Newborn screening: Why it is needed and what we must know

Newborns and their parents can benefit from a government-sponsored newborn screening programme in Chennai and across Tamil Nadu.

A national newborn screening programme, as part of the health policy, is not yet a reality in India, even though such an initiative can help in the early detection of metabolic and genetic disorders. A universal screening programme initiated by the government can go a long way in the prevention of life-threatening illnesses in children, especially in this country, where the incidence of prematurity and low birth weight is quite high. However, newborn screening is available in many private hospitals and it is important for parents to be aware and ask for these tests for their newborn.

To mark International Neonatal Screening Day (June 28), here are some frequently asked questions (FAQs) and their answers, so that parents can make an informed decision about the health of their little one.

Dr Earnest James is advocating for a newborn screening programme in Tamil Nadu that is accessible to all. Pic courtesy: Author

Identifying birth defects

What is newborn/neonatal screening and why is it done? 

Newborn screening is a crucial healthcare procedure performed on all babies shortly after birth, regardless of whether they appear healthy or show clinical signs such as uncontrolled seizures, weight loss and unusual odours in sweat or urine. The primary goal of newborn screening is to detect early and manage specific genetic and metabolic conditions before symptoms appear.

This proactive approach helps prevent severe consequences like intellectual disabilities, chronic physical impairments, or even early death. In simple terms, newborn screening acts as a safety net, identifying potential health issues in babies before they become sick.

Read more: Baby on the way? Here is how you can register your pregnancy in Chennai

What tests are conducted as part of the screening? Why should we prefer to screen for an expanded list of disorders? Please explain. 

Newborn screening tests encompass three main categories: hearing tests for congenital hearing loss, pulse oximetry tests for congenital heart defects, and blood tests (heel prick), which can detect around 60 genetic and metabolic conditions.

In most hospitals, hearing and pulse oximetry tests are performed universally before discharge. Leading hospitals often include a small-scale universal blood test screening for disorders such as cystic fibrosis, congenital adrenal hyperplasia, congenital hypothyroidism, G6PD deficiency, galactosemia, and biotinidase deficiency, using cost-effective techniques like fluorimetry and immune assays.

Some hospitals offer expanded screening for 64 disorders of the RUSP panel, detected using advanced methods like Tandem Mass Spectrometry. The RUSP — Recommended Uniform Screening Panel — is a list of conditions the U.S. Department of Health recommends for newborn screening, ensuring early detection and improved health outcomes for infants. The expanded list of disorders includes defects in breaking down sugar, fat and amino acids and also accumulation of toxic organic acids.

Timely intervention

When should the newborn blood test screening be done (time frame)?

Typically, a heel-prick is used to collect the baby’s blood on special filter paper around 24-48 hours after birth, once the baby has received breast milk or formula, to ensure an accurate interpretation of results. Most of the inherited metabolic disorders are not apparent early.

Depending on the severity of the genetic defect, presentation time can vary and manifest after an initial period of apparent good health, ranging from hours to weeks following an uncomplicated pregnancy. Even mild genetic defects can manifest badly after many years in case of any environmental trigger such as a specific type of food or infections or stress.

Role of parents

What must parents do before and after the newborn screening? What are the next steps once the test results are out?    

First, parents should determine if there is any kind of universal screening test available at the hospital where their baby is born. It is preferred they proactively opt for an expanded newborn screening test regardless of the baby’s condition. Second, consult with a paediatrician or genetic counsellor for recommendations based on family history or ethnic background. Third, ensure the baby undergoes screening, including heel-prick tests, within the first 24 to 48 hours after birth.

Once the screening results are available, follow up with the physician if any presumptive positives or abnormal results are noted. Confirm any screened conditions with further biochemical or genetic tests. Additionally, stay vigilant for any symptoms or changes in your baby’s health and report them to your doctor promptly.

Who covers the cost?

Cost is a significant factor in newborn screening. The expense can vary based on insurance coverage, whether government-sponsored or private. Commercially, expanded newborn screening tests can range from Rs. 2,000–4,000, making them costly for many families. Kerala provides a good example with its free newborn screening programme, highlighting the need for government-sponsored universal screening initiatives.

Here is an informative video to explain why every newborn should get the benefit of an early screening programme:

Importance of universal neonatal screening

In most parts of India, newborn screening is not part of the public health system. Tests are usually done if doctors suspect an anomaly in the newborn. Why it is important to roll out universal neonatal screening? What can governments do to ensure this? 

Three reasons. First, most of the inherited metabolic disorders are completely normal at birth but can rapidly deteriorate due to environmental stress, food, and other factors. So, the ideal option is to screen all babies, to prevent severe complications, especially mental retardation and long-term disabilities due to rare genetic defects.

Secondly, it is cost-effective, as early intervention reduces long-term healthcare expenses compared to treating advanced diseases. Thirdly, universal screening ensures equity by providing all newborns, regardless of socio-economic status or location, equal access to early detection and treatment, reducing health disparities.

Read more: Delays plague maternity scheme: Expectant mothers in Chennai left in limbo

Effective implementation of universal newborn screening in the state requires government support to establish centralised labs and manage the process, similar to vaccination programmes, and data from these programmes can inform better healthcare policies and resource allocation.

Learning from successful programmes

Taking lessons from Kerala (or any other model), could you elaborate how a successful screening programme can be adopted in hospitals in Chennai and across Tamil Nadu?    

The Kerala government initiated a universal newborn screening programme called Shalabam, which screens for about three to six genetic disorders. The government has established centralised labs, coordinates sample collection from various government hospitals, and reports results via a mobile app. While it covers a limited set of disorders, Shalabam serves as a valuable model for setting up comprehensive screening systems.

In Tamil Nadu, despite a lower premature death rate than the national average, 13% of babies born in 2021-2022 were underweight, suggesting possible metabolic issues and future health complications. Globally, neonatal conditions and birth defects are the leading causes of disability-adjusted life years (DALYs), surpassing diseases like measles and tuberculosis.

Birth defects in South Asia have risen from 4% to 11% over the past two decades. Recently, the Indian Council of Medical Research conducted a pilot study on newborn screening for Congenital Hypothyroidism in Delhi, Chennai, Mumbai, Hyderabad and Kolkata.

Surprisingly, Chennai recorded the highest prevalence with 1 in 727 live births affected, showing a need for comprehensive newborn screening programmes in Tamil Nadu. Implementing universal newborn screening in Tamil Nadu, especially including an expanded list of disorders can significantly reduce DALYs by enabling early treatment and improving long-term health outcomes.

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