Newborn screening as a national health care programme

In India, as reported by Indian Paediatrics, the prevalence of inborn errors of metabolism stands at 1 in 2,497 newborns (with regional variations), congenital hypothyroidism at 2.1 per 1,000, and G6PD deficiency at 2–7.8%. If health issues like these are left undiagnosed and untreated can lead to long-term consequences such as mental retardation, learning disabilities, autism, dyslexia, behavioural issues, and scholastic setbacks. The financial and emotional burden on parents managing such conditions is substantial. Establishing a nationwide NBS programme emerges as the most rational and cost-effective strategy for preventing these tragedies. A recent study showed that only 2% of cases detected by NBS resulted in severe clinical outcomes, in contrast to 42% of those identified through clinical means.

The inception of NBS dates back to the early 1960s in the United States (US), and since then, numerous regions worldwide, including the US, Europe, the Commonwealth of Independent States (CIS), China, and many Asia-Pacific countries, have adopted NBS. The World Health Organization (WHO) has issued guidelines and criteria for selecting disorders for inclusion in NBS programmes.

In India, NBS is not mandatory, and there exists a significant lack of awareness about NBS among healthcare professionals and the general population. Despite over 25 million births annually, fewer than 1 million babies undergo screening for life-threatening disorders in India. This is alarming, especially considering India’s high infant mortality rate. While prematurity, low birth weight, pneumonia, and birth asphyxia are leading causes of infant mortality, timely detection of genetic, metabolic, and congenital disorders can significantly reduce morbidity, healthcare burden and mortality among newborns.

To address these challenges, raising awareness about NBS and implementing a comprehensive NBS programme across India is imperative. This will not only save lives but also alleviate the physical, emotional, and financial burdens faced by families grappling with undiagnosed conditions in their newborns. We must understand why newborn screening should be a part of a national healthcare initiative and how it can alleviate the healthcare burden by preventing long-term health issues and reducing treatment costs.

One of the primary reasons why newborn screening should be a national healthcare programme is its ability to detect health issues in infants at a very early stage. The newborn screening test is typically conducted within 48 to 72 hours after birth. A few drops of blood are collected from the baby’s heel onto specialised paper, which is then sent to a screening laboratory for analysis. Many serious conditions, such as cystic fibrosis, congenital heart defects, and metabolic disorders, may not present noticeable symptoms immediately after birth. However, early detection through newborn screening allows healthcare providers to initiate interventions promptly, potentially preventing or minimising the severity of these conditions. This proactive approach reduces the need for extensive treatments and surgeries later in life.

By identifying health issues in newborns early on, newborn screening can help prevent disabilities and chronic conditions that can result from untreated or late-diagnosed diseases.

Newborn screening not only saves lives but also significantly reduces healthcare costs in the long run. Detecting and treating health issues in infancy is often more cost-effective than managing the consequences of delayed diagnosis and treatment. For instance, treating a child with phenylketonuria (PKU) through a special diet from infancy is far less expensive than addressing developmental delays, intellectual disabilities, and other complications that can result from untreated PKU.

By addressing health issues promptly, children can experience better physical, cognitive, and emotional development. This, in turn, leads to improved educational outcomes, increased independence, and a higher overall quality of life for both the child and their caregivers.

A national newborn screening programme ensures that all newborns, regardless of their socioeconomic status or geographical location, have equal access to these critical tests. By making newborn screening universally available, we can promote health equity and reduce the long-term societal costs associated with untreated conditions.

This article is authored by Chandra Ganjoo, group CEO, Trivitron Healthcare.

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