Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India.
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Date
2014-09
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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.
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Keywords
Feasibility, Recall rate, Metabolic disorders, Neonate
Citation
Gopalakrishnan Vignesh, Joshi Kriti, Phadke Shubha, Dabadghao Preeti, Agarwal Meenal, Das Vinita, Jain Suruchi, Gambhir Sanjay, Gupta Bhaskar, Pandey Amita, Kapoor Deepa, Kumar Mala, Bhatia Vijayalakshmi. Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India. Indian Pediatrics. 2014 Sept; 51(9): 701-705.