Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India.
Indian Pediatr
;
2014 Sept; 51(9): 701-705
Article
in English
| IMSEAR
| ID: sea-170781
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 outcomemeasure:
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Diagnostic study
/
Observational study
/
Screening study
Language:
English
Journal:
Indian Pediatr
Year:
2014
Type:
Article
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