A tale of two photos: Why early screening for birth defects matters
Birth defects are physical or functional abnormalities present at birth. They include club foot (pictured), heart conditions, neural tube defects (such as spina bifida), Down syndrome, cleft lip/palate, limb reduction defects, and sickle cell disease.
What you need to know:
- Most birth defects are congenital, meaning they are caused by anomalies in our genetic make-up, and babies are born with them.
When two contrasting photos appeared on a PowerPoint slide during a side session at the recent International Maternal and Newborn Health Conference in Nairobi, they left delegates in awe and pity.
On one side was a poster of a young girl posing with a younger boy, captioned “Save Your Baby from Mental Retardation.” On the other side, the same girl, now grown, works as an engineer in the Philippines.
The session, organised by the World Health Organization, focused on screening for birth defects in low- and middle-income countries like Kenya.
Birth defects are physical or functional abnormalities present at birth. They include heart conditions, neural tube defects (such as spina bifida), Down syndrome, cleft lip/palate, limb reduction defects, club foot, and sickle cell disease.
Dr Carmencita Padilla, a scientist at the National Academy of Science and Technology in the Philippines, presented her country’s progress in newborn screening, diagnosis, and management of birth defects. The two photos illustrated a stark contrast: the girl, whose parents pursued early screening and intervention, grew up healthy; the boy did not.
The Philippines began screening for birth defects in 1996 with just six conditions. Today, it screens for 29, funded by the government. Kenya, in contrast, has only a sickle cell disease screening policy, launched in 2023, whose national rollout is still pending.
Dr Bernard Awuonda, a consultant paediatrician at Jaramogi Oginga Odinga University Teaching and Referral Hospital (JOOTRH), coordinates a sickle cell screening programme aimed at identifying affected babies at birth. He explained that screening differs from diagnosis. Unlike diagnosis where a clinician identifies a disease, screening is a test that notifies a clinician that someone has a condition, but they will need to confirm it.
Most birth defects are congenital, meaning they are caused by anomalies in our genetic make-up, and babies are born with them.
“Most are idiopathic, meaning they happen at random. Others stem from prenatal exposures: maternal drug or alcohol use, environmental toxins, heavy metals, radiation, or nutritional deficiencies like folic acid deficiency, which can lead to neural tube defects,” he explained.
The sickle cell screening programme at JOORTH was started and sponsored by the American Society of Hematology.
At the time, most children born with sickle cell disease did not survive past age five. The initiative set out to determine whether early screening and treatment could change that.
Now, just five years in, preliminary data shows positive outcomes. Dr Awuonda noted that newborns with sickle cell appear healthy for the first six months.
“Without treatment, complications emerge: swelling of the hands and feet, anaemia, frequent infections such as acute chest syndrome (a severe pneumonia unresponsive to conventional treatment), and organ failure, particularly of the spleen.”
Dr Awuonda noted that affordable early interventions such as folic acid for blood building and routine vaccines, including the pneumococcal booster, have helped babies live longer.
Uganda was the first East African country to mandate universal newborn screening for sickle cell disease. Dr Charles Kiyaga, who initiated the programme, told Nation: “When we started, we didn’t have funds for sickle cell screening. We leveraged HIV programmes to survey and understand the burden of the disease.”
He noted that even with limited funding, countries with a high burden of sickle cell disease should first establish their burden through data collection, which becomes a key advocacy tool. “Avoid siloed efforts in government. Whatever effort comes in should be through a national coordinated mechanism,” he said.
To win over Uganda’s parliament, his team presented a white paper with their data. “Some of them heard about that for the first time. Some didn’t think it was a disease, and others believed it was some spiritual thing or bad omen,” Dr Kiyaga said. After training sessions, the Health committee took it up and eventually procured drugs.
Partners have since joined, and Uganda now locally manufactures Hydroxyurea, a key sickle cell drug. Local production cut the cost from about UGX 2,000 (Sh 70) per capsule to UGX 500 (Sh 25).
“That is something people can afford. If it lessens the suffering, parents can try, especially when we have a shortfall in supply.”
He added that while government may lack funds, it has the power to create incentives: “If a local manufacturer comes in and they are given tax holidays, then they find the country conducive to invest in.” Uganda already has a technology company producing sickle cell screening kits.
Dr Kiyaga noted that although 20,000 children are born with sickle cell in Uganda every year, about eight in 10 were dying; that figure has now dropped to about five in 10 since new interventions were introduced. “We are hopeful that the number will go down,” he said.
At the side event, Dr Ayesha De Costa of the World Health Organization’s Department of Child and Adolescent Health, said countries yet to start screening can learn from those already doing so. Embedding newborn screening, diagnosis, and management into routine maternal newborn services is critical to reducing early childhood deaths, she added. “You do not have to start with screening of all birth defects. Just start with one.”
