How it helps quickly identify and address potential health risks

Have you heard of “newborn screening,” a series of tests performed on newborns to identify potentially serious but treatable conditions? These pathologies are often undetectable at birth but can lead to significant health problems if left untreated. Prompt treatment of conditions identified through newborn screening can significantly improve a child's prognosis and prevent serious health problems. We spoke to our expert Dr Shreya Dubey, Consultant – Neonatology and Pediatrics, CK Birla Hospital, Gurgaon, who explained this screening and the important tests in screening programs.

What is newborn screening?

“A public health initiative known as “newborn screening” aims to detect specific genetic, metabolic and developmental abnormalities in infants shortly after birth. Early detection of these disorders allows for rapid diagnosis and treatment aimed at preventing or minimizing long-term health problems and developmental disorders,” said Dr. Dubey.

In many cases, the follow-up test returns normal results, indicating no underlying problems. However, if the second test suggests the presence of a health problem, your child's medical team will provide a detailed explanation of the results and outline the necessary steps to maintain their health.

According to a 2017 study, newborn screening, often called “baby's first test,” involves a simple procedure typically performed when infants are around two days old. A small prick is given to the baby's heel and a few drops of blood are collected on a filter paper card, either through voluntary or mandatory programs. These cards are then sent to a screening laboratory where they undergo testing for various disorders, including endocrine disorders, hemoglobin disorders, cystic fibrosis, and hereditary metabolic disorders (IMD).

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Key tests in newborn screening programs

Newborn screening programs typically include the following important tests, as listed by Dr. Dubey:

Blood tests

“Shortly after birth, the newborn's heel is used to collect blood samples, which are then examined for various metabolic and genetic abnormalities. Typical blood tests are: sickle cell anemia, hypothyroidism and phenylketonuria (PKU),” added Dr Dubey.

Hearing screening

Non-invasive tests such as auditory brainstem response (ABR) and otoacoustic emissions (OAE) are used to screen newborns for hearing loss. Early intervention is essential for the development of language and cognitive functions and is made possible by the early discovery of hearing loss.

Critical Congenital Heart Disease (CCHD) Screening

This screening uses a pulse oximeter to measure oxygen saturation levels in a newborn's blood. Low oxygen levels may be a sign of a congenital heart defect requiring further investigation and treatment.

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Screening for metabolic diseases

Depending on the particular screening program implemented in each region, newborn screening may also involve screening for various metabolic diseases in addition to the blood tests already discussed. These conditions could include maple syrup urinary disease, biotinidase deficiency and others.

According to a 2024 study, newborn screening has expanded significantly to encompass more than 60 disorders in current screening panels. It is important to understand that this screening serves as an initial screening tool and that individuals should not be diagnosed with a disorder until confirmatory diagnostic testing is performed. However, upon confirmation of a disorder, rapid initiation of treatment is crucial to prevent its clinical manifestation and associated complications.

The majority of newborns are born healthy and their screening tests generally do not reveal any abnormal health conditions. If your baby's test results show values ​​outside the normal range, this does not necessarily imply the presence of a health problem. The next step is to perform a second, more precise diagnostic test to confirm any potential problems.

Conclusion

Dr Dubey concluded: “Through newborn screening, these diseases can be identified early and treated to prevent major health problems, developmental delays and, in rare circumstances, even death. Parents should recognize the value of newborn screening and ensure that their child undergoes tests recommended by health professionals.

(Disclaimer: This article contains information provided by an expert and is for informational purposes only. Therefore, we advise you to consult your expert if you are facing any health problems to get the necessary treatment.)