Published June 30, 2023
| Version v1
Journal
Open
Newborn Screening – Indian Perspective with Issues & Challenges
Creators
- 1. Ph.D., D.H.A., Medical Geneticist & Neuroscientist Metabolic & Molecular Division, Prof. & PG research Guide- Haffkine Institute, Research Director- MILS International India, Lab. Director- Navigene Genetic Science lab. Mumbai, India
Description
Newborn Screening (NBS) began in early 1960's by a pioneering work of Dr. Robert Guthrie, USA
with discovery of detecting Phenylketonuria (PKU) from dried blood spots (DBS) on filter
paper, by a simple test as bacterial inhibition assay (Guthrie, 1961). His research work led to
the now well-known 'Guthrie' card procedure/ test which is nothing but blood absorbed from
the baby's heel prick onto the special thick filter paper to screen PKU in the newborn.
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Additional details
Dates
- Accepted
-
2023-03-10
References
- 1. American Academy of Pediatrics (AAP); Newborn Screening Task Force: Serving the family from birth to themedical home-newborn screening: a blueprint for the future. Pediatrics (2000); 106: S383-S427. 2. American College of Medical Genetics (ACMG); Newborn Screening Expert Group: Newborn screening: toward a uniform screening panel and system. Genet Med (2006); 8: 1S- 252S. 3. Burgard P, Rupp K, Lindner M, et al: Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis. (2012); 35:613---25. 4. Chace D. H.; Millington, D. S.; et al: Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry, Clin. Chem. (1993); 39: 66—71. 5. Castiñeras DE, Couce ML, et al: Newborn screening for metabolic disorders in Spain and worldwide. Anales de Pediatría (English Edition). (2019); 91(2):128e-. 6. Dave U P: Genetic Counseling Approach in Inborn Errors of Metabolism. In "Genetic Counseling Clinical & Laboratory Approach", Eds. U Dave & D Shetty, Jaypee Brothers Medical Publishers, Chpt. 17, (2022); 219-234. 7. Dave U P: Screening and Diagnosis of Inborn Errors of Metabolism In "Principles and Practice of Fetal Medicine", Eds. R Sahetya, J Malhotra and H Purandarey, Jaypee Brothers Medical Publishers, (2016); Chpt. 15: 105-117.
- 8. Dave U., and Das B.R., Newborn screening-From 'Guthrie age to Genomic age', J. Obst. & Gynaecology of India, (2010); 60,3: 210–214. 9. Desai MP, Colaco MP, et al: Neonatal screening for congenital hypothyroidism in a developing country: problems and strategies. Indian J Ped. (1987); 54:571–81. 10. Groselj U, Tansek MZ, et al: Newborn screening in South Eastern Europe. Mol Genet Metab. 2014; 113:42---5. 11. Guthrie R: Blood screening for phenylketonuria. JAMA (1961); 178:863. 12. Health Resources and Service Administration (HRSA): RUSP; http://www.newbornscreening.info / (2018) 13. ICMR Multicentric Study: Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia and High Risk Screening of Infants. National Task Force for Inborn Errors of Metabolism. Draft Report. New Delhi: ICMR Multicentric Study: (2014). 14. Jalan AB, Kudalkar KV: Newborn screening: Need of the hour. Karnataka Ped. J (2021); 36(1):35-41. 15. Kishore KR, Ranieri E, et al: Newborn screening for congenital hyporthyroidism in India is overdue. J Neonatal Biol (2014); 3:129. 16. King JR, Hammarström L : Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J Clin. Immunol. (2017); 38(1):56-66. 17. Kommalur A, Devadas S, et al: Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience. J Trop Pediatr. (2020); 66(3):284-289 18. Kaur G, Srivastav J, etal: Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: A Chandigarh experience. Indian J Pediatr (2010); 77: 969–73. 19. Landau YE, Waisbren SE, et al: Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. (2017); 40(2):209-218. 20. Maiti A, Chatterjee S: Congenital adrenal hyperplasia: an Indian experience. J Paed Child Health (2011); 47:883–7. 21. Maya, C. State's Newborn Screening Program Wins Laurels—The Hindu, 4 July (2015) News/Cities/ Thiruvananthapuram. 22. Matsumoto I, Kuhara T: A new chemical diagnostic method for Inborn Errors of Metabolism by mass spectrometry Rapid, practical and simultaneous urinary metabolites analysis. Mass Spectrometry Reviews (1996); 15(1): 43-57. 23. Millington DS, Kodo N, et al: Tandem mass spectrometry: A new method for acyl carnitine profiling with potential for neonatal screening for inborn errors of metabolism. JIMD (1990); 13:321-4. 24. Mookken T: Universal implementation of newborn screening in India. International journal of neonatal screening. (2020); 6(2):24. 25. Nelson HD, Bougatsos C, et al: Universal newborn hearing screening: Systematic review to update the 2001 US preventive services task force recommendation. Pediatrics (2008); 122: 98921. 26. Padilla CD, Therrell BL.: Newborn screening in the Asia Pacific region. J Inherit Metab Dis (2007); 30:490-506. 27. Queiruga. G, Queijo. C: 25 Years of Newborn Screening in Uruguay (2011); 9: e20210008 28. Rama Devi AR, Naushad SM.: Newborn screening in India. Indian J Pediatr (2004); 71: 157–60. 29. Ramadevi AR, Rao NA: Neonatal Screening for Aminoacidemias in Karnataka, South India; Clinical Genetics. (1988);34: 60-63 30. Rashed, M. S.; Ozand, P. T. et al: Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr. Res. (1995); 38: 324 —331. 31. Ross LF: Newborn screening for lysosomal storage diseases: An ethical and policy analysis. JIMD (2012); 3:627-34
- 32. Shawky RM: Newborn screening in Middle East and North Africa- challenges and recommendations. Hamdan Med J. (2012); 5:191-2. 33. Tanaka K, Budd MA et al: Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. USA. (1966); 56:236–242 34. Therrell BL, Padilla CD, et al: Current status of newborn screening worldwide: 2015. Seminars in Perinatol (2015); 39:171-87. 35. Verma I C, Bijarnia-Mahay S, et al : Newborn screening: need of the hour in India. Indian J Pediatr (2015);82: 61–70. 36. Wilcken B, Haas M, et al: Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years. Pediatrics (2009); 124: e242-8. 37. Wilson J. M. G & Jungner G.: Principles and Practice of Screening for Disease, Eds. WHO Geneva. (1968). 38. Yamaguchi S: Newborn screening in Japan: restructuring for the new era. Ann Acad Med Singapore. (2008); 37, Suppl 12:13-5.