By Dr. Gautam Wankhede
Newborn screening (NBS) is a vital public health program that involves the testing of newborn infants for certain genetic, metabolic, and congenital disorders shortly after birth. It has emerged as an imperative requirement in today’s healthcare landscape. The early identification of conditions in newborns through newborn screening has demonstrated its instrumental role in preventing severe health complications and enhancing outcomes.
India has one of the highest infant mortality rates in the world. Though, prematurity & low birth weight, pneumonia and birth asphyxia are the leading causes of infant mortality, there are other genetic, metabolic, and congenital disorders that, if detected in time, can reduce morbidity and mortality in newborns.
According to data provided by Indian Paediatrics, in India, the prevalence of inborn errors of metabolism is 1 in 2,497 newborns (though prevalence may vary in different regions); the incidence of congenital hypothyroidism is 2.1 per 1,000; and G6PD deficiency is 2–7.8%. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and genetic disorders. In fact, in a recent study, it was shown that only 2% of cases detected by NBS had clinically severe outcomes compared to 42% of those detected clinically.
NBS was introduced in early 1960s in USA. Since then, many parts of the world such as U.S., Europe, CIS, China and many countries in the Asia Pacific have adopted newborn screening. The WHO has also issued guidelines and criteria for selecting disorders in NBS program. In India, NBS is not a mandatory test. Further, there is a significant lack of awareness about NBS among healthcare professionals and the people at large across India. In India, over 25 million babies are born every year. Several states such as Chandigarh, Kerala and Goa have launched NBS programs, yet, every year less than 1 million babies are screened for life-threatening disorders in India.
Early Detection and Intervention
The newborn screening test is usually performed between 48-72 hrs. A few drops of blood are taken from the baby’s heel on a special paper and sent to the screening laboratory for testing.
Newborn screening aims to identify rare but potentially severe conditions that may not be apparent at birth or in the early stages of development. These conditions include metabolic disorders, congenital hypothyroidism, cystic fibrosis, sickle cell disease, and many others. By identifying and addressing potential health conditions early in a child’s life, healthcare providers can prevent or mitigate the long-term effects of certain disorders. Certain conditions identified through newborn screening can cause irreversible damage if left untreated. For example, phenylketonuria (PKU) is a metabolic disorder that, if untreated, can lead to severe intellectual disability. However, with early diagnosis and dietary modifications, the harmful effects of PKU can be prevented, allowing affected children to lead normal lives. Delay or absence of diagnosis an Inborn Error of Metabolism (IEM) or other disorders detectable from birth, such as hypothyroidism, G6PD deficiency, may result in a significant mental decline in the affected babies. The unfortunate aspect is that most infants do not show any signs of these disorders at birth, even if they have the condition. New-born Screening allows these conditions to be detected at birth, allowing the child to potentially lead a normal and healthy life.
Expanding Screening Panels and Advances in Technology
Over the years, newborn screening has expanded to include an increasing number of conditions. Advances in technology and scientific research have allowed for the development of more comprehensive screening panels, enabling the identification of a wider range of disorders. As technology continues to evolve, the accuracy and scope of newborn screening will continue to improve, providing even greater opportunities for early detection and intervention.
Population Health and Public Health Planning
Newborn screening has a broader impact on population health and public health planning. By detecting and monitoring the prevalence of certain conditions within a population, public health authorities can allocate resources, plan interventions, and develop targeted prevention programs. The data collected through newborn screening contribute to epidemiological research and inform public health policies to improve the overall health of communities.
Conclusion
Newborn screening is a cornerstone of preventive healthcare, offering numerous benefits for infants, families, and society as a whole. Early detection of conditions through newborn screening allows for timely interventions, preventing irreversible damage and improving long-term health outcomes. All hospitals in India should initiate NBS at least for the common disorders CH, CAH, and G6PD, TSH deficiency etc. By investing in newborn screening programs, healthcare systems can ensure the early identification and management of potential health concerns, giving newborns the best possible start in life. An awareness programme directed towards its stakeholders is important in expediting the implementation of a newborn screening programme in India. Although universal screening is a cost-intensive program, the benefits outweigh the cost as it helps in reducing the mortality and morbidity in these diseases.
(The author is a Director of Medical Affairs, Mylab Discovery Solutions. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the FinancialExpress.com.)
