Congenital Anomalies: State of the Art and the New Paradigms for a Precision Public Health Approach

Congenital anomalies are common health events, comprising a total prevalence of 3-4 % and a live birth prevalence of 2-3%. They have a substantial impact on the risk of infant and childhood mortality and long-term health outcomes. They are also associated with large personal, familial and health system costs during childhood and across the lifespan. The etiology of many congenital anomalies is poorly understood, but this is an important and very active area of research. There is a growing literature on the risk factors, particularly genetic and epigenetic factors, as well as environmental factors and teratogenic effects of medications that can be further explored by an increasing variety of approaches.

This Research Topic will cover several aspects of congenital anomalies, including their prevalence, pre- and post-natal diagnosis, clinical (including surgical) management, short- and long-term health outcomes of congenital anomalies, disease codification, and intersections with rare diseases and cancer. It will traverse the foundational tenants of epidemiological approaches and the state of the art. It will also explore congenital anomalies as an example for the precision public health approach, which, put simply, can be stated as using the best available data to target more effectively and efficiently various modes of interventions to those most in need.