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. Design: Prospective observational study. Setting: Two tertiary-care and 5 district hospitals in and around Lucknow. Participants: 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. Main outcome measure: 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. Conclusion: 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.