What are birth defects?

Birth defects, also called congenital disorders, is a term used for any physical abnormality present from birth, though in many cases they are not recognised until much later.

They affect some aspect of the body’s structure or function, and may therefore have profound impacts on health and development of the child. These disorders vary widely, from chromosomal and genetic disorders through to congenital blindness or physical abnormalities such as spina bifida, cleft palate, or clubfoot.

• The majority have genetic causes – e.g. Down’s syndrome, sickle cell anaemia, congenital heart disease, thalassaemia
• They can also arise from environmental factors e.g. poor maternal nutrition, infections, or exposure to alcohol, drugs and chemicals during pregnancy
• Some are due to a combination of genetic and environmental factors

Why are they a problem?

• For individuals, birth defects are not only a leading cause of infant and childhood death – they can cause a lifetime of disability, poor health, unemployment, stigma and discrimination
• For families, the personal, social and economic costs of caring for someone with a birth defect can be immense, especially in poorer countries
• For countries, especially those with low and middle incomes, birth defects may seem unmanageable in the face of limited health care provision, and can be a drain on GDP

In 2010, the World Health Assembly recognised that tackling birth defects is imperative if the United Nations Millennium Development Goals for maternal and child health are to be achieved.

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What can be done?

There is a lot we can do. We know that up to 70% of birth defects are preventable or treatable, often through the use of simple interventions. For example:

• Providing dietary supplements such as folic acid to help prevent spina bifida
• Immunisation programmes against rubella and other maternal infections
• Introducing screening programmes before and during pregnancy and for newborns
• Training health workers to recognise conditions, allowing prompt treatment to prevent irreversible damage
• Health education programmes to help control maternal diseases such as syphilis and diabetes
• Nurturing community support networks
• Establishing basic surgical, rehabilitation and palliative care services

The commitment of policy makers and their health partners is crucial. Using the Toolkit can help gather evidence to use in support of gaining that commitment.