1.1 Introduction

Congenital anomalies are defined as abnormalities of body structure or function that are present at birth and are of prenatal origin (1). Synonymous terms that are often used are “birth defects”, “congenital abnormalities” and “congenital malformations”, but the latter has a more specific meaning. For the purposes of this manual, the term “congenital anomalies” will be used throughout.

Picture of Individuals attending a health clinic in Kampala, Uganda, Africa

Individuals attending a health clinic in Kampala, Uganda, Africa

According to the World Health Organization (WHO) in 2010, an estimated 270,000 deaths globally were attributable to congenital anomalies during the first 28 days of life, with neural tube defects being one of the most serious and most common of these anomalies. In an effort to decrease the number of congenital anomalies worldwide, the Sixty-third World Health Assembly adopted a Birth defects resolution. Among other objectives, this resolution encourages countries to build in-country capacity related to the prevention of congenital anomalies and to raise awareness about their effects (2).

Through the development of a population-based surveillance programme that accurately captures congenital anomalies, countries can gain a better understanding of the burden of and risks for these conditions, refer identified infants to services in a timely manner, and use prevalence estimates to evaluate any current prevention or clinical management programmes. Countries can also use the information gathered to inform stakeholders and policy-makers about the importance of investing in programmes aimed at reducing the occurrence of congenital anomalies, and help them plan for appropriate services.