC)用于监测多重畸形婴儿出生患病率的方法基于一种临床流行病学方法,旨在早期发现致畸因素。这些方法包括三个步骤:1)分析所有先天性异常(CA)的观察率与预期率,包括其孤立形式和相关形式;2)对每种多重先天性异常(MCA)模式进行相同类型的分析;3)仅对因存在三个或更多独立CA而被视为真正MCA的病例进行临床病例报告。在1982 - 1983年期间,对299,231名婴儿进行了检查。排除唐氏综合征病例后,多重畸形婴儿的出生患病率为4/10,000,其中40%患有综合征(两个或更多相互关联的CA),30%为异常对,即两个独立的CA,30%为真正的MCA病例。在一个像ECLAMC那样每年有150,000例分娩的项目中,这意味着每周约有5例真正的MCA病例,这一数量在临床上很容易单独处理。