EC Paediatrics

Research Article Volume 11 Issue 8 - 2022

Experience of One and Half Decades of Newborn Screening in India

R Kishore Kumar1,2,3*, Akash Nevilebasappa4, Arvind Shenoi5, Nandini Nagar6 and Hari Das7

1Senior Consultant Neonatologist, Neonatology, Cloudnine Hospitals, Bangalore, Karnataka, India

2Adjunct Professor of Neonatology, Notre Dame University, Perth, Australia

3Visiting Consultant, Indira Gandhi Institute of Child Health, Bangalore, India

4Senior Biochemist, Acquity Labs, Bangalore, India

5Senior Neonatologist and Medical Director, India

6DNB, Consultant, Neonatologist, Cloudnine Hospitals, Bangalore, Karnataka, India

7DCP, Consultant Pathologist, Cloudnine Hospital, Jayanagar, Bangalore, India

*Corresponding Author: R Kishore Kumar, Senior Consultant Neonatologist, Neonatology, Cloudnine Hospitals, Bangalore, Karnataka, India.
Received: June 17,2022; Published: July 26, 2022

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

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R Kishore Kumar., et al. Experience of One and Half Decades of Newborn Screening in India. EC Paediatrics  11.8 (2022): 17-26.