‘In India, there are multiple challenges to implement a universal New Born Screening Program’.
NEW DELHI: Since 1971, India’s infant mortality rate has significantly decreased, although considerable work still has to be done to meet the sustainable development goal by 2030. The establishment of the mandated Newborn Screening programme is one such method. India lacks mandated newborn screening programmes, hence a large number of infants or newborns are born asymptomatically with genetic or unidentified birth abnormalities that eventually become life-threatening. Newborn Screening (NBS) is a program that examines newborns soon after birth for diseases that can be treated, but are not yet clinically obvious. Newborn Screening (NBS) has been successful in many developed countries, however, such a mandatory programme is difficult to be implemented in India at a high level. Chandigarh, Goa and Kerala have made an exception by launching Newborn Screening that looks for congenital hypothyroidism, CAH, Glucose 6 phosphate dehydrogenase deficiency and Galactosemia in newborns. Anand K, Chief Executive Officer, of SRL Diagnostics, told The Sunday Guardian, “In India, there are multiple challenges to implement a universal New Born Screening Program. Public Funding, policy level implementation, proper sample collection and quality testing are some aspects of a good New Born Screening Program.”
The child mortality rate has declined since 2014, according to the Sample Registration System (SRS) Statistical Report 2020, which was published on September 22, 2022. The report states that the Neonatal Mortality Rate (NMR) has decreased from 26 (2014) to 20 (2020) and the Infant Mortality Rate (IMR) has also decreased from 39 (2017) to 28 (2020). Under 5 Mortality Rate (U5MR), which measures the probability of dying before the age of five per 1,000 infants, has also gone down from 45 (2017) to 32 (2020). Uttar Pradesh and Karnataka have been the greatest example of U5MR.
Since 2014, the country has seen a steady decline in the infant mortality rate (IMR), the under-five mortality rate (U5MR), and the neo-mortality rate (NMR) in order to meet the Sustainable Development Goals (SDG) targets by 2030. However, at present, there has been no plan for the development of universal newborn screening units in India. Challenges such as infrastructure, bureaucracy, training, sample collection, and so on are needed to be resolved. Also, most stakeholders believe that the NBS programme is similar to regular laboratory testing.
Today, one in 2,497 newborns have an inborn metabolic defect, one in 1,000 have congenital hypothyroidism, and 2% to 8% have G6PD deficiency. Speaking more about undiagnosed birth problems among infants, Dr Sumit Chakravarty, Sr. Consultant, Paediatrics & Neonatology & Head, NICU, Asian Hospital, told this paper, “Inborn error of metabolism (phenylketonuria), Hematological disorders (G-6-P deficiency), Endocrinology (Neonatal hypothyroidism) remain undiagnosed during infancy that may develop into something serious in later life. They are easily picked up by simple blood tests. Laboratory services should be equipped in each district so that every child can be screened for these illnesses.”
As per the World Health Organisation, the majority of neonatal deaths in 2019 were due to preterm delivery, difficulties connected to labour (such as birth asphyxia or lack of breathing at birth), infections, and birth abnormalities.
Additionally, from the end of the neonatal period through the first five years after birth, pneumonia, diarrhoea, birth abnormalities, and malaria are the leading causes of death. More lives will be saved if birth defects are caught early because many diseases and birth defects if left untreated, can impede growth and harm the brain or nervous system for the rest of the life.
“In India, even something as simple as congenital hypothyroidism is not screened as a practice in newborns.
There is also limited public awareness in India about the need to test apparently healthy newborns for life-endangering congenital disorders like CAH. A basic Newborn Screening Policy should be made mandatory across all private and public healthcare units. There is very little data at the moment to conclude that a universal NBS program would bring down Infant Mortality Rate. This picture will emerge only after a period of implementation with accurate data recording, monitoring and follow-up. We have a long way to go,” Anand K said.