The Indian Practitioner

Open Access Open Access  Restricted Access Subscription Access
Open Access Open Access Open Access  Restricted Access Restricted Access Subscription Access

New Born Screening in India: A Time to Implement National Policy


Affiliations
1 Founder Chairman, Foundation for Research in Genetics and Endocrinology- Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India
2 FRIGE-Institute of Human Genetics, Ahmedabad., India
3 Department of Genomics and Bioinformatics, FRIGE-Institute of Human Genetics, Ahmedabad, India
     

   Subscribe/Renew Journal


India has the second largest population in the world and ~60,000 children are born every day. Due to the high birth rate in the country, a large number of infants are born with congenital malformations, genetic conditions like inborn error of metabolic disorders (IEM). Many of these IEMs are treatable if diagnosed at an early age. Interestingly, there are a few conditions like congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), Glucose 6 phosphate dehydrogenase (G6PD) deficiency that are treatable with a minimum of cost if identified early, which is the primary norm for new born screening (NBS). Hence, the presence of a screening program that screens newborn babies for common treatable conditions is essential to identify affected babies early. This shall aid in significant reduction of infant morbidity, mortality in the country with a significant reduction in national health burden. The present article describes the key points of a successful newborn screening program. It emphasizes the need for setting up a centralized screening program in India for the treatable genetic conditions: congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency.



Subscription Login to verify subscription
User
Notifications
Font Size


  • Guthrie R. The origin of newborn screening. Screening. 1992;1(1):5-15. doi:10.1016/0925-6164(92)90025-Z

  • Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P. Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *. Orphanet J Rare Dis. 2011;6:44. doi:10.1186/1750-1172-6-44

  • Kapoor S, Thelma BK. Status of Newborn Screening and Inborn Errors of Metabolism in India. Indian J Pediatr. 2018;85(12):1110-1117. doi:10.1007/s12098-018-2681-5

  • ICMR Task Force on Inherited Metabolic Disorders. Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. Indian J Pediatr. 2018;85(11):935-940. doi:10.1007/s12098-018-2645-9

  • Goyal M, Garg A, Goyal MB, Kumar S, Ramji S, Kapoor S. Newborn screening for G6PD deficiency: A 2-year data from North India. Indian Journal of Public Health. 2015;59(2):145. doi:10.4103/0019-557X.157537

  • Moinuddin M, Gagandeep V, Mutalik S. Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in a community by newborn screening. International Journal of Contemporary Pediatrics. 2017;4:1018. doi:10.18203/2349-3291. ijcp20171719

  • Desai M, Vishwanath T, Sheth AR, Raikar RS. Neonatal screening for hypothyroidism--a review experience with thyrotropin estimation in the newborn. Indian Pediatr. 1978;15(6):463-467.

  • Rao NA, Devi ARR, Savithri HS, Rao SV, Bittles AH. Neonatal screening for amino acidaemias in Karnataka, South India. Clinical Genetics. 1988;34(1):60-63. doi:10.1111/ j.1399-0004.1988.tb02616.x

  • Ramadevi R, Savithri HS, Devi AR, Bittles AH, Rao NA. An unusual distribution of glucose-6-phosphate dehydrogenase deficiency of south Indian newborn population. Indian J Biochem Biophys. 1994;31(4):358-360.

  • Kaur G, Srivastav J, Jain S,Chawla D, Chavan BS, Atwal R, Randhawa G, Kaur A, Prasad R.. 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(9):969-973. doi:10.1007/s12098-010-0150-x

  • Sahai I, Zytkowicz T, Kotthuri SR, Kotthuri AL, Eaton RB, Akella RR. Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India. Indian J Pediatr. 2011;78(8):953-960. doi:10.1007/s12098-011-0398-9

  • Colaco MP, Desai MP, Ajgaonkar AR,Mahadik CV, VAS FE. Neonatal screening for hypothyroidism. Indian Pediatr. 1984;21(9):695-700.

  • Desai MP, Upadhye P, Colaco MP, Mehre M, Naik SP, Vaz FE, Nair N, Thomas M. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36-42.

  • Verma J, Roy P, Thomas DC, Jhingan G, Singh A, BijarniaMahay S, Verma IC. Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India. J Pediatr Intensive Care.2020;9(1):40-44. doi:10.1055/s-0039-1698424

  • Kommalur A, Devadas S, Kariyappa M, Sabapathy S, Benakappa A, Gagandeep V, Veranna Sajjan S, KrishnapuraLakshminarayana S, Dakshayani B, Devi Chinnappa G. Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience. J Trop Pediatr. 2020;66(3):284289. doi:10.1093/tropej/fmz067

  • Fisher DA, Klein AH. Thyroid Development and Disorders of Thyroid Function in the Newborn. New England Journal of Medicine.1981;304(12):702-12.doi:10.1056/ NEJM198103193041205

  • Walfish PG. Evaluation of three thyroid-function screening tests for detecting neonatal hypothyroidism. Lancet. 1976;1(7971):1208-1210. doi:10.1016/s0140-6736(76)92159-0

  • Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res. 1997;48(2):51-61. doi:10.1159/000185485

  • Clayton PE, Miller WL, Oberfield SE, et al. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res. 2002;58(4):188-195. doi:10.1159/000065490

  • Belinda G, Vinay D, Moolechery J, Moolechery J, Mathew V, Anantharaman R, Ayyar V, Bantwal G. Congenital adrenal hyperplasia - experience from a tertiary centre in South India. Indian J Endocrinol Metab. 2012;16Suppl2:S385-S386. doi:10.4103/2230-8210.104102

  • Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: a study of 194 cases. Endocr Connect. 2018;7(2):364-371. doi:10.1530/EC-18-0022

  • Devi ARR, Naushad SM. Newborn screening in India. Indian J Pediatr. 2004;71(2):157-160. doi:10.1007/BF02723099

  • Kishore Kumar R, Das H, Kini P. Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for? J Obstet Gynaecol India. 2016;66(6):415-419. doi:10.1007/s13224-015-0712-y

  • Pearce M, Dauerer E, DiRienzo AG, Caggana M, Tavakoli NP. The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns. Eur J Pediatr. 2017;176(1):121-129. doi:10.1007/s00431-0162814-7

  • González EC, Carvajal F, Frómeta A, Arteaga AL, Castells EM, Espinosa T, Coto R, Pérez PL, Tejeda Y, Del Río L, Segura MT. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience. Clin Chim Acta.2013;421:73-78. doi:10.1016/j.cca.2013.02.020

  • Chennuri VS, Mithbawkar SM, Mokal RA, Desai MP. Serum 17 alpha hydroxyprogesterone in normal full term and preterm vs sick preterm and full term newborns in a tertiary hospital. Indian J Pediatr. 2013;80(1):21-25. doi:10.1007/ s12098-012-0856-z

  • Vats P, Dabas A, Jain V, Seth A, Yadav S, Kabra M, Gupta N, Singh P, Sharma R, Kumar R, Polipalli SK. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. Indian Pediatr. 2020;57(1):49-55.

  • Speiser PW, Arlt W, Auchus RJ, et al. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline. The Journal of Clinical Endocrinology & Metabolism. 2018;103(11):4043-4088. doi:10.1210/jc.2018-01865

  • Olgemöller B, Roscher AA, Liebl B, Fingerhut R. Screening for Congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab. 2003;88(12):5790-5794. doi:10.1210/jc.2002021732

  • Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician. 2005;72(7):1277-1282.

  • Mohanty D, Mukherjee MB, Colah RB. Glucose-6-phosphate dehydrogenase deficiency in India. Indian J Pediatr. 2004;71(6):525-529. doi:10.1007/BF02724295

  • Mezzacappa MA, Facchini FP, Pinto AC, et al. Clinical and genetic risk factors for moderate hyperbilirubinemia in Brazilian newborn infants. J Perinatol. 2010;30(12):819-826. doi:10.1038/jp.2010.48

  • Gómez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, et al. Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World. Int J Mol Sci. 2016;17(12):2069. doi:10.3390/ijms17122069

  • Bubp J, Jen M, Matuszewski K. Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)–Deficient Patients: Implications for Pharmacy. Pharmacy and Therapeutics. 2015;40(9):572.

  • Beutler E, Blume KG, Kaplan JC, Löhr GW, Ramot B, Valentine WN. International Committee for Standardization in Haematology: Recommended Screening Test for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Br J Haematol. 1979;43(3):465-467. doi:10.1111/j.1365-2141.1979.tb03774.x

  • Kaplan M, Leiter C, Hammerman C, Rudensky B. Comparison of Commercial Screening Tests for Glucose-6-Phosphate Dehydrogenase Deficiency in the Neonatal Period. Clinical Chemistry. 1997;43(7):1236-1237. doi:10.1093/clinchem/43.7.1236

  • Padilla CD, Therrell BL. Newborn Screening in the Asia Pacific Region. J Inherit Metab Dis. 2007;30(4):490-506. doi:10.1007/s10545-007-0687-7


Abstract Views: 182

PDF Views: 0




  • New Born Screening in India: A Time to Implement National Policy

Abstract Views: 182  |  PDF Views: 0

Authors

Jayesh Sheth
Founder Chairman, Foundation for Research in Genetics and Endocrinology- Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India
Aadhira Nair
FRIGE-Institute of Human Genetics, Ahmedabad., India
Harsh Sheth
Department of Genomics and Bioinformatics, FRIGE-Institute of Human Genetics, Ahmedabad, India

Abstract


India has the second largest population in the world and ~60,000 children are born every day. Due to the high birth rate in the country, a large number of infants are born with congenital malformations, genetic conditions like inborn error of metabolic disorders (IEM). Many of these IEMs are treatable if diagnosed at an early age. Interestingly, there are a few conditions like congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), Glucose 6 phosphate dehydrogenase (G6PD) deficiency that are treatable with a minimum of cost if identified early, which is the primary norm for new born screening (NBS). Hence, the presence of a screening program that screens newborn babies for common treatable conditions is essential to identify affected babies early. This shall aid in significant reduction of infant morbidity, mortality in the country with a significant reduction in national health burden. The present article describes the key points of a successful newborn screening program. It emphasizes the need for setting up a centralized screening program in India for the treatable genetic conditions: congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency.



References