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Newborn Screening: Need of the Hour in India

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Abstract

After a review of the current health scene in India, the authors suggest that the Government of India should consider seriously, the introduction of new born screening. As a first step, a central advisory committee should be constituted to recommend what is required to be done to strengthen the infrastructure and the manpower to carry out new born screening, and the disorders to be screened. In the urban hospitals newborn screening (NBS) for three disorders can be easily introduced (congenital hypothyroidism, congenital adrenal hyperplasia and G-6-PD deficiency), while in the rural areas this should begin with congenital hypothyroidism, especially in the sub Himalayan areas. Concurrently, logistic issues regarding diets and special therapies for inborn errors of metabolism should be sorted out, laboratories to confirm the diagnosis should be set up, and a cadre of metabolic physicians should be build up to treat those identified to have inborn errors of metabolism. Once these are established on a firm footing, tandem mass spectrometry should be introduced as it allows the identification of a number of disorders in an affordable manner. The recent improvements and current trends in health care in India have created the necessary infrastructure for adopting NBS for the benefit of infants in India.

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References

  1. Ten great public health achievements—United States, 2001–2010. MMWR. 2011;60:619–23.

  2. Padilla CD, Krotoski D, Therrell Jr BL. Newborn screening progress in developing countries–overcoming internal barriers. Semin Perinatol. 2010;34:145–55. doi:10.1053/j.semperi.2009.12.007.

    Article  PubMed  Google Scholar 

  3. Boyle CA, Bocchini Jr JA, Kelly J. Reflections on 50 years of newborn screening. Pediatrics. 2014;133:961–3.

    Article  PubMed  Google Scholar 

  4. Wilson JMG, Jungner G. Principles and practice of screening for disease. World Health Organization Public Health Papers, No. 34; 1968. http://whqlibdoc.who.int /php/ WHO_PHP_34.pdf. Accessed on September 28, 2014.

  5. Andermann A, Blancquaert I, Beauchamp S, Déry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ. 2008;86:317–9.

    Article  PubMed Central  PubMed  Google Scholar 

  6. Guthrie R. The origin of newborn screening. Screening. 1992;1:5–15.

    Article  CAS  PubMed  Google Scholar 

  7. Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, et al. Implementing routine testing for severe combined immunodeficiency within Wisconsin’s newborn screening program. Public Health Rep. 2010;125:S88–95.

    Google Scholar 

  8. Hoffmann GF, Lindner M, Loeber JG. 50 years of newborn screening. J Inherit Metab Dis. 2014;37:163–4.

    Article  PubMed  Google Scholar 

  9. Secretary’s advisory committee on heritable disorders in newborns and children. Annual report. 2013; p 16.

  10. CDC Grand Rounds. Newborn screening and improved outcomes. MMWR. 2012;61:390–3.

    Google Scholar 

  11. Bonham JR. Expanded newborn screening—progress into practice. Clin Biochem. 2014;47:697–8.

    Article  CAS  PubMed  Google Scholar 

  12. Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis. 2012;35:603–11.

    Article  PubMed  Google Scholar 

  13. Kitagawa T. Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening. Pediatr Endocrinol Rev. 2012;10:S8–25.

    Google Scholar 

  14. Minamitani K, Inomata H. Neonatal screening for congenital hypothyroidism in Japan. Pediatr Endocrinol Rev. 2012;10:S79–88.

    Google Scholar 

  15. Morikawa S, Nakamura A, Fujikura K, Fukushi M, Hotsubo T, Miyata J, et al. Results from 28 years of newborn screening for congenital adrenal hyperplasia in Sapporo. Clin Pediatr Endocrinol. 2014;23:35–43. doi:10.1297/cpe.23.35. Epub 2014 Apr 20.

    Article  PubMed Central  PubMed  Google Scholar 

  16. Leão LL, de Aguiar MJB. Newborn screening: what pediatricians should know. J Pediatr (Rio J). 2008;84:S80–90.

    Article  Google Scholar 

  17. Bennett MJ. Newborn screening for metabolic diseases: saving children’s lives and improving outcomes. Clin Biochem. 2014;47:693–4.

    Article  PubMed  Google Scholar 

  18. Kochupillai N, Pandav CS, Godbole MM, Mehta M, Ahuja MMS. Iodine deficiency and neonatal hypothyroidism. Bull World Health Organ. 1986;64:547–51.

    CAS  PubMed Central  PubMed  Google Scholar 

  19. Rao NA, Devi ARR, Savithri HS, Rao SV, Bittles AH. Neonatal screening for amino acidaemias in Karnataka, South India. Clin Genet. 1988;34:60–3.

  20. Verma M, Singla D, Crowell SB. G6PD deficiency in neonates: a prospective study. Indian J Pediatr. 1990;57:385–8.

    Article  CAS  PubMed  Google Scholar 

  21. Desai MP, Upadhye P, Colaco MP, Mehre M, Naik SP, Vaz FE, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.

    CAS  PubMed  Google Scholar 

  22. Rama Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr. 2004;71:157–60.

    Article  PubMed  Google Scholar 

  23. Pao M, Kulkarni A, Gupta V, Kaul S, Balan S. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency. Indian J Pediatr. 2005;72:835–7.

    Article  PubMed  Google Scholar 

  24. Dash S, Chhanhimi L, Chhakchhuak L, Zomawaia E. Screening for haemoglobinopathies and G6PD deficiency among the Mizos of Mizoram: a preliminary study. Indian J Pathol Microbiol. 2005;48:17–8.

    PubMed  Google Scholar 

  25. Sanghvi U, Diwakar KK. Universal newborn screening for congenital hypothyroidism. Indian Pediatr. 2008;45:331–2.

    PubMed  Google Scholar 

  26. Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, et al. 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.

    Article  PubMed  Google Scholar 

  27. Mohanty MD, Dash DK, Rath B. New born screening for glucose-6-phosphate dehydrogenase deficiency in Orissa, IMS and SUM hospital: a quantitative assay. Experiment. 2014;22:1525–30.

    Google Scholar 

  28. Kumar KR, Ranieri E, Fletcher J. Newborn screening for congenital hypothyroidism in India is overdue. J Neonatal Biol. 2014;3:129.

    Article  Google Scholar 

  29. Kapil U, Jain V, Kabra M, Pandey RM, Sareen N, Khenduja P. Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh. Eur J Clin Nutr. 2014;68:748–9.

    Article  CAS  PubMed  Google Scholar 

  30. Shriram V, Shriraam M, Anitharani M, Selvavinayagam, Sathiyasekaran BWC. National health programs in the field of endocrinology and metabolism–Miles to go. Indian J Endocrinol Metab. 2014;18:7–12.

    Article  Google Scholar 

  31. ICMR multicentric study: newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia and high risk screening of infants. National task force of inborn metabolic disorders. Draft report. 2014.

  32. Dave UP, Ranjan DB. Newborn screening–from Guthrie age to genomic age. J Obstet Gynaecol India. 2010;60:210–20.

    Article  Google Scholar 

  33. Kumar RK, Nagar N, Ranieri E. Newborn screening for G6PD deficiency- why is it important for India? Indian J Pediatr. 2014;81:90–1.

    Article  Google Scholar 

  34. Watchko JF, Kaplan M, Stark AR, Stevenson DK, Bhutani VK. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States? J Perinatol. 2013;33:499–504. doi:10.1038/jp.2013.14. Epub 2013 Feb 21.

    Article  CAS  PubMed  Google Scholar 

  35. Sample registration system. Registrar general, Government of India. SRS Bulletin. 2013;48: no. 2.

  36. Rashtriya Bal Swasthya Karyakram. National rural health mission. Government of India. 2014. http://www.nrhm.gov.in/image/pdf/programmes/RBSK/For_more_information.pdf. Accessed on 14 October 2014.

  37. Mooken T, Cariappa R. IEM incidence rates in Goa (final rev 3)–June 2008 to June 2013. Bangalore: Neogen Labs; 2014.

    Google Scholar 

  38. Goa to discontinue newborn baby screening program. Hindustan Times. Panaji, Goa. July 31, 2012.

  39. Golbahar J, Altayab DD, Carreon E. Short-term stability of amino acids and acylcarnitines in the dried blood spots used to screen newborns for metabolic disorders. J Med Screen. 2014;21:5–9.

    Article  CAS  PubMed  Google Scholar 

  40. Mathai S. A tale of contrasts. CAPE News. 2009;13:1–3.

    Google Scholar 

  41. Gambhir P. Cord blood TSH for screening of hypothyroidism: is it justified? Indian Pediatr. 2014;51:503.

    PubMed  Google Scholar 

  42. Laboratory quality assurance and standardization programs. centers for disease control and prevention. http://www.cdc.gov/labstandards/nsqap.html.

  43. ACMG ACT sheets and confirmatory algorithms. American College Medical Genetics 2001. http://www.ncbi.nlm.nih.gov /books/NBK55829/.

  44. Bijarnia S, Wilcken B, Veronica C, Wiley VC. Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. J Inherit Metab Dis. 2011;34:827–33.

    Article  PubMed  Google Scholar 

  45. NNF clinical practice guidelines. Newborn screening. Summary of recommendations. Available at www.nnfpublication.org. Accessed on June 2014; p. 289.

  46. Morton CC, Nance WE. Newborn hearing screening—a silent revolution New Engl. J Med. 2006;354:2151–64.

    CAS  Google Scholar 

  47. Kacker SK. The scope of pediatric audiology in India. In: Deka RC, Kacker SK, Vijayalakshmi B, editors. Pediatric audiology in India. 1st ed. New Delhi: Otorhinolaryngological Research Society of AIIMS; 1997. p. 20.

    Google Scholar 

  48. Directorate General of Health Services. National Programme for Prevention and Control of Deafness, project proposal. New Delhi: Ministry of Health and Family Welfare; 2006.

    Google Scholar 

  49. National Programmes for Prevention and Control of Deafness (NPCCD). Annual report 2013–2014. New Delhi: Department of Health & Family Welfare, Ministry of Health & Family Welfare, Government of India.

  50. Nagapoornima P, Ramesh A, Srilakshmi, Rao S, Patricia PL. Gore M Universal hearing screening. Indian J Pediatr. 2007;74:545–8.

    Article  CAS  PubMed  Google Scholar 

  51. Paul AK. Early identification of hearing loss and centralized new-born hearing screening facility-the Cochin experience. Indian Pediatr. 2011;48:355–9.

    Article  PubMed  Google Scholar 

  52. Kumar S, Mohapatra B. Status of newborn screening program in India. Int J Pediatr Otorhinolaryngol. 2011;75:20–6.

    Article  PubMed  Google Scholar 

  53. Mishra G, Sharma Y, Mehta K, Patel G. Efficacy of distortion product oto-acoustic emission (OAE)/auditory brainstem evoked response (ABR) protocols in universal neonatal screening and detecting hearing loss in children >2 years of age. Indian J Otolaryngol Head Neck Surg. 2013;65:105–10.

    Article  PubMed Central  PubMed  Google Scholar 

  54. Rai N, Thakur N. Universal screening of newborns to detect hearing impairment—is it necessary? Int J Pediatr Otorhinolaryngol. 2013;77:1036–41.

    Article  PubMed  Google Scholar 

  55. Augustine AM, Jana AK, Kuruvilla KA, Danda S, Lepcha A, Ebenezer J, et al. Neonatal hearing screening-experience from a tertiary care hospital in southern India. Indian Pediatr. 2014;51:179–83.

    Article  PubMed  Google Scholar 

  56. Paul AK. Hearing screening in newborns - global recommendations & Indian experience. SEARO thematic group meeting on newborn screening and management and prevention of Down syndrome. 5 to 6 August 2014, New Delhi, India.

  57. Ewer AK, Middletonn LJ, Furmston AT, Bhoyar A, Daniels JP, Thangaratinam S, et al. PulseOx study group. Pulse oximetry screening for congenital heart defects in newborn infants: a test accuracy study. Lancet. 2011;378:785–94.

    Article  PubMed  Google Scholar 

  58. Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012;379:2459–64.

    Article  PubMed  Google Scholar 

  59. Vaidyanathan B, Sathish G, Mohanan ST, Sundaram KR, Warrier KK, Kumar RK. Clinical screening for congenital heart disease at birth: a prospective study in a community hospital in Kerala. Indian Pediatr. 2011;48:25–30.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, 110060, India

    Ishwar C. Verma, Sunita Bijarnia-Mahay, Geetu Jhingan & Jyotsna Verma

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  1. Ishwar C. Verma
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Correspondence to Ishwar C. Verma.

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Verma, I.C., Bijarnia-Mahay, S., Jhingan, G. et al. Newborn Screening: Need of the Hour in India. Indian J Pediatr 82, 61–70 (2015). https://doi.org/10.1007/s12098-014-1615-0

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