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Getting ready for baby: Why some couples should consider genetic counselling

For some parents, genetic counselling could help catch birth defects early enough to treat them affordably. For others, it can be the first step in welcoming a special needs baby into the family — that is, if they can get it.

No one expects their baby to be born with a birth defect. But allowing families to plan for them from before they conceive to birth could be the key to keeping these babies alive, says Helen Malherbe, chair of the nonprofit advocacy group Genetic Alliance South Africa.

Malherbe also researches birth defects, sometimes called congenital disorders, at the University of KwaZulu-Natal’s School of Laboratory Medicine and Medical Sciences. She was speaking at the University of the Witwatersrand’s (Wits) annual Paediatric Fund Meeting held recently in Johannesburg. 

Most birth defects, such as Down syndrome or cleft palate, are caused by genetic factors determined long before a baby is born, explains the World Health Organisation (WHO) on its website. Babies with birth defects may look or function differently from others. 

In some cases, defects are caused by substance abuse, as is the case with Foetal Alcohol Syndrome (FAS). WHO data shows South Africa has the most cases of FAS in the world. 

Hundreds of babies if not more are born with congenital disorders each year, according to data collected by the national health department’s Birth Defect Notification Tool between 2006 and 2014. The data was published in a 2016 South African Medical Journal study

Malherbe warns that this proportion is likely far higher since health workers are not trained to recognise many of the conditions, which can be difficult to spot. In fact, a lack of properly trained staff means the country could be missing up to 98% of birth defects, the 2016 study revealed.  

Child deaths have decreased by around 30% since 2002, Statistics South Africa data shows. Malherbe argues this is in large part because of the roll-out of South Africa’s HIV treatment and child vaccination programmes. 

But South African Medical Research Council figures show that about 32 out of every 1000 babies born in the country still die before the age of five. And previous declines in death rates have stagnated since 2011. 

Now is the time for South Africa to start investing in genetic services such as genetic counselling before and after babies are born, Malherbe argues.  This should include screening and counselling for public and private sector moms over the age of 35, for women who have had miscarriages, and for those who already have children affected by a birth defects. 

Genetic screening and counselling after a baby is born may pick up issues not otherwise visible to the naked eye. Some birth defects only become obvious later in life, although they are present from birth. In cases like these, doctors need to quickly prescribe what are very often affordable and simple solutions to help babies develop just like any other infant.

Globally, access to these kinds of services — which also extend to social support and even corrective surgeries as in the case of cleft palettes — could prevent up to 70% of deaths and disabilities caused by birth defects, according to a 2006 Global Report on Birth Defects published by the March of Dimes Defects Foundation. 

And delays in treatment don’t only hurt children and families, they can also cost the healthcare system thousands. Caregivers of children with severe disabilities and chronic illnesses, including birth defects, cost the government R1-billion in grants each year between 1998 and 2012, according to a report by the department of women, children, and people with disabilities. 

“For every child who dies, many survive serious diseases and sustain lifelong mental and physical disabilities,” Malherbe wrote in a report for the South African Health Review in 2016.

She says: “South Africa has already passed the point at which other nations started developing genetic services to reduce child mortality further.” 

Shelley Macaulay is one of just a handful of genetic counsellors in South Africa. She manages genetic counselling at the National Health Laboratory Service (NHLS) and Wits.  Health workers such as herself and medical geneticists — or physicians trained to diagnose and treat patients with genetic disorders — are also crucial to helping families learn to care for children affected by birth defects, Macaulay says.  

She explains: “Genetic counsellors are trained to analyse and interpret genetic data. They can explain complex conditions and give families the tools they need to care for children born with these conditions.” 

In addition to a lack of counsellors, there are only 12 medical geneticists working in South Africa’s public sector, Malherbe warns. 

The lack of these kinds of specialists is a chronic condition in South Africa. With a dearth of trained specialists in the field, she says, there are too few to train large numbers of new students hoping to enter the field.

Malherbe says the country would still need to improve how it tracks cases. Once we know where babies with birth defects are, the country can begin to zone in on tailored solutions.

 “The only way we’re going to tackle child deaths in South Africa is if we start talking about birth defects.”

Joan van Dyk was a health journalist, senior health journalist and news editor at Bhekisisa between 2017 and 2023.