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Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India.
Indian Pediatr ; 2014 Sept; 51(9): 701-705
Artículo en Inglés | 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 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.

Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Tipo de estudio: Estudio diagnóstico / Estudio observacional / Estudio de tamizaje Idioma: Inglés Revista: Indian Pediatr Año: 2014 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Tipo de estudio: Estudio diagnóstico / Estudio observacional / Estudio de tamizaje Idioma: Inglés Revista: Indian Pediatr Año: 2014 Tipo del documento: Artículo