PERINATOLOGY • Vol 24 • No. 1 • May–Aug 2023 • 11 Discussion NBS is a universally accepted standard procedure in many countries across the world. The latest CDC data show that about 12,500 neonates, each year, are diagnosed with at least one of the core conditions from the recommended uniform screening panel, which could have been possible only through NBS.6-8 Many Asian developing countries, including India, have also developed programs for increasing NBS coverage, although they still lack the government policies and support necessary for sustaining the same. Dr Appaji Rao and Dr Radha Rama Devi initiated NBS in India.9 The Chandigarh Program (screened for CH and G6PD deficiency), Kerala State NBS Program,10 and Goa State NBS Program managed by Dr Rohit Cariappa11 were among the many state-level NBS programs that were launched in 2007. CH, CAH, and G6PD deficiency were proposed to be included in the screening panel under NBS in India by the National Neonatology Forum in 2011. A pilot, multicenter NBS program was started by the Indian Council of Medical Research (ICMR) in 2008 to screen 100,000 neonates for CH and CAH in 5 major cities.12 The West Bengal and Gujarat governments approved beginning a sizable NBS program in 2009 and 2011, respectively.9 However, the challenges for successful implementation of NBS in India include insufficient knowledge among health care workers and parents and poor access to neonatal units for middle- and lower-class population, as NICUs are usually not a part of primary health care centers. Family members turn a blind eye to the benefits of NBS policies, which limits the chances of neonates being screened.13,14 Given the prevalence of the illnesses and the significant cost implications of universal screening in a developing nation like India, a feasible approach will be to categorize the disorders as mentioned in Table 3. While a single test can screen up to 62 metabolic and genetic diseases, plans to start the screening with a more straightforward and cost-effective approach must be encouraged. Hence, screening for 11 conditions including, CH, G6PD deficiency, CAH, CG, cystic fibrosis, phenylketonuria [PKU], biotidinase deficiency, and hemoglobinopathies such as thalassemia, sickle cell, and hemoglobin traits can be conveniently recommended in all newborns. According to Indian data, the incidence of CAH ranges from 1:2600 to 1:16,000 live births, and India has a higher incidence than western countries.14,15 Our study showed an incidence of 0.25% in 396 neonates. According to research conducted by the ICMR Task Committee in 2018, the overall prevalence of CAH was 1:5762, with significant geographical variances in India.12 The incidence of CH was 1:722 neonates.12 There are conflicting reports about the incidence of CH in India. In our study, the incidence was 1:396 neonates, whereas Desai et al16 found a prevalence of 1:2804 after Table 3. Categories of Disorders Category Features Category A (All Newborns) • Screening for CH and hearing • Phase-wise screening for CH and G6PD deficiency • G6PD deficiency screening in the northern states of India • Screening for sickle cell disease and other hemoglobinopathies should be done in highincidence and high-risk groups and ethnicities Category B (Extended Screening and for High-Risk Population) • Conducted in the high-risk population (consanguinity, previous children with unexplained intellectual disability, seizure disorder, previous unexplained sibling deaths, critically ill neonates, neonates/ children with symptoms/signs/investigations suggestive of IEM) as well as for all newborns, irrespective of the cost • Mandatory in all tertiary care facilities, accessible to patients who can afford an additional INR 2000 to 3000 (USD 25 to 37) • Phenylketonuria, homocystinuria, alkaptonuria, galactosemia, and sickle cell anemia and other hemoglobinopathies • Cystic fibrosis, biotinidase deficiency, maple syrup urine disease, medium-chain acyl-CoA dehydrogenase deficiency, tyrosinemia, and fatty acid oxidation defects CH, congenital hypothyroidism; G6PD, glucose-6-phosphate dehydrogenase; IEM, inborn errors of metabolism. Research Article Gupta T, et al. The Need for Mandatory Newborn Screening in India
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