Newborn Screening: Need of the Hour in India

详细信息    查看全文

• 作者：Ishwar C. Verma (1)
  Sunita Bijarnia-Mahay (1)
  Geetu Jhingan (1)
  Jyotsna Verma (1)
  
  1. Center of Medical Genetics ; Sir Ganga Ram Hospital ; New Delhi ; 110060 ; India
  
• 关键词：Newborn screening ; India ; Congenital hypothyroidism ; Congenital adrenal hyperplasia ; G ; 6PD deficiency ; Hearing loss ; Pulse oximetery ; Congenital heart disease ; Inborn errors of metabolism
• 刊名：The Indian Journal of Pediatrics
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：82
• 期：1
• 页码：61-70
• 全文大小：185 KB
• 参考文献：1. Ten great public health achievements鈥擴nited States, 2001鈥?010. MMWR. 2011;60:619鈥?3.
  2. Padilla CD, Krotoski D, Therrell Jr BL. Newborn screening progress in developing countries鈥搊vercoming internal barriers. Semin Perinatol. 2010;34:145鈥?5. doi:10.1053/j.semperi.2009.12.007 . CrossRef
  3. Boyle CA, Bocchini Jr JA, Kelly J. Reflections on 50聽years of newborn screening. Pediatrics. 2014;133:961鈥?. CrossRef
  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, D茅ry V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40聽years. Bull World Health Organ. 2008;86:317鈥?. CrossRef
  6. Guthrie R. The origin of newborn screening. Screening. 1992;1:5鈥?5. CrossRef
  7. Baker MW, Laessig RH, Katcher ML, Routes JM, Grossman WJ, Verbsky J, et al. Implementing routine testing for severe combined immunodeficiency within Wisconsin鈥檚 newborn screening program. Public Health Rep. 2010;125:S88鈥?5.
  8. Hoffmann GF, Lindner M, Loeber JG. 50聽years of newborn screening. J Inherit Metab Dis. 2014;37:163鈥?. CrossRef
  9. Secretary鈥檚 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鈥?.
  11. Bonham JR. Expanded newborn screening鈥攑rogress into practice. Clin Biochem. 2014;47:697鈥?. CrossRef
  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鈥?1. CrossRef
  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鈥?5.
  14. Minamitani K, Inomata H. Neonatal screening for congenital hypothyroidism in Japan. Pediatr Endocrinol Rev. 2012;10:S79鈥?8.
  15. Morikawa S, Nakamura A, Fujikura K, Fukushi M, Hotsubo T, Miyata J, et al. Results from 28聽years of newborn screening for congenital adrenal hyperplasia in Sapporo. Clin Pediatr Endocrinol. 2014;23:35鈥?3. doi:10.1297/cpe.23.35 . Epub 2014 Apr 20. CrossRef
  16. Le茫o LL, de Aguiar MJB. Newborn screening: what pediatricians should know. J Pediatr (Rio J). 2008;84:S80鈥?0. CrossRef
  17. Bennett MJ. Newborn screening for metabolic diseases: saving children鈥檚 lives and improving outcomes. Clin Biochem. 2014;47:693鈥?. CrossRef
  18. Kochupillai N, Pandav CS, Godbole MM, Mehta M, Ahuja MMS. Iodine deficiency and neonatal hypothyroidism. Bull World Health Organ. 1986;64:547鈥?1.
  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鈥?.
  20. Verma M, Singla D, Crowell SB. G6PD deficiency in neonates: a prospective study. Indian J Pediatr. 1990;57:385鈥?. CrossRef
  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鈥?2.
  22. Rama Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr. 2004;71:157鈥?0. CrossRef
  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鈥?. CrossRef
  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鈥?.
  25. Sanghvi U, Diwakar KK. Universal newborn screening for congenital hypothyroidism. Indian Pediatr. 2008;45:331鈥?.
  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鈥?3. CrossRef
  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鈥?0.
  28. Kumar KR, Ranieri E, Fletcher J. Newborn screening for congenital hypothyroidism in India is overdue. J Neonatal Biol. 2014;3:129. CrossRef
  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鈥?. CrossRef
  30. Shriram V, Shriraam M, Anitharani M, Selvavinayagam, Sathiyasekaran BWC. National health programs in the field of endocrinology and metabolism鈥揗iles to go. Indian J Endocrinol Metab. 2014;18:7鈥?2. CrossRef
  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鈥揻rom Guthrie age to genomic age. J Obstet Gynaecol India. 2010;60:210鈥?0. CrossRef
  33. Kumar RK, Nagar N, Ranieri E. Newborn screening for G6PD deficiency- why is it important for India? Indian J Pediatr. 2014;81:90鈥?. CrossRef
  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鈥?04. doi:10.1038/jp.2013.14 . Epub 2013 Feb 21. CrossRef
  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)鈥揓une 2008 to June 2013. Bangalore: Neogen Labs; 2014.
  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鈥?. CrossRef
  40. Mathai S. A tale of contrasts. CAPE News. 2009;13:1鈥?.
  41. Gambhir P. Cord blood TSH for screening of hypothyroidism: is it justified? Indian Pediatr. 2014;51:503.
  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鈥?3. CrossRef
  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鈥攁 silent revolution New Engl. J Med. 2006;354:2151鈥?4.
  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.
  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.
  49. National Programmes for Prevention and Control of Deafness (NPCCD). Annual report 2013鈥?014. 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鈥?. CrossRef
  51. Paul AK. Early identification of hearing loss and centralized new-born hearing screening facility-the Cochin experience. Indian Pediatr. 2011;48:355鈥?. CrossRef
  52. Kumar S, Mohapatra B. Status of newborn screening program in India. Int J Pediatr Otorhinolaryngol. 2011;75:20鈥?. CrossRef
  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聽years of age. Indian J Otolaryngol Head Neck Surg. 2013;65:105鈥?0. CrossRef
  54. Rai N, Thakur N. Universal screening of newborns to detect hearing impairment鈥攊s it necessary? Int J Pediatr Otorhinolaryngol. 2013;77:1036鈥?1. CrossRef
  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鈥?3. CrossRef
  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鈥?4. CrossRef
  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鈥?4. CrossRef
  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鈥?0. CrossRef
  
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693

文摘

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.