Newborn screening: A way forward for a healthy nation
Keywords:
Newborn screening awareness, CAH, CH, G6PD deficiency, TMS, dried blood spot, NGS
Abstract
Newborn screening is a crucial public health initiative that enables the early detection of underlying genetic defects leading to metabolic, and congenital disorders in infants. By identifying these conditions shortly after birth, healthcare providers can implement timely interventions, significantly improving health outcomes and reducing long-term complications and national health burden. As a proactive approach, newborn screening not only benefits individual families but also contributes to healthier communities and reduces healthcare costs. To move forward towards a healthier nation, it is essential to expand and refine screening programs, increase public awareness, and ensure access to necessary treatments and support services for affected families. By prioritizing newborn screening, we invest in the well-being of future generations, laying the foundation for a healthier society.
References
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16. Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, et al. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. Hum Genomics.
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2. Bijarnia-Mahay S, Kapoor S. Testing Modalities for Inborn Errors of Metabolism - What a Clinician Needs to Know? Indian Pediatr. 2019 Sep 15;56(9):757–66.
3. Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, et al. Next-Generation Sequencing in Newborn Screening: A Review of Current State. Front Genet. 2021 May 26;12:662254.
4. Wilson JMG, Jungner G. The principles and practice of screening for disease. World Health Organization; 1968. Available from https://niercheck.nl/wp-content/uploads/2019/06/Wil-son-Jungner-1968.pdf
5. Lancet T. Genomic newborn screening: current concerns and challenges. The Lancet. 2023 Jul 22;402(10398):265.
6. Shah H. NEWBORN SCREENING. 2018 [cited 2024 Nov 5]; Available from: http://rgdoi.net/10.13140/RG.2.2.16516.22409
7. Radha Rama Devi A, Kadali S, Radhika A, Singh V, Kumar MA, Reddy GM, et al. Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene. J Pediatr Genet. 2019 Jun;8(2):81–5.
8. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006 May;117(5 Pt 2):S296-307.
9. Inauguration Nidan Kendras and UMMID Launch in DBT website | Department of Biotechnology [Internet]. [cited 2024 Oct 17]. Available from: https://dbtindia.gov.in/dbt-press/inauguration-nidan-kendras-and-ummid-launch-dbt-website
10. ICMR Task Force on Inherited Metabolic Disorders. New-born Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. Indian J Pediatr. 2018 Nov;85(11):935–40.
11. 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):440–7.
12. Sheth J, Nair A, Sheth F, Ajagekar M, Dhondekar T, Panigrahi I, et al. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre. Orphanet J Rare Dis. 2024 Aug 13;19(1):295.
13. Kapoor S, Thelma BK. Status of Newborn Screening and Inborn Errors of Metabolism in India. Indian J Pediatr. 2018 Dec;85(12):1110–7.
14. Nagaraja D, Mamatha SN, De T, Christopher R. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: Study in high-risk Indian population. Clin Biochem. 2010 Apr 1;43(6):581–8.
15. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 Sep;26(9):1392–7.
16. Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, et al. Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. Hum Genomics.
2024 May 10;18(1):46.
17. Final-National Policy for Rare Diseases-2021.pdf [Internet] [cited 2024 Nov 5]. Available from: https://rarediseases.mohfw.gov.in/uploads/Content/1624967837_Final-NPRD-2021.pdf.
Published
2024-12-12
How to Cite
Dr. Jayesh Sheth, Ms. Aadhira Nair, Ms. Shrutikaa Kale, Dr. Frenny Sheth, & Dr. Harsh Sheth. (2024). Newborn screening: A way forward for a healthy nation. The Indian Practitioner, 77(11), 11-15. Retrieved from https://articles.theindianpractitioner.com/index.php/tip/article/view/1814
Section
Special Article
