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Patterns and trends of multiple congenital anomalies in birth defects surveillance systems
M J Khoury1, G D Waters, J D Erickson
1Birth Defects and Genetic Diseases Branch, Centers for Disease Control, Atlanta, Georgia 30333.
Insights
Infants with multiple congenital anomalies (MCA) are key to detecting teratogens. However, surveillance systems show significant differences in MCA rates and ascertainment, impacting teratogen detection efforts.
Area of Science:
- Epidemiology
- Birth Defects Surveillance
- Teratology
Background:
- Multiple congenital anomalies (MCA) are crucial indicators for identifying environmental teratogenic agents.
- Variations in defining, classifying, and ascertaining MCA complicate comparative analyses across surveillance systems.
- Accurate MCA data is essential for understanding developmental origins of health and disease.
Purpose of the Study:
- To compare epidemiologic data on MCA between a regional surveillance system and a nationwide system.
- To highlight discrepancies in MCA ascertainment and reporting between different birth defect surveillance programs.
- To emphasize the need for improved standardization in MCA surveillance for effective teratogen detection.
Main Methods:
- Comparative analysis of MCA rates using data from the Metropolitan Atlanta Congenital Defects Program and the nationwide Birth Defects Monitoring Program (including CPHA and MDHIS).
- Classification of infants with two or more major defects from different categories as having MCA.
- Analysis of over 600,000 births in Atlanta and over 5 million nationwide.
Main Results:
- The Atlanta system reported significantly higher rates of MCA (16.2/10,000 births) compared to nationwide systems (4.9/10,000 in CPHA, 3.8/10,000 in MDHIS).
- Higher rates of MCA with chromosomal syndromes were observed in Atlanta (2.0/10,000 births) versus nationwide systems (0.6/10,000 in CPHA, 0.3/10,000 in MDHIS).
- A notable increase in the proportion of MCA with chromosomal syndromes was recorded in Atlanta over 20 years.
Conclusions:
- Significant differences exist in MCA ascertainment and reporting across U.S. birth defect surveillance systems.
- Improved standardization and comparability of MCA data are necessary for robust teratogen detection.
- Enhanced surveillance efforts are critical for identifying environmental factors affecting fetal development.
Abstract:
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.