Introduction: Newborn screening (NBS) aims towards early detection of genetic disorders which can be treated to reduce complications and mortality in early childhood.

From September 2017 through March 2020, 31,665 newborns were screened for seven diseases namely Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Glucose-6- Phosphate Dehydrogenase (G6PD) deficiency, Sickle Cell Disease, Biotinidase deficiency, Galactosemia and Phenylketonuria at various govt colleges across Ahmedabad over a period of 3 years under the Red Cross Society Pilot Project on Newborn Screening . The incidence and gender wise distribution was analysed while comparing it with the studies from other region. There is paucity of published studies in the newborn population screening from India. The current study can serve as a substantial source of data for the region and the nation.

Methods: Dried blood spots were taken from all stable newborns on 3^rd day of life and  processed on the principle of time-resolved Fluoroimmunoassay (Perkin Elmer GSP)

Name of statistical test: Chi-Square Test

Results & Conclusions: Around 4% of the population turned positive for any one of the diseases under screening. Sickle Cell Disease & Congenital Hypothyroidism were the most common (1.36% each). Biotinidase deficiency was the least common (0.18%).

Higher incidence of Congenital Hypothyroidism was observed compared to standard literature & other studies. Racial and geographical variations can attribute to the varying prevalence amongst disorders like Sickle Cell Disease & G6PD deficiency. The thresholds implied in screening are also an important determinant.

We recommend further studies and more robust screening of newborns with subsequent accessible confirmatory tests.

Keywords: Newborn Screening, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia etc.

1. M. G. Wilson, G. Jungner, A. L. Cochrane, W. W. Holland, T. G. Whitehead, Principles and Practice of Screening for Disease. Geneva: World Health Organisation. Chronic Illness in the United States. 27, 822–826 (1968). Available online: http://www.who.int/bulletin/volumes/86/4/07-050112BP.pdf
2. Nelson Textbook of PEDIATRICS (21^st), by R. Kliegman, B. Stanton, J. St. Geme, N. Schor (eds) : Elsevier, Philadelphia, 2020, IE ISBN: 978-0-323-56890-6  
3. Textbook of PediatricHematology and Hemato-Oncology (1^st ), by MR Lokeshwar(ed): Jaypee Brothers, Mumbai, 2016, ISBN: 978-93-5152-143-3
4. Kapoor, M. Kabra, Newborn screening in India: Current perspectives. Indian Pediatrics. 47(2010), pp. 219–224.
5. Verma et al., Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India. Journal of Pediatric Intensive Care. 09, 040–044 (2020).
6. Fechner PY. Benefits seen with newborn screening for CAH, but false-positives high. AAP News. March 2014
7. Kishore Kumar, R., Das, H. &Kini, P. Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?. J Obstet Gynecol India66, 415–419 (2016). https://doi.org/10.1007/s13224-015-0712-y
8. R. Prabhu, S. Mahadevan, S. Jagadeesh, S. Suresh, Congenital Hypothyroidism: Recent Indian data. Indian Journal of Endocrinology and Metabolism. 19(2015),  pp. 436–437.
9. Desai MP, Sharma R, Riaz I, Sudhanshu S, Parikh R, Bhatia V. Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis. Indian J Pediatr. 2018 Jun;85(6):440-447. doi: 10.1007/s12098-017-2575-y. Epub 2018 Jan 30. PMID: 29380252.
10. ICMR Task Force on Inherited Metabolic Disorders. Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. Indian J Pediatr. 2018 Nov;85(11):935-940. doi: 10.1007/s12098-018-2645-9. Epub 2018 Mar 17. PMID: 29549556.
11. Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, Randhawa G, Kaur A, Prasad R. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian J Pediatr. 2010 Sep;77(9):969-73. doi: 10.1007/s12098-010-0150-x. Epub 2010 Aug 27. PMID: 20799077.
12. Mukherjee MB, Colah RB, Martin S, Ghosh K. Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario. Indian J Med Res. 2015;141(5):516-520. doi:10.4103/0971-5916.159499

Dr Ashita Singhal

Junior Resident, Department of Paediatrics, BJ Medical College, Ahmedabad, India