title: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
abstract: OBJECTIVE
  To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the City of Lucknow in Uttar Pradesh, India.
  
  
  METHODS
  Prospective observational study.
  
  
  METHODS
  Two tertiary-care and 5 district hospitals in and around Lucknow.
  
  
  METHODS
  All babies born in above hospitals during the study period.
  
  
  METHODS
  Heel prick samples were collected after 24 hours of life. Dried blood spot TSH, total galactose and biotinidase were assayed by immunofluorometry. Age related cut-offs were applied for recall for TSH. For galactosemia and biotinidase deficiency, manufacturer-suggested recall cut-offs used initially were modified after analysis of initial data.
  
  
  METHODS
  Recall rate for hypothyroidism, galactosemia and biotinidase deficiency.
  
  
  RESULTS
  Screening was carried out for 13426 newborns, 73% of all deliveries. Eighty-five percent of those recalled for confirmatory sampling responded. Using fixed TSH cut off of 20 mIU/L yielded high recall rate of 1.39%, which decreased to 0.84% with use of age-related cut-offs. Mean TSH was higher in males, and in low birth weight and vaginally delivered babies. Eleven babies had congenital hypothyroidism. Recall rates with modified cut-offs for galactosemia and biotinidase deficiency were 0.32% and 0.16%, respectively.
  
  
  CONCLUSIONS
  An outreach program for newborn screening can be successfully carried out in similar socio-cultural settings in India. For hypothyroidism, the high recall rate due to early discharge was addressed by age-related cut-offs.
authors.affiliation: Departments of Endocrinology, *Medical Genetics, $Nuclear Medicine and ^Obstetrics and Gynecology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS); Departments of #Obstetrics and Gynecology and ‡Pediatrics, King George's Medical University (KGMU); and †Suvidha Diagnostics, Lucknow, Uttar Pradesh, India. Correspondence to: Dr V Bhatia, Department of Endocrinology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. vbhatia@sgpgi.ac.in.
authors.forename: Vignesh
authors.initials: V
authors.lastname: Gopalakrishnan
authors.forename: Kriti
authors.initials: K
authors.lastname: Joshi
authors.forename: Shubha
authors.initials: S
authors.lastname: Phadke
authors.forename: Preeti
authors.initials: P
authors.lastname: Dabadghao
authors.forename: Meenal
authors.initials: M
authors.lastname: Agarwal
authors.forename: Vinita
authors.initials: V
authors.lastname: Das
authors.forename: Suruchi
authors.initials: S
authors.lastname: Jain
authors.forename: Sanjay
authors.initials: S
authors.lastname: Gambhir
authors.forename: Bhaskar
authors.initials: B
authors.lastname: Gupta
authors.forename: Amita
authors.initials: A
authors.lastname: Pandey
authors.forename: Deepa
authors.initials: D
authors.lastname: Kapoor
authors.forename: Mala
authors.initials: M
authors.lastname: Kumar
authors.forename: Vijayalakshmi
authors.initials: V
authors.lastname: Bhatia
mesh_terms: D028921:Biotinidase Deficiency / Q000175:diagnosis* / Q000453:epidemiology; D003409:Congenital Hypothyroidism / Q000175:diagnosis* / Q000453:epidemiology; D059788:Dried Blood Spot Testing; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods / Q000592:standards; D011446:Prospective Studies; D012016:Reference Values; D013972:Thyrotropin
chemical_list: D013972:Thyrotropin