World Birth Defects Day: When less is definitely more


Birth defects monitored by national surveillance are being underreported by 98% in South Africa (Lebese et al 2016).

World Birth Defects DayInaccurate reporting has led to inadequate and under resourced genetic services for the care of those affected. The most vulnerable of our 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. Improved surveillance is now an imperative step to ensure those affected receive the care they require, as is their constitutional right.

In South Africa, 1 in 15 babies are affected by a birth defect, which equates to 7% of births annually (Malherbe et al 2015). 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.

“It’s a myth that nothing can be done to treat birth defects,” says Helen Malherbe, Chair of Genetic Alliance South Africa. “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,” she adds (Czeizel et al 1993; Alwan & Modell 1997; WHO 1996; Christianson & Modell 2004; WHO 2006)

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 health care priority through a series of key activities (World Health Assembly 2010). Birth defects are currently the leading cause of death in children in high income countries, accounting for 28% of deaths in children under 5 years of age (WHO 2015). With only 12 practising medical geneticists in South Africa (one per 5 million people) services have to be improved to meet the growing health need (Malherbe et al 2016).

Birth defects are abnormalities in structure of function, including metabolic disorders that are present from birth (WHO 2006). They occur in every population worldwide but over 90% occur in developing countries where 95% of the birth defect related deaths occur (Christianson et al 2006). Serious birth defects may cause death or lifelong disability. The majority are genetic or partially genetic in cause and occur before conception, while the remainder are caused by abnormalities of the foetal environment (e.g. alcohol, recreational drugs, maternal illness etc.) that occur after conception (Wittenburg 2009).

Genetic Alliance South AfricaFor more information, go to the Genetic Alliance South Africa Facebook Page.


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