{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T11:12:08Z","timestamp":1770030728538,"version":"3.49.0"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T00:00:00Z","timestamp":1767312000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Neonatal screening has not been demanded by pediatricians nor parents in India because of limited resources, inadequate health information, early hospital discharges, a large rate of deliveries at home, and challenges with follow-up of results. This study was conducted based on the laboratory e-records from the Newborn Screening Unit, where Dried Blood Spot-based analysis was performed for G6PD deficiency, congenital adrenal hyperplasia, neonatal hypothyroidism, biotinidase deficiency, and galactosemia. The total study population comprised 3210 neonates. Overall, 329 children (10.2%) had some form of inherited disorder, and 12 (0.4%) suffered from two disorders concomitantly. The highest number of children were suffering from partial biotinidase deficiency (4.5%), followed by G6PD deficiency (2.7%). There was no significant difference in the levels of measured analytes in males and females, except for 17-OHP, which was significantly higher in males. Compared with females, males were more likely to have G6PD and biotinidase deficiency. Our study provides a snapshot of five inherited disorders previously unexamined by neonatal screening in Eastern India. We found a high prevalence of G6PD deficiency and other substantive neonatal conditions. Now that the significant prevalence of these disorders is known, stakeholders should work with policy-makers to institute national-level screening to determine their distribution in the broader population and address them in affected groups. Further studies are needed to identify effective implementation strategies, overcome financial and logistical barriers to an NBS program, and assess whether such a program can reach and benefit all communities, especially the most vulnerable.<\/jats:p>","DOI":"10.1093\/tropej\/fmag003","type":"journal-article","created":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T12:37:46Z","timestamp":1768048666000},"source":"Crossref","is-referenced-by-count":0,"title":["Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit"],"prefix":"10.1093","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1605-0761","authenticated-orcid":false,"given":"Gautom Kumar","family":"Saharia","sequence":"first","affiliation":[{"name":"Newborn Screening Unit, Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saurav","family":"Nayak","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manaswini","family":"Mangaraj","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tapas Kumar","family":"Som","sequence":"additional","affiliation":[{"name":"Department of Neonatology, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj Kumar","family":"Mohanty","sequence":"additional","affiliation":[{"name":"Department of Neonatology, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanushree","family":"Sahoo","sequence":"additional","affiliation":[{"name":"Department of Neonatology, All India Institute of Medical Sciences (AIIMS) , Bhubaneswar, Odisha 751019,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,1,30]]},"reference":[{"key":"2026020109471254600_fmag003-B1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cll.2012.04.006","article-title":"Inborn errors of metabolism and their status in India","volume":"32","author":"Dherai","year":"2012","journal-title":"Clin Lab Med"},{"key":"2026020109471254600_fmag003-B2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.3390\/ijns8020026","article-title":"Need and viability of newborn screening programme in India: report from a pilot 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The experience of a regional center in Italy","volume":"9","author":"Maguolo","year":"2021","journal-title":"Front Pediatr"},{"key":"2026020109471254600_fmag003-B12","doi-asserted-by":"crossref","first-page":"70","DOI":"10.3390\/ijns6030070","article-title":"CAH newborn screening in India: challenges and opportunities","volume":"6","author":"Dabas","year":"2020","journal-title":"Int J Neonatal Screen"},{"key":"2026020109471254600_fmag003-B13","doi-asserted-by":"crossref","first-page":"100040","DOI":"10.1016\/j.lansea.2022.100040","article-title":"Congenital hypothyroidism in India: a systematic review and meta-analysis of prevalence, screen positivity rates, and etiology","volume":"5","author":"Anne","year":"2022","journal-title":"Lancet Reg Health Southeast Asia"},{"key":"2026020109471254600_fmag003-B14","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1055\/s-0039-1677729","article-title":"Prevalence and genetic characterization of glucose-6-phosphate dehydrogenase deficiency in anemic subjects from Uttar Pradesh, India","volume":"8","author":"Tripathi","year":"2019","journal-title":"J Pediatr Genet"},{"key":"2026020109471254600_fmag003-B15","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1080\/03014460801961289","article-title":"Molecular variants of G6PD deficiency among certain tribal communities of Orissa, India","volume":"35","author":"Nishank","year":"2008","journal-title":"Ann Hum Biol"},{"key":"2026020109471254600_fmag003-B16","doi-asserted-by":"crossref","first-page":"277","DOI":"10.4103\/ijem.IJEM_640_17","article-title":"Congenital hypothyroidism screening in term neonates using umbilical cord blood TSH values","volume":"22","author":"Bhatia","year":"2018","journal-title":"Indian J Endocrinol Metab"},{"key":"2026020109471254600_fmag003-B17","doi-asserted-by":"crossref","first-page":"445","DOI":"10.4103\/ijem.ijem_314_22","article-title":"Etiological profile, targeted levothyroxine dosing and impact of partial newborn screening in congenital hypothyroidism\u2014a single centre experience","volume":"27","author":"Nagendra","year":"2023","journal-title":"Indian J Endocrinol Metab"},{"key":"2026020109471254600_fmag003-B18","first-page":"419","article-title":"Audit of care of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a referral hospital in South India","volume":"43","author":"Bhaskaran","year":"2006","journal-title":"Indian Pediatr"},{"key":"2026020109471254600_fmag003-B19","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/BF02265290","article-title":"Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"88","author":"Speiser","year":"1992","journal-title":"Hum Genet"},{"key":"2026020109471254600_fmag003-B20","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s13312-014-0485-x","article-title":"Newborn screening for congenital hypothyroidism, galactosemia, and biotinidase deficiency in Uttar Pradesh, India","volume":"51","author":"Gopalakrishnan","year":"2014","journal-title":"Indian Pediatr"},{"key":"2026020109471254600_fmag003-B21","first-page":"SC08","article-title":"Clinical, biochemical and outcome profile of biotinidase deficient patients from tertiary Centre in Northern India","volume":"9","author":"Singh","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"2026020109471254600_fmag003-B22","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s13312-016-0784-5","article-title":"Classical galactosemia among Indian children: presentation and outcome from a pediatric gastroenterology center","volume":"53","author":"Sarma","year":"2016","journal-title":"Indian Pediatr"}],"container-title":["Journal of Tropical Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/tropej\/article-pdf\/72\/1\/fmag003\/66679033\/fmag003.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/tropej\/article-pdf\/72\/1\/fmag003\/66679033\/fmag003.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T14:47:20Z","timestamp":1769957240000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/tropej\/article\/doi\/10.1093\/tropej\/fmag003\/8450448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,2]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,2]]}},"URL":"https:\/\/doi.org\/10.1093\/tropej\/fmag003","relation":{},"ISSN":["0142-6338","1465-3664"],"issn-type":[{"value":"0142-6338","type":"print"},{"value":"1465-3664","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,2]]},"published":{"date-parts":[[2026,1,2]]},"article-number":"fmag003"}}