8 • PERINATOLOGY Vol 24 • No. 1 • May–Aug 2023 Research Article Gupta T, et al. The Need for Mandatory Newborn Screening in India epidemiologic data gathered from this initiative can be used for further research. Key Words: Newborn screening, congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase deficiency, classical galactosemia, metabolic diseases Introduction Newborn screening (NBS) is a minimally invasive, accurate, and efficient method that can help identify multiple presymptomatic metabolic disorders. It also helps gather knowledge about many rare diseases and prevent permanent disability that occurs due to undiagnosed or late-diagnosed disorders. NBS can be an effective reproductive and family planning tool. Although both parents have inborn errors of metabolism (IEM), both should not have the same metabolic disease, and if they do, prenatal screening and strict vigilance are necessary to prevent them from bearing a child affected severely with a genetic metabolic disease. Also, if a couple already has an affected child, they must undergo screening and prenatal testing in future pregnancies. The screening requires dried blood spots, developed from the blood sample collected through a heel prick.1 As a standard procedure, NBS has gained universal acceptance and has been deemed mandatory in many developed countries (eg, countries in North America and Europe).2 The Advisory Committee on Heritable Disorders in Newborns and Children recommends a uniform screening panel that is inclusive of 34 primary disorders and 26 secondary disorders.3 Though NBS has become an essential part of the health care system in many developed countries, India is still developing frameworks and infrastructure for making it an integral part of the childbirth services offered across the country. NBS, though available in India, is not mandatory. Some hospitals and laboratories list the disorders that are not standardized in the screening panel. The cost and number of conditions screened vary from laboratory to laboratory and city to city. Low-resource settings such as small cities, villages, and government colleges do not offer NBS because of the paucity of resources and time to counsel parents about the screening process and its advantages.4 Aim To find the prevalence of 4 commonly occurring IEM—congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase (G6PD) deficiency, and classical galactosemia (CG)—in neonates Materials and Methods Study design This retrospective study was conducted at Udyaan Health Care Hospital (Lucknow, Uttar Pradesh, India). Data were aggregated from electronic health records of deliveries conducted from October 2018 to December 2021 (38 months). The institutional review board granted ethical clearance to conduct this study. Inclusion and exclusion criteria Neonates, aged up to 28 days, whose parents willingly provided their verbal consent were included in the study after being informed of the procedure prior to making any payments for the tests. Neonates of unwilling parents were excluded from the study. The WHO has issued guidelines and criteria for selecting disorders to include under the NBS program. Wilson and Jungner, in 1968, outlined the selection criteria for disorders to be included under the NBS program, which are as follows5: 1. The condition should be an important health problem.
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