5 Common Birth Defects

One in 15 babies born in SA are affected by a birth defect, find out more.

03 March 2019
by Glynis Horning

March 3 is World Birth Defects Day – here we raise awareness of the causes and impact.


Cause: Can be genetic or a mistake during foetal development.

Prevalence rate: These are the most common birth defects, affecting 2 500 births a year or 1 in every 400. Of these, 250 are so serious they can be fatal in the first month without treatment, says Dr Helen Malherbe, chair of Genetic Alliance South Africa.

Effects: If undetected and untreated, they can be fatal, resulting in congestive heart failure.

Spot it: Baby has a rapid heartbeat, problems breathing and feeding, swollen legs and tummy (and sometimes eye-area), and a bluish tinge to the skin. “These defects aren’t always obvious without a proper examination and pulse oximetry test at birth (to check the level of oxygen in the blood),” says Dr Malherbe.

Treatment: Depending on the severity, it may include medication, surgery, or the fitting of a pacemaker or other mechanical aid.

Find out more: Heart Kids, www.heartkids.co.za


Cause: May be genetic or environmental.

Prevalence rate: 1 in 3 000 babies, with about 300 babies born every year with cleft lip or palate in South Africa.

Effects: Untreated, it can interfere with feeding and speech, and cause middle-ear infections (ears often won’t drain well).

Spot it: It can show as anything from a small notch in the top lip, to a severe cleft of the lip, floor of the nostril and dental arch. “It can be only a cleft palate, which is why a full newborn examination is required, as isolated cleft palates can be missed if the lip is unaffected,” says Dr Malherbe.

Treatment: Surgery; this is usually done before three months for a cleft lip, and between six and nine months for a cleft palate. Today there is minimal scarring.

Find out more: Cleft Friends (A project of Smile Foundation), www.cleftfriends.co.za


Cause: Chromosomal abnormality.

Prevalence rate: About 1 in 500 babies, with the risk increasing with the mother’s age (over 35), and around 2 000 babies are born in South Africa with Down syndrome every year.

Effects: Distinctive appearance, poor muscle tone, and often visual, hearing, heart and intestinal problems, as well as a degree of mental retardation.

Spot it: Slanting eyes, small ears that fold at the top, small mouth and nose with a flattened bridge, short neck and small hands with short fingers.

Treatment: Early treatment with therapists and special education teachers can help your child learn sensory, social, motor, language and other skills, so they do much what other children do, only later. “Heart defects and thyroid issues or other physical problems may require medical or surgical treatment,” says Dr Malherbe.

Find out more: Down Syndrome SA, www.downsyndrome.org.za


Cause: Generally a combination of hereditary and environmental factors.

Prevalence: About 1 in 500 babies are affected and around 2 000 babies are born in South Africa with isolated club foot every year.

Effects: Depending on the severity, problems with standing and walking.

Spot it: Deformity of the foot or ankle; it’s mostly painless, but can become noticeable once baby gets mobile.

Treatment: This ranges from encouraging the foot in the right direction with binding and exercises for mild cases, to plaster casts, special shoes or surgery, but preferably the Ponseti method – a manipulative technique that corrects congenital club foot without invasive surgery, says Dr Malherbe.

Find out more: Check out the STEP SA website https://steps.org.za/


Cause: Some of the bones that make up the baby’s spinal column don’t join together properly, leaving an opening in the spine, usually in the lower part of the back. Soft parts of the spinal cord may push through this – spinal nerves, fluid, meninges (membranes).

Prevalence: 1 in 1 000 babies are affected by spina bifida and other neural tube defects, with just over 900 babies being born affected every year in South Africa.

Effects: Because the spinal cord is damaged, messages from the brain don’t travel to the lower parts of the body, which results in loss of sensation, bladder and bowel control, and mobility problems of various degrees.

Spot it: Baby is born with an opening in his or her back.

Treatment: Spina bifida can be prevented in many cases by taking folic acid before pregnancy. Surgery is needed to close the opening. Depending on the severity, your child may later need walking and mobility aids such as braces, walkers or a wheelchair. But as with many birth defects, given encouragement and support, children with spina bifida can go on to live full and active lives.

Find out more: Association of Spina Bifida and Hydrocephalus South Africa, www.asbah-sa.org



IMAGE CREDIT: Getty Images