In South Africa, one in 15 babies are affected by a birth defect. “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,” explains Helen Malherbe, chair of Genetic Alliance South Africa. “Certain birth defects only manifest later in life, such as Alzheimer’s disease.”
What is a birth defect?
The World Health Organization describes a birth defect as an abnormality in structure or function of a person that is present from birth.
The majority of birth defects are genetic or partially genetic in cause and occur before conception. The remainder are caused by abnormalities of the foetal environment (alcohol, recreational drugs, maternal illness, etc) that occur after conception.
Serious birth defects can cause death or life-long disability.
Birth defect myths debunked
Myth: Birth defects are not an issue.
Truth: Birth defects, also known as congenital disorders, are underreported by 98% in South Africa. Many cases are not reported because they are never diagnosed or are misdiagnosed due to the lack of appropriately-trained clinicians and adequate facilities. This inaccurate assessment results in an underestimate of the true contribution of birth defects to the disease burden, preventing the necessary financial commitment and allocation of resources for services.
Myth: Nothing can be done for children with birth defects.
Truth: Up to 70% of birth defects can be prevented or treated. Prevention measures include no alcohol during pregnancy. Curative treatment includes surgery for conditions such as congenital dislocated hip, cleft lip or palate, gastrointestinal tract abnormalities and undescended testes. Long-term treatment and rehabilitation can reduce disability and improve the quality of life of those affected.
Myth: Intervention is too expensive.
Truth: Not all interventions are high tech. Some birth defects can be corrected with only a surgery.
Myth: There’s no capacity or infrastructure for the medical programmes needed.
Truth: Although limited services are documented in South Africa as far back as the 1950s, genetic services only really gained momentum in the 1990s. People were starting to live longer and fewer babies and children were dying, because infectious diseases were becoming under control.
The focus then switched back to infectious diseases when the HIV/AIDS epidemic emerged, and this became a greater health priority. As a result genetic services declined over the past 25 years and are functioning at only 10% of required levels.
So although genetic services are provided for in the National Health Act (Act 61 of 2003), there is a shortfall in implementation.
Currently, there are only 12 medical geneticists in South Africa (one per 4.9 million of the population) and eight genetic counsellors in public service (one per 8.4 million), which is far below required capacity.
Why are genetic services so important?
Collectively, the interventions to prevent, detect, diagnose and care for those affected by birth defects are called medical genetic services. They aim to provide the “best possible patient care” in the circumstances for those affected or at risk of birth defects, ensuring they can “live and reproduce as normally as possible”.
Genetic services are divided into three categories:
Ensuring babies are born free of birth defects (pre- and post-conception) through:
- Family planning
- Optimal diet (folate and iron fortification and abstaining from alcohol and harmful substances)
- Pre-conception screening
- Managing maternal infections like rubella and syphilis
- Treating health conditions correctly like diabetes, epilepsy, deep vein thrombosis or cardiac conditions
- Genetic counselling for those at an increased risk of having an affected baby.
Reducing the number of babies born with birth defects through screening, including:
- Advanced maternal age screening
- Prenatal diagnosis, genetic counselling and psychosocial support – with the resulting options of treatment or medical termination of pregnancy.
Tertiary prevention and care
- Early detection, cure, amelioration and care once a child is born with a birth defect. This includes early diagnosis by a clinical examination at birth and biochemical screening and care, which may include therapeutic treatments, surgery, rehabilitation (occupational speech and physiotherapies), palliative care, genetic counselling and psychosocial support.
“Genetic services should be a balance between care and prevention, and the first priority must be to care for those already affected,” concludes Helen.
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