Preliminary Report on Neonatal Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Glucose-6-Phosphate Dehydrogenase Deficiency: A Chandigarh Experience
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To establish newborn screening in Indian scenario that could lay a framework for future such initiatives. Three disorders namely, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and glucose-6-phosphate dehydrogenase deficiency (G-6-PDD) were selected for a preliminary study for newborn screening.
Heel-prick blood samples were collected from live-born neonates at 24–48 h of birth as a part of a screening program after prior written consent from the parents. Blood levels of glucose-6-phosphate-dehydrogenase enzyme (G-6-PD), thyroid-stimulating hormone (TSH) and 17-α-OH progesterone (17-OHP) were measured using DELFIA time resolved fluoroimmunoassay.
Six thousand eight hundred and thirteen (6,813) neonates (86.3%), out of a total of 7,893 live births in our institute during the period May’2007 through July’2009, were screened for CAH, CH and G6PD deficiency. Major reason for missing samples was early discharge of the neonates and admission to the neonatal intensive care unit. G-6-PD deficiency was confirmed in 61 cases, congenital hypothyroidism (CH) in 2 cases and congenital adrenal hyperplasia (CAH) in 1 neonate, accounting for an incidence of 1/112 for G-6-PDD, 1/ 3400 for CH and 1/6813 for CAH.
Preliminary data on prevalence of various genetic disorders viz. G-6-PDD, CH and CAH in the population of this region revealed that G-6-PDD is most prevalent disorder followed by CH and CAH. More efforts need to be undertaken to create awareness and emphasis on significance of preventive testing to make screening a successful program in India.
KeywordsNeonatal screening in India Neonatal screening Genetic disorders in India
The authors would like to acknowledge the complete financial assistance extended by Chandigarh Administration for this study. All neonates were screened free of cost.
Kaur G: Design and plan of the study.
Srivastav J: Data Analysis, Calculation of prevalence and Preparation of manuscript.
Jain S: Neonatologist responsible for follow-up and management of high risk neonates.
Chawla D: Neonatologist responsible for follow-up and management of high risk neonates.
Chavan B.S: Design and plan of the study
Atwal R: Biochemical analysis of 17α-OH Progesterone, neonatal TSH and G6PD.
Randhawa G: Pre-test counseling to all parents signifying the importance of screening and consent taking in prescribed Performa.
Kaur A: Pre test counseling to all parents signifying the importance of screening and consent taking in prescribed Performa.
Prasad R: Evaluation of data and preparation of final manuscript.
Conflict of interest
Role of funding source
To establish neonatal screening program in a government organization to identify metabolic disorders in asymptomatic phase and prevent associated physical and mental handicap.
- 1.Choudhuri T, Sengupta S. Inborn errors of metabolism—an Indian perspective. Int J Hum Genet. 2006;6:89–91.Google Scholar
- 2.ICMR. Collaborating centers and Central coordinating unit. Multicentric study on genetic causes of mental retardation in India. Indian J Med Res. 1991;94:161–9.Google Scholar
- 4.Dutta R. ICMR to conduct first nationwide newborn screening for genetic disorders. Express HealthCare Management. 1st–15th September 2005.Google Scholar
- 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.Google Scholar
- 7.Ramadevi AR, Rao A. Neonatal screening in India. ICMR Report 1989.Google Scholar
- 8.Bhasin MK. Genetics of castes and tribes of India: glucose-6-phosphate dehydrogenase deficiency and abnormal haemoglobins (HbS and HbE). Int J Hum Genet. 2006;6:49–72.Google Scholar
- 10.Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: World Health Organization; 1968;26–7.Google Scholar
- 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. Issues in newborn screening. Pediatrics. 1992;89:345–9.Google Scholar
- 13.Neonatal Guidelines 9. Newborn screening. British Columbia Reproductive Care Program, November, 1999; 1–5.Google Scholar
- 15.Newborn Screening Practitioner’s Manual. The Mountain States Genetics Network. 2003 www.mostgene.org.
- 17.Amar HSS. Screening for congenital hypothyroidism in Southeast Asia. J Paediatr Obstet Gynaecol. 1997;1:5–9.Google Scholar
- 20.American Academy of Pediatrics. Newborn screening for congenital hypothyroidism: recommended guidelines. Pediatrics. 1993;91:1203–9.Google Scholar
- 22.Lafranchi S. Hypothyroidism. In: Behrman RE, Kleigman RM, Jenson HB, editors. Nelson textbook of pediatrics. 17th ed. Philadelphia: Saunders; 2004;1872–9.Google Scholar
- 24.Newborn Blood-Spot Screening. HGSA-RACP Newborn Screening Joint Subcommittee. HGSA Policy Statement 2004. www.hgsa.com.