Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

Abstract

Newborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent. Performance evaluation of testing reveals a robust screening program with 100% sensitivity and >99% specificity. Hence, we recommend NBS for early diagnosis and treatment to prevent adverse outcomes.

Keywords

congenital adrenal hyperplasia - G6PD - hypothyroidism - newborn screening

Note

The work described in this article has not been published previously. It is not under consideration for publication elsewhere. Its publication is approved by all authors. This work did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Authors' Contributions

J.V. and I.C.V. conceptualized and designed the study; J.V., P.R., D.C.T., G.J., A.S., and S.B. acquired, analyzed, and interpreted the data; J.V., D.C.T., and P.R. drafted and revised the article. All the authors approved the article.

• References

• 1 King JS, Smith ME. Whole-genome screening of newborns? The constitutional boundaries of state newborn screening programs. Pediatrics 2016; 137 (Suppl. 01) S8-S15
• 2 Kemper AR, Green NS, Calonge N. , et al. Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med 2014; 16 (02) 183-187
• 3 Gonzalez J, Willis MS. Robert Guthrie, MD, PhD: clinical chemistry/microbiology. Lab Med 2009; 40 (12) 748-749
• 4 Joseph R, Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S, Yip YY. Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore. Southeast Asian J Trop Med Public Health 1999; 30 (Suppl. 02) 70-71
• 5 Pass KA, Neto EC. Update: newborn screening for endocrinopathies. Endocrinol Metab Clin North Am 2009; 38 (04) 827-837
• 6 Lindner M, Gramer G, Haege G. , et al. 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
• 7 Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health 2018; 8 (02) 021102
• 8 Mehran L, Khalili D, Yarahmadi S. , et al. Worldwide recall rate in newborn screening programs for congenital hypothyroidism. Int J Endocrinol Metab 2017; 15 (03) e55451
• 9 White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21 (03) 245-291
• 10 Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis. Blood Cells Mol Dis 2009; 42 (03) 267-278
• 11 Bernardo J, Nock M. Pediatric provider insight into newborn screening for glucose-6-phosphate dehydrogenase deficiency. Clin Pediatr 2015; 54 (06) 575-578
• 12 Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Newborn screening: need of the hour in India. Indian J Pediatr 2015; 82 (01) 61-70
• 13 Kaur G, Srivastav J, Jain S. , 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 (09) 969-973
• 14 ICMR Task Force on Inherited Metabolic Disorders. Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia. Indian J Pediatr 2018; 85 (11) 935-940
• 15 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 J Public Health 2015; 59 (02) 145-148
• 16 Moinuddin MK, Gagandeep V, Mutalik S. Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in a community by newborn screening. Int J Contemp Pediatr 2017; 4 (03) 1018-1020
• 17 Verma J, Thomas DC, Sharma S. , et al. Inherited metabolic disorders: quality management for laboratory diagnosis. Clin Chim Acta 2015; 447: 1-7
• 18 Unnikrishnan AG, Vyas U. Congenital hypothyroidism - an Indian perspective. Thyroid Res Pract 2017; 14 (03) 99-105
• 19 Chen CY, Lee KT, Lee CTC, Lai WT, Huang YB. Epidemiology and clinical characteristics of congenital hypothyroidism in an Asian population: a nationwide population-based study. J Epidemiol 2013; 23 (02) 85-94
• 20 Harris KB, Pass KA. Increase in congenital hypothyroidism in New York State and in the United States. Mol Genet Metab 2007; 91 (03) 268-277
• 21 Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 2007; 30 (04) 490-506
• 22 Zhang B, Lu L, Lu Z. Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations. J Int Med Res 2017; 45 (02) 481-492
• 23 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 (06) 415-419
• 24 Rama Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr 2004; 71 (02) 157-160
• 25 Fechner PY. Benefits seen with newborn screening for CAH, but false-positives high. AAP News. March 2014
• 26 Joshi SR, Patel RZ, Patel HR, Sukumar S, Colah RB. High prevalence of G6PD deficiency in Vataliya Prajapati community in western India. Haematologia (Budap) 2001; 31 (01) 57-60
• 27 Anderle A, Bancone G, Domingo GJ, Gerth-Guyette E, Pal S, Satyagraha AW. Point-of-care testing for G6PD deficiency. Opportunities for Int J Neonatal Screen 2018; 4 (04) 34
• 28 Bisoi S, Chakraborty S, Chattopadhyay D, Biswas B, Ray S. Glucose-6-phosphate dehydrogenase screening of babies born in a tertiary care hospital in West Bengal. Indian J Public Health 2012; 56 (02) 146-148
• 29 Frank JE. Diagnosis and management of G6PD deficiency. Am Fam Physician 2005; 72 (07) 1277-1282
• 30 Missiou-Tsagarakis S. Greek neonatal screening program for glucose-6-phosphate dehydrogenase deficiency. In: Therrell Jr. BL. , ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers; 1987
• 31 WHO Working Group. Glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ 1989; 67 (06) 601-611