Improving newborn screening in India: Disease gaps and quality control
The World Health Organisation (WHO) defines screening as “the presumptive identification of unrecognized disease in a healthy, asymptomatic population using tests, examinations or other procedures that can be applied rapidly and easily to the target population” [1]. India accounts for nearly one-fifth of the world’s annual childbirths, making screening programs need of hour to ensure a healthy outcome for every child born [2].
The first effort to screen newborns in India was made in 1980 in Bangalore, where 125,000 newborns were screened for various metabolic disorders [3]. This study revealed that metabolic disorders like hyperphenylalaninemia, tyrosinemia, glycinemia, and maple syrup urine disease (MSUD) are prevalent in the national population and are mainly responsible for mental retardation [3]. A multicentric study carried out by the Indian Council of Medical Research (ICMR) to determine causes of mental retardation, reported that metabolic defects were responsible for mental retardation in 65 patients out of 1314 patients screened [4]. A study conducted in Hyderabad screened 18,300 newborns for amino acid and metabolic disorders which revealed a high prevalence of congenital hypothyroidism followed by congenital adrenal hyperplasia and hyperhomocysteinemia as the leading diseases among this cohort [5].
As of 2023, the prevalence of inborn errors of metabolism (IEMs) is 48 per 10,000 live births in the country. The trend of the prevalence of IEMs in India is shown in Fig. 1. The high prevalence obtained in the year 2023 can be attributed to the fact that screening efforts have increased due to the vast spectrum of available tools and modalities for diagnostics as well as knowledge-enhancing platforms. It could also partly result from changes in the dynamic equilibrium of the human genome bringing about genetic alterations leading to a true increase in prevalence of the diseases under study
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