The baby may look healthy. The disease often does not.

A newborn examination can tell us a great deal but it cannot identify every condition that may affect a child’s future.

This is the value of newborn screening (NBS): identifying selected conditions before clinical signs become apparent, when timely intervention can make a meaningful difference.

In Nigeria, newborn screening is strongly associated with sickle cell disease (SCD), and appropriately so. Early identification enables counselling, confirmatory testing, referral and timely preventive care. Nigeria’s national newborn-care guidelines recommend newborn screening for SCD, with confirmatory testing and early linkage to care.

But sickle cell screening does not answer every newborn screening question.

Consider congenital hypothyroidism (CH).

What else could we identify?

Many infants with CH appear clinically well at birth. The absence of obvious symptoms does not exclude the condition. Without screening, diagnosis may be delayed until developmental or other clinical features become evident.

This matters because congenital hypothyroidism is a potentially preventable cause of intellectual disability. The American Academy of Pediatrics recommends newborn screening for CH and emphasises that prompt diagnosis followed by appropriate treatment supports normal neurodevelopmental outcomes.

The clinical principle is simple: Do not wait for symptoms when an effective screening pathway can identify risk earlier.

Screening is not diagnosis

For paediatricians, this distinction is critical.

A newborn screening result is not a diagnosis. It identifies babies who require further evaluation. An effective NBS programme therefore needs four connected steps:

Screen → Recall → Confirm → Treat/Follow-up

For example, an abnormal CH screen should lead to timely confirmatory thyroid function testing and, when CH is confirmed, prompt treatment. AAP guidance recommends confirmatory testing as soon as possible and initiation of treatment without unnecessary delay.

This is why the strength of a newborn screening programme should not be measured only by the number of babies screened.

It should also be measured by what happens after an abnormal result.

Beyond Sickle Cell

Depending on the programme, technology, population needs and available follow-up capacity, newborn screening can include conditions such as:

• Sickle cell disease
• Congenital hypothyroidism
• Phenylketonuria (PKU)
• Other selected inherited metabolic disorders

PKU is another example where early identification matters. AAP resources highlight the importance of rapid diagnostic testing after a positive newborn screen and early metabolic management to improve developmental outcomes.

The conditions included in a screening panel should, however, be determined by evidence, disease burden, availability of reliable screening and confirmatory testing, treatment options, and the capacity to provide appropriate follow-up.

More screening is not automatically better screening.
The right screening programme is one that can complete the pathway from detection to care.

Why This Conversation Matters for Nigeria

It has been demonstrated that newborn screening in Nigeria can be implemented successfully in specific settings.

For example, a newborn SCD screening programme at Aminu Kano Teaching Hospital screened more than 7,500 infants between 2020 and 2023 and successfully linked identified infants to counselling and specialist care.

Recent Nigerian expert consensus has now moved the conversation further, proposing an integrated newborn screening approach, initially prioritising sickle cell disease and congenital hypothyroidism, with potential expansion as capacity develops.

This creates an important opportunity for paediatricians and healthcare institutions:

Can we move from screening individual conditions to building an integrated newborn screening pathway?

Can we move from screening individual conditions to building an integrated newborn screening pathway?

The Paediatrician’s Opportunity

Integrated NBS can provide clinicians with earlier information about conditions that may otherwise remain clinically silent during the newborn period.

For the paediatrician, this means the opportunity to:

• Identify earlier
• Confirm earlier
• Refer earlier
• Treat earlier
• Follow up appropriately

And ultimately, improve the child’s opportunity for healthy development.

The Future Is Integrated

At ISN Medical, we believe newborn screening should evolve from isolated testing toward an integrated approach that supports the complete clinical pathway—from sample collection and screening to confirmation, referral and follow-up.

The question is no longer simply: “Are we screening newborns?”

It is:

“Are we screening for the conditions we can identify early and are we prepared to act when we find them?”

Integrated Newborn Screening: Detect earlier. Act earlier. Give every baby a better start.