title: Current and future perspective of newborn screening: an Indian scenario.
abstract: BACKGROUND
  Newborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.
  
  
  METHODS
  We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.
  
  
  RESULTS
  In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.
  
  
  CONCLUSIONS
  Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.
authors.forename: Gurjit
authors.initials: G
authors.lastname: Kaur
authors.forename: Kiran
authors.initials: K
authors.lastname: Thakur
authors.forename: Sandeep
authors.initials: S
authors.lastname: Kataria
authors.forename: Teg Rabab
authors.initials: TR
authors.lastname: Singh
authors.forename: Bir Singh
authors.initials: BS
authors.lastname: Chavan
authors.forename: Gurpreet
authors.initials: G
authors.lastname: Kaur
authors.forename: Rajiv
authors.initials: R
authors.lastname: Atwal
mesh_terms: D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000235:genetics; D015997:Neonatal Screening