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Why Register Congenital Anomalies?

There are two main reasons why congenital anomaly registers are established:

1. To facilitate the identification of teratogenic exposures. Ever since thalidomide and rubella (german measles) were discovered as powerful teratogens, registries have been set up to facilitate research and surveillance concerning environmental causes of congenital anomalies, and to give early warning of new teratogenic exposures. Registers are also used for genetic studies, and increasingly for research into the interaction of genetic and environmental factors in causing congenital anomalies. Congenital anomalies are registered not only for their intrinsic importance, but as indicators of other adverse pregnancy outcomes linked to teratogenic exposures such as spontaneous abortions and neurobehavioural outcomes that are not as amenable to surveillance.
    

2. For the planning and evaluation of health services. This includes primary prevention strategies such as periconceptional folic acid supplementation to prevent neural tube defects and vaccination against rubella to prevent congenital rubella syndrome, so-called "secondary prevention" by prenatal screening and diagnosis, and tertiary prevention through paediatric, rehabilitative and other services. Population-based registries are a particularly powerful tool for the evaluation of health services, because they represent the experience of a whole community, not the outcomes of specialist units which may serve only a selected group of women or children, or which may have atypical human or financial resources. Many birth defect registries in Europe have been set up to provide a mechanism for the audit of prenatal screening practice. The registry can provide data on the proportion of cases of congenital anomaly diagnosed prenatally, the proportion of positive prenatal screening results which were confirmed as cases of congenital anomaly, and the proportion of prenatally diagnosed cases which led to termination of pregnancy, as well as related information about prenatal screening methods.