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Denying a child timely treatment for a condition that could lead to lifelong mental or physical disability is nothing short of a societal failure. Newborn screening (NBS) is every child’s birthright, a promise of early diagnosis and intervention for preventable conditions.

Take congenital hypothyroidism, a disease that can cause severe mental retardation if undetected – yet if caught within 72 hours of birth, it can be managed with tablets that cost just 15 paise each. With this simple, cost-effective treatment, a child can thrive, reach their full potential, and lead a normal life. It is time to recognize NBS not as a privilege but as a fundamental right for every newborn.

NBS is a public health program that helps identify serious developmental and genetic disorders in newborns through biochemical tests performed after birth. NBS usually includes physical exam (eyes, heart, hips, etc.), hearing screening, and blood spot test (heel prick). To detect diseases at a pre-symptomatic stage, a blood spot test is performed in which blood is collected from the baby’s heel, placed on a special absorbent paper, air-dried and then transported to the laboratory for screening.

Despite the fact that the NBS was supported by the WHO through it Resolution on congenital malformations in 2010, and institutionalized as a national program in the developed world, most developing countries, including India, have lagged behind in providing universal NBS services. The National Child Health Care Program – Rashtriya Bal Swasthya Karyakram recommends screening for diseases such as congenital hypothyroidism (CH), sickle cell anemia and beta-thalassemia as optional (exception being The NEEV mission in Delhi). However, only a few states and UTs: Goa, Chandigarh, Delhi, Kerala have implemented NBS so far.

One of the first trials of a large-scale pilot NBS was undertaken by the Indian Institute of Science (IISc), Bangalore, Karnataka for eight years from 1980–1988 to detect aminoacidemias. This study looked at nearly one lakh newborns using toe-prick blood samples in fifty hospitals and maternity homes in Bangalore and Mysore. They found a cumulative incidence of 1:847 of different types of aminoacidemias and further explored the links between consanguineous marriages and the occurrence of these diseases.Decades later we still find the prevalence of consanguineous marriages at 27% in Karnataka from NFHS Report-5 ().

Karnataka still lacks a public health program of the NBS, despite early initiation and high rates of institutional delivery at the public level. health facilities (64.8%)The idea of ​​NBS in the government sector remains limited to screening for physical deformities, vision and hearing tests. Health facilities and private laboratories offer commercial bloodstain services in NB, with fees ranging from INR 1500 to INR 6000 for NBS panels (from basic to comprehensive, covering over 50 disease conditions/parameters). It is important to extend free NBS services to all delivery points in public health facilities.

As one of the prerequisites for launching a statewide public health program, the absence of epidemiologic data on context-specific genetic conditions prevents the NBS from receiving the attention it truly deserves. Recent studies in state hospitals report varying levels of incidence of various genetic conditions. andThe incidence of IEM such as congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), G-6PD deficiency, galactosemia (GALT) and PKU was 1:2735, 1:4102, 1:414, 1:41027 and 1. :20513 respectively in a government hospital. Another study estimated the cumulative incidence rates of CH, CAH, G-6PDD, biotinidase deficiency and GALT in different hospitals of Udupi district will be 1:811, 1:2009, 1:932, 1:1475 and 1:1340 respectively.

The possibility of running a public program also depends on its financial viability. For this purpose, screening costs for a single disorder were calculated at $6.45, with screening for each additional disorder at $1.5 per child (using available incidence data). The US Centers for Disease Control has reported that the current lifetime costs of developmental disabilities that can be prevented by newborn screening range from $500,000 to $1 million.

Based on limited epidemiologic data and the context of prevalent consanguinity that perpetuates the risk of genetic disorders, the expansion of newborn blood spot screening in public facilities is the need of the hour. A comprehensive and coordinated state-run NBS must focus on the socio-economic distribution of the population in planning the expansion programme. Epidemiological surveys and appropriate NBS data management systems related to vital statistics are necessary for an evidence-based and context-appropriate screening program.

Current research efforts, largely in silos, have produced subsets of information on NBS pilots across the state. However, more such efforts should be encouraged to get a comprehensive picture Free/subsidized NBS will enable early diagnosis and treatment of genetic conditions in all newborns, including those from marginalized communities. It is also equally important to improve awareness: of NBS among the medical community; of the necessity and usefulness of screening. Improved parental knowledge is expected to contribute positively to follow-up and confirmatory assessments of children.

Karnataka has allocated 8.65% of total child-centred allocations for health and family welfare in the state’s child budget 2024-25, with a special focus on newborn screening for congenital deafness and treatment rare diseases during the current financial year. The state should take this further to implement a nationwide newborn blood spot screening program. Channeling budget allocations to NBS, building stronger research ecosystems and innovative multi-sectoral collaborations to operationalize NBS (private sector, communities), generating awareness among various stakeholders are major steps in the right direction towards achieving SDG 3 of reducing child mortality . Karnataka may have missed the bus in becoming a pioneering model of NBS, but it is still not too late to demonstrate a prototype for adoption in other states.

(Dr. Mohua Chakraborty Choudhury is a Scientist – Issac Center for Public Health – Indian Institute of Science (IISc), Bengaluru)