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More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth defects is increasing. Prevention, diagnosis, treatment and care interventions for birth defects are available but are needed where the burden is highest, low-and-middle-income countries.

Without concerted global action to improve primary prevention and care for children born with birth defects, the SDG targets for child survival will not be met.

Congenital anomalies, also known as birth defects, are structural or functional abnormalities, including metabolic disorders, which are present at birth. Congenital anomalies are a diverse group of disorders of prenatal origin, which can be caused by single-gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens or micronutrient malnutrition.

This manual is intended to facilitate the collection of essential information for the purpose of assessing and tracking the burden of congenital anomalies.

Highlights

This manual will help the reader to:

• Describe the purpose and importance of public health surveillance of congenital anomalies
• Describe the use of logic models for planning and evaluation of a surveillance programme
• Understand how to present data to policy-makers
• Identify an initial list of congenital anomalies to consider for monitoring
• Describe the tools needed to ascertain and code identified cases
• Describe the processes for managing and analysing data
• Understand how to calculate the prevalence of congenital anomalies

How to Use

This manual is intended to serve as a tool for the development, implementation and ongoing improvement of a congenital anomalies surveillance programme, particularly for countries with limited resources. The focus of the manual is on population-based and hospital-based surveillance programmes. Any country wishing to expand its current hospital-based programme into a population-based programme, or to begin the initial development of a population-based registry, should find this manual helpful in reaching its goal.

Serious birth defects can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory or visual disability. Data presented in this report show that at least 3.3 million children under five years of age die from birth defects each year and an estimated 3.2 million of those who survive may be disabled for life.

Birth defects are a global problem, but their impact is particularly severe in low- and middle-income countries where more than 94 percent of the births with serious birth defects and 95 percent of the deaths of these children occur.

Highlights

• This report was the first to provide global estimates of birth prevalence for serious birth defects of genetic or partially genetic origin.
• The accompanying database in Appendix B provides the first systematic, country-by-country summary of annual births of infants with specific serious birth defects of genetic or partially genetic origin.
• According to the data in this report, five common serious birth defects of genetic or partially genetic origin in 2001 were: (1) congenital heart defects (1,040,835 births); (2) neural tube defects (323,904 births); (3) the hemoglobin disorders thalassemia and sickle cell disease (307,897 births); (4) Down syndrome (trisomy 21) (217,293 births); and (5) glucose-6-phosphate dehydrogenase (G6PD) deficiency (177,032 births). Combined, these five conditions account for about 25 percent of all of birth defects of genetic or partially genetic origin.

How to Use

The report includes recommendations that countries can take to prevent birth defects and improve the care of affected children in low- and middle-income countries. These steps can be implemented in two phases, according to the health needs and economic capacities of a given country.

Personal testimonies discussing the experience of stillbirth can be found on the Healthy Newborn Network blog series on stillbirth here. These testimonies offer an important perspective of the human cost of stillbirth and support advocacy efforts.