EC Paediatrics

Background: Newborn screening saves lives and can ensure better survivability, as it detects the disorders at the earliest and helps in preventing serious consequences that may arise in the future.

Objective: To present data on NBS from our tertiary centers along with the success of implementing therapy and follow up.

Methods: We retrospectively reviewed NBS data from January 2005 to May 2020 from three tertiary centers. The incidence of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), galactosemia, Glucose 6 phosphate dehydrogenase (G6PD) deficiency, amino acids/urea cycle disorder, fatty acid/organic acid disorder, cystic fibrosis, biotinidase deficiency, phenylketonuria (PKU) among neonates was recorded. We also report on their follow up to explain its implications.

Results: A total of 668,327 neonates were screened for fifty conditions. While hemoglobinopathies (1:70 of 28392 total screens) had the highest presumptive incidence followed by G6PD deficiency (1:280 of 98,052 total screens), phenylketonuria (1:16,408 of 57,675 total screens), followed by galactosemia (1:7188 of 933,318 total screens) and biotinidase deficiency (1:5440 of 63,598 total screens) had the lowest incidence. The incidence of CH and CAH was found to be 1:594 from 102,903 total screens and 1:4567 from 95,155 total screens, respectively. Metabolic conditions though individually rare, collectively accounted for significant numbers.

Conclusion: The current study highlights the incidence of several conditions including hemoglobinopathies, G6PD deficiency, congenital hypothyroidism (CH) and congenital adrenal hyperplasia over one and a half decades in a large pool of neonates. This study also demonstrates the feasibility of early testing of screen positive neonates and establishing a complete diagnosis and initiating therapy in the recommended time.

Keywords: Dried Blood Spot; Inborn Errors of Metabolism; Newborn Screening; Neonatal Disorder

1. El-Hattab AW., et al. “Newborn Screening: History, Current Status, and Future Directions”. Pediatric Clinics of North America 65 (2018): 389-305.
2. European Union Network of Experts on Newborn Screening. Newborn screening in Europe: Expert Opinion document (2020).
3. National Institute of Child Health and Development. How many newborns are screened in the United States? (2020).
4. Ojodu J., et al. “NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center”. International Journal of Neonatal Screening 4 (2017): 1-10.
5. New STEPs. Newborn Screening Status for All Disorders (2020).
6. Padilla CD and Therrell BL. “Newborn screening in the Asia Pacific region”. Journal of Inherited Metabolic Disease 30 (2007): 490-406.
7. Devi AR and Naushad SM. “Newborn Screening in India”. Indian Journal of Pediatrics 71 (2004): 157-160.
8. Mookken T. “Universal Implementation of Newborn Screening in India”. International Journal of Neonatal Screening 6 (2020): 24.
9. Kumar K., et al. “Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE”. Biology of the Neonate 3 (2014): 1000129.
10. Kishore Kumar R., et al. “Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?” The Journal of Obstetrics and Gynecology of India 66 (2016): 415-419.
11. Sanghvi U and Diwakar KK. “Universal newborn screening for congenital hypothyroidism”. Indian Pediatrics 45 (2008): 331-332.
12. Gopalakrishnan V., et al. “Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India”. Indian Pediatrics 51 (2014): 701-705.
13. ICMR Task Force on Inherited Metabolic Disorders. “Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia”. Indian Journal of Pediatrics 85 (2018): 935-940.
14. Kaur G., et al. “Current and future perspective of newborn screening: an Indian scenario”. Journal of Pediatric Endocrinology and Metabolism 29 (2016): 5-13.
15. Kommalur A., et al. “Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience”. Journal of Tropical Pediatrics 66 (2020): 284-289.
16. Sharma P., et al. “Prevalence of Inborn Errors of Metabolism in Neonates”. Journal of Clinical and Diagnostic Research 12 (2018): BC07-13.
17. Verma J., et al. “Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India”. The Journal of Pediatric Intensive Care 9 (2020): 40-44.
18. Jain DL., et al. “Newborn screening shows a high incidence of sickle cell anemia in Central India”. Hemoglobin 36 (2012): 316-322.
19. Upadhye DS., et al. “Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India”. PLoS One 11 (2016): e0147081.
20. NITI Aayog. Government of India (2020).
21. Godinho MA., et al. “Mapping Neonatal Mortality in India: A Closer Look”. Indian Journal of Community Medicine 42 (2017): 234-237.