Khoury M J, Waters G D, Erickson J D
Birth Defects and Genetic Diseases Branch, Centers for Disease Control, Atlanta, Georgia 30333.
Teratology. 1991 Jul;44(1):57-64. doi: 10.1002/tera.1420440110.
Infants with multiple congenital anomalies (MCA) can provide important clues in the detection of teratogenic agents. Definition, classification, and ascertainment of MCA vary, however. We present comparative epidemiologic data on MCA from two U.S. surveillance systems: the Metropolitan Atlanta Congenital Defects Program, which ascertains major birth defects during the first year of life, and the Birth Defects Monitoring Program, a nationwide system that relies on newborn hospital-discharge diagnoses. This system has two components: the Commission on Public Hospitals Activities (CPHA) and the McDonnell Douglas Health Information System (MDHIS). Our analyses were based on over 600,000 births occurring in Atlanta, and over 5 million births occurring nationwide. Infants were classified as having MCA if they had two or more major defects from different categories (central nervous system, eye, orofacial, gastrointestinal, cardiovascular, genitourinary, and musculoskeletal). Additional analyses were also done on infants with three or more defects. Compared with the nationwide system, Atlanta showed 1) a much higher rate of MCA (16.2 per 10,000 births vs. 4.9 and 3.8 per 10,000 births in CPHA and MDHIS, respectively) and 2) a higher rate of MCA with chromosomal syndromes (2.0 per 10,000 births vs. 0.6 and 0.3 per 10,000 births in CPHA and MDHIS, respectively). Moreover, in Atlanta, the proportion of MCA with recorded chromosomal syndromes increased substantially during 20 years. These data point to differences in the ascertainment of MCAs in birth defects surveillance systems. More effort is needed to improve the ascertainment and comparability of MCA in surveillance systems, an important step toward better detection of human teratogens.
患有多种先天性异常(MCA)的婴儿可为致畸剂的检测提供重要线索。然而,MCA的定义、分类和确诊情况各不相同。我们展示了来自美国两个监测系统的关于MCA的比较流行病学数据:大亚特兰大先天性缺陷项目,该项目在婴儿出生后的第一年确诊主要出生缺陷;以及出生缺陷监测项目,这是一个全国性系统,依赖于新生儿出院诊断。该系统有两个组成部分:公立医院活动委员会(CPHA)和麦克唐纳·道格拉斯健康信息系统(MDHIS)。我们的分析基于亚特兰大地区超过60万例出生病例以及全国范围内超过500万例出生病例。如果婴儿有来自不同类别(中枢神经系统、眼睛、口面部、胃肠道、心血管、泌尿生殖系统和肌肉骨骼系统)的两种或更多主要缺陷,则被归类为患有MCA。还对有三种或更多缺陷的婴儿进行了额外分析。与全国性系统相比,亚特兰大地区显示出:1)MCA的发生率要高得多(每10000例出生中有16.2例,而CPHA和MDHIS分别为每10000例出生中有4.9例和3.8例);2)伴有染色体综合征的MCA发生率更高(每10000例出生中有2.0例,而CPHA和MDHIS分别为每10000例出生中有0.6例和0.3例)。此外,在亚特兰大地区,记录有染色体综合征的MCA比例在20年期间大幅增加。这些数据表明出生缺陷监测系统在MCA确诊方面存在差异。需要做出更多努力来提高监测系统中MCA确诊的准确性和可比性,这是朝着更好地检测人类致畸剂迈出的重要一步。