title: Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Genetic Centre, Government Medical College & Hospital, Sector 32, Chandigarh, India 160031. gurjitkaur123@rediffmail.com
authors.forename: Gurjit
authors.initials: G
authors.lastname: Kaur
authors.forename: Jyoti
authors.initials: J
authors.lastname: Srivastav
authors.forename: Suksham
authors.initials: S
authors.lastname: Jain
authors.forename: Deepak
authors.initials: D
authors.lastname: Chawla
authors.forename: Bir S
authors.initials: BS
authors.lastname: Chavan
authors.forename: Rajiv
authors.initials: R
authors.lastname: Atwal
authors.forename: Gurpreet
authors.initials: G
authors.lastname: Randhawa
authors.forename: Avneet
authors.initials: A
authors.lastname: Kaur
authors.forename: Rajendra
authors.initials: R
authors.lastname: Prasad
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000453:epidemiology; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007194:India; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D012737:Sex Factors
references.citation: J Inherit Metab Dis. 2007 Aug;30(4):490-506
references.pmid: 17643195
references.citation: Indian J Med Res. 1991 Apr;94:161-9
references.pmid: 1879891
references.citation: Indian J Pediatr. 2004 Feb;71(2):157-60
references.pmid: 15053381
references.citation: Clin Biochem. 2004 Sep;37(9):791-7
references.pmid: 15329318
references.citation: J Clin Endocrinol Metab. 2003 Dec;88(12):5790-4
references.pmid: 14671170
references.citation: Pediatrics. 2006 Jun;117(6):2290-303
references.pmid: 16740880
references.citation: Acta Paediatr Suppl. 1999 Dec;88(432):13-4
references.pmid: 10626568
references.citation: Pathology. 2008 Feb;40(2):104-15
references.pmid: 18203033
references.citation: Community Genet. 2002;5(3):192-6
references.pmid: 14960891
references.citation: Pediatrics. 1993 Jun;91(6):1203-9
references.pmid: 8502532
references.citation: Pediatrics. 1992 Feb;89(2):345-9
references.pmid: 1530685
references.citation: Aust Paediatr J. 1986 Feb;22(1):53-6
references.pmid: 3718371
references.citation: J Postgrad Med. 2007 Jul-Sep;53(3):193-202
references.pmid: 17699998
references.citation: Pediatrics. 2006 Sep;118(3):1304-12
references.pmid: 16960984