From Detection to Treatment: The Birth Defect Care Challenge Facing Lower-Income Countries

A baby born with a treatable condition may face very different prospects depending on where the birth takes place. In many low- and middle-income countries, the challenge extends beyond detecting birth defects: families may struggle to obtain a confirmed diagnosis, timely treatment and support as their child grows. Strengthening newborn care means building those services together.

In "Strengthening Newborn Screening, Diagnosis and Management of Birth Defects in Low- and Middle-Income Countries: A Priority for WHO Member States," published in the International Journal of Neonatal Screening, Ayesha De Costa, Pablo Duran, Rajesh Khanna, Janet Kayita and Khalid Siddeeg examine how countries can build those links.

Drawing on World Health Organization (WHO) consultations and country experience, the authors argue that governments should plan screening as the beginning of care, rather than as a stand-alone test. Their proposal arrives as birth defects account for a growing share of child deaths in many low- and middle-income countries. It offers a practical question for countries considering expansion: what happens to a child after a condition is detected?

The child health challenge is changing

Globally, an estimated 3% to 6% of infants are born with serious birth defects, according to figures cited in the article. The authors report that more than 90% of children with serious birth defects are born in low- and middle-income countries, where access to timely diagnosis and care is often limited. Deaths tell only part of the story; undetected or untreated conditions can also affect a child's health and development for years.

Progress against infectious causes of child death has made congenital conditions more prominent in the remaining burden. The article cites estimates showing that birth defects' share of under-five deaths rose from about 1% to 4% in sub-Saharan Africa between 2000 and 2023, and from about 3% to 11% in South Asia. Those figures describe a relative share of deaths. They do not, on their own, show that the number of deaths caused by birth defects increased.

A 2024 World Health Assembly resolution called on countries to consider universal newborn screening and comprehensive care for children with birth defects. Turning that ambition into a service is more difficult than introducing a test. A programme must identify children, confirm results, explain them to families and connect those who need help to services they can reach and afford.

Screening needs a destination

The authors reject a narrow view of screening as blood spot testing alone. Depending on the condition, a newborn may be screened through a physical examination, a clinical test or a laboratory test. Whatever the method, early identification offers a benefit only when the next steps are available: diagnostic confirmation, treatment, rehabilitation and continuing support.

Those steps differ sharply by condition. A child with a structural heart defect may need specialist diagnosis, transport and surgery. Another child may need an accessible medicine and regular monitoring; one with a functional condition may need developmental services over many years. Expanding the list of conditions screened for without building those pathways risks giving families a result that the health system cannot act upon.

The article makes a case for starting with one condition or a small group for which effective care is feasible, then expanding as capacity grows. It points to Uganda's use of existing testing platforms for sickle cell disease, India's initial emphasis on visible conditions and simpler functional tests in one national programme, and the Philippines' gradual expansion beyond its first five metabolic and endocrine conditions. These are examples of different routes into screening, rather than evidence that one model can be copied wholesale.

The gaps between services can decide the outcome

A newborn's route to care may run through a community health worker, a primary clinic, a district hospital and a specialist centre. Each transfer creates a chance for delay or loss to follow-up. The authors therefore urge planners to examine the entire route before introducing population-wide screening for a condition, including the workforce, referral system, diagnostic capacity, treatment supply, financing and records needed to keep track of children.

Kerala's programme for congenital heart disease illustrates the breadth of that task. As described in the article, its approach links screening with confirmatory diagnosis, transport, specialist services and digital case management. The wider lesson is that a screening programme may expose shortages well beyond the place where the first test takes place. Addressing those shortages is part of making early detection useful.

Financing presents another test of continuity. The authors describe how the Philippines moved from user fees and grant support toward national insurance coverage as its newborn screening programme developed. Public coverage can reduce a barrier at the point of screening, but policymakers also need to consider what families pay for confirmation, travel, treatment and later visits. A child's care pathway can break even when the first test is free.

Expansion must be judged by care delivered

The communication grew out of five rounds of WHO technical consultations held from September 2024 to April 2025. Health ministry representatives from countries with established initiatives joined clinicians, researchers, civil society groups, affected people and families. Their discussions produced an implementation framework, not a clinical trial or a comparative estimate of how many deaths a particular screening strategy could prevent.

The country experiences show what governments have tried and where planning needs to reach; they do not prove that every approach will succeed elsewhere. Countries with established programmes may also have leadership, partners or specialist capacity that others lack. Local evidence on disease burden and service access remains essential when choosing what to screen for first.

The framework's strongest measure of ambition is more demanding than a rising screening rate. Health systems need to know how many children receive a confirmed diagnosis, begin appropriate care and remain connected to support as they grow. Records, sensitive communication with families and links to rehabilitation or disability services all affect whether that happens. For children and parents, the promise of early detection is fulfilled only when it opens a reliable route to care.