Status of Newborn Screening and Inborn Errors of Metabolism in India
- 158 Downloads
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM. Published data on IEM in the Indian population comprising universal prospective screening and screening in selected subgroups (patients admitted to pediatric/neonatal ICUs, patients with developmental delay/mental retardation) was collected through a systematic search. The primary focus was to get an estimate of the disease burden in the Indian population. A true prevalence of IEM in India is not available. The systematic review identifies and stratifies the various situations where IEM are found. Data collected by universal screening of the low risk population is essential to identify the true prevalence of IEM in India.
KeywordsInborn errors of metabolism Newborn screening Prevalence Neonates India
The authors are deeply indebted to Science and Engineering Research Board, New Delhi for funding their ongoing NBS study in Delhi state (Grant # IR/SO/LC-0001/2012). The exemplary vision of and valuable support from Dr. T. Ramasami, Former Secretary, Department of Science and Technology, New Delhi to initiate this study is gratefully acknowledged.
SK and BKT conceived the primary NBS project and generated funding support and completed the entire review. They both act as guarantors for the review.
Compliance with Ethical Standards
Conflict of Interest
Source of Funding
Science and Engineering Research Board, New Delhi for NBS study in Delhi state vide Grant # IR/SO/LC-0001/2012 is gratefully acknowledged.
- 9.The Goa newborn screening program [Internet]. 2011. Available at: http://wwww.dhsgoa.gov.in/documents/new_born.pdf. Accessed on 6th June 2017.
- 10.Staff Reporter. Newborn screening helps in detection of metabolic disorders. The Hindu [Internet]. 2013. Available at: http://www.thehindu.com/news/cities/chennai/newborn-screening-helps-in-detection-of-metabolic-disorders/article5368822.ece. Accessed on 3rd June 2017.
- 11.Neogen Labs. First step newborn screening test. [Internet]. 2017. Available at: http://www.neogenlabs.com/doctors.html. Accessed on 3rd June 2017.
- 12.Mathai G. The DISK people. The Telegraph [Internet]. 2008 Jun 23. Available at: http://www.telegraphindia.com/1080623/jsp/knowhow/story_9447002.jsp. Accessed 30 June 2017.
- 16.Tribune News Service. A first: screening for genetic disorders. Chandigarh Tribune [Internet]. Online Edition 2007 Jan 6. Available at: http://www.tribuneindia.com/2007/20070106/cth1.htm. Accessed 3 June 2017.
- 17.Prasad R. Screening newborns for two metabolic disorders takes off. The Hindu [Internet]. 2008 Mar 20. Available at: http://www.hindu.com/seta/2008/03/20/stories/2008032050941500.htm. Accessed 3 June 2017.
- 18.Special correspondent. Newborn Goan babies to be screened for deformities. The Hindu [Internet]. 2008 Feb 9. Available at: http://www.hinduonnet.com/2008/02/09/stories/2008020951810300.htm. Accessed on 3rd June 2017.
- 19.Special correspondent. Centre clears genomics institute in Kalyani. The Telegraph [Internet]. 2009 Feb 24. Available at: http://www.telegraphindia.com/1090224/jsp/nation/story_10581924.jsp. Accessed 3 June 2017.
- 20.Rosy S. Test newborn for disabilities; Bombay High Court Tells Maharashtra. DNA News [Internet]. Online Edition 2011 March 19. Available at: http://www.dnaindia.com/mumbai/report-test-newborns-for-disabilities-bombay-high-court-tells-maharashtra-1521717. Accessed 3 June 2017.
- 21.Kannan R. Newborns screened for disabilities. The Hindu [Internet]. 2008 Mar 24 Available at: http://www.thehindu.com/2008/03/24/stories/2008032459300800.htm. Accessed 11 May 2009.
- 22.Jyothi Datta PT. Dr Lal Path Labs scouts for partner to fund expansion. The Hindu Business Line. [Internet] 2004 Aug 4. Available at: http://www.thehindubusinessline.com/2004/08/04/stories/2004080402840200.htm. Accessed 11 May 2009.
- 23.Dutta R. ICMR to conduct first nation-wide newborn screening for genetic disorders. Express Healthcare Management [Internet]. 2005 Sep 1–15. Available at: http://www.expresshealthcaremgmt.com/20050915/coverstory01.shtml. Accessed 11 May 2009.
- 27.Mohanty MD. Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Orissa, IMS and SUM hospital: a quantitative assay. Exp: Int J Sci Technol. 2014;22:1525–30.Google Scholar
- 79.Christopher R, Natarajan A. Screening for inborn errors of metabolism by tandem mass spectrometry: an eight year experience. Techagappe. 2016;2:21–3.Google Scholar