Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: A Chandigarh experience

Indian Journal of Pediatrics

Volumn 77, Issue 9, 2010, Pages 969-973

  Kaur, Gurjit ^a   Srivastav, Jyoti ^a   Jain, Suksham ^a   Chawla, Deepak ^a   Chavan, Bir S ^a   Atwal, Rajiv ^a   Randhawa, Gurpreet ^a   Kaur, Avneet ^a   Prasad, Rajendra ^b  

^a GOVERNMENT MEDICAL COLLEGE AND HOSPITAL   (India)

^b POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Genetic disorders in India; Neonatal screening; Neonatal screening in India

Indexed keywords

GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HYDROXYPROGESTERONE; THYROTROPIN;

ARTICLE; BLOOD SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; ENZYME BLOOD LEVEL; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HORMONE BLOOD LEVEL; HUMAN; INCIDENCE; INDIA; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING;

ADRENAL HYPERPLASIA, CONGENITAL; CONGENITAL HYPOTHYROIDISM; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HUMANS; INCIDENCE; INDIA; INFANT, NEWBORN; MALE; NEONATAL SCREENING; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; SEX FACTORS;

EID: 78649333925     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0150-x     Document Type: Article

References (26)

1. T Choudhuri S Sengupta 2006 Inborn errors of metabolism-an Indian perspective Int J Hum Genet 6 89 91
2. ICMR 1991 Collaborating centers and Central coordinating unit. Multicentric study on genetic causes of mental retardation in India Indian J Med Res 94 161 169
3. IC Verma S Bijarnia 2002 The burden of genetic disorders in India and a framework for community control Community Genet 5 192 196 1:STN:280: DC%2BD2c%2Fnt1SjsA%3D%3D 10.1159/000066335 14960891 (Pubitemid 35356682)
4. Dutta R. ICMR to conduct first nationwide newborn screening for genetic disorders. Express HealthCare Management. 1st-15th September 2005.
5. Scriver CR, Beaudet AL, Valle D, Sly WS. The metabolic and molecular basis of inherited disease. 6th ed. New York: McGraw-Hill; 1989;1165-80.
6. AR Ramadevi SM Naushad 2004 Newborn screening in India Indian J Pediatr 71 157 160 10.1007/BF02723099
7. Ramadevi AR, Rao A. Neonatal screening in India. ICMR Report 1989.
8. MK Bhasin 2006 Genetics of castes and tribes of India: glucose-6-phosphate dehydrogenase deficiency and abnormal haemoglobins (HbS and HbE) Int J Hum Genet 6 49 72 1:CAS:528:DC%2BD28XktFWns7c%3D
9. B Olgemoller AA Roscher B Liebel R Fingerhut 2003 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 88 5790 5794 10.1210/jc.2002-021732 14671170 (Pubitemid 38033052)
10. Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968;26-7.
11. The Changing Moral Focus of Newborn Screening. An ethical analysis by the President's Council on bioethics. 2008. Washington, DC. www.bioethics.gov.
12. Committee on Genetics 1992 Issues in newborn screening Pediatrics 89 345 349
13. Neonatal Guidelines 9. Newborn screening. British Columbia Reproductive Care Program, November, 1999; 1-5.
14. SR Rose RS Brown T Foley PB Kaplowitz CI Kaye S Sundararajan SK Varma 2006 Update of newborn screening and therapy for congenital hypothyroidism Pediatrics 117 2290 2303 10.1542/peds.2005-0582 16740880 (Pubitemid 46071610)
15. Newborn Screening Practitioner's Manual. The Mountain States Genetics Network. 2003 www.mostgene.org.
16. JE Toublanc 1999 Guidelines for neonatal screening programs for congenital hypothyroidism Acta Paediatr Suppl 432 13 14 10.1080/ 080352599750029277
17. HSS Amar 1997 Screening for congenital hypothyroidism in Southeast Asia J Paediatr Obstet Gynaecol 1 5 9
18. CI Kaye Committee on Genetics 2006 Introduction to the newborn screening fact sheets Pediatrics 118 1304 1312 10.1542/peds.2006-1782 16960984 (Pubitemid 46090079)
19. LCK Low HJ Lin PT Cheung FT Lee SY Chu TL Kwok J Bacon-Shone CY Yeung 1986 Screening for congenital hypothyroidism in Hong Kong Aust Paediatr J 22 53 56 1:STN:280:DyaL283ktFyquw%3D%3D 3718371
20. American Academy of Pediatrics 1993 Newborn screening for congenital hypothyroidism: recommended guidelines Pediatrics 91 1203 1209
21. JA Lott M Sardovia-Iyer KK Lee 2004 Age-dependent cutoff values in screening newborns for hypothyroidism Clin Biochem 37 791 797 1:CAS:528:DC%2BD2cXntFSlsrw%3D 10.1016/j.clinbiochem.2004.05.019 15329318 (Pubitemid 39141121)
22. Lafranchi S. Hypothyroidism. In: Behrman RE, Kleigman RM, Jenson HB, editors. Nelson textbook of pediatrics. 17th ed. Philadelphia: Saunders; 2004;1872-9.
23. V Tripathy BM Reddy 2007 Present status of understanding on the G6PD deficiency and natural selection J Postgrad Med 53 193 202 1:STN:280: DC%2BD2svot1Crtw%3D%3D 10.4103/0022-3859.33867 17699998
24. Newborn Blood-Spot Screening. HGSA-RACP Newborn Screening Joint Subcommittee. HGSA Policy Statement 2004. www.hgsa.com.
25. B Wilcken V Wiley 2008 Newborn screening Pathology 40 104 115 10.1080/00313020701813743 18203033
26. CD Padilla BL Therrell 2007 Newborn screening in the Asia Pacific region J Inherit Metab Dis 30 490 506 10.1007/s10545-007-0687-7 17643195 (Pubitemid 47377044)