According to non-profit organisation Rare Diseases South Africa (RDSA), birth defects monitored by national surveillance are being underreported by 98% in South Africa.

Birth defects occur in every population worldwide but over 90% occur in developing countries where 95% of the birth defect related deaths occur.

In South Africa, one in 15 babies are affected by a birth defect, which equates to 7% of births annually. Only some defects are obvious at birth, such as club foot and cleft lip and/or palate, while others, such as congenital heart disorders, are hidden. Certain birth defects only manifest later in life, such as Alzheimer’s disease.

Inaccurate reporting has led to inadequate and under resourced genetic services for the care of those affected. As a result, the most vulnerable in South African society – children and the disabled – do not receive the care and treatment they require, and many die unnecessarily. This comes with a significant personal and socioeconomic cost.

With only 12 practicing medical geneticists in South Africa, or one per five million people, services have to be improved to meet the growing health need.

“It’s a myth that nothing can be done to treat birth defects,” said Chair of Genetic Alliance South Africa, Helen Malherbe.

“Scientific research has proved that 70% of birth defects can be prevented, cured or the disability reduced by providing early intervention – and yet these services are not available to most South Africans,” continued Malherbe.

Improving surveillance is a key step in responding to World Health Assembly Resolution 63.17 of 2010, which calls member countries to prioritise birth defects as a healthcare priority through a series of key activities.

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