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Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

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An Erratum to this article was published on 01 January 2015

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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Authors and Affiliations

  1. Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India

    Vignesh Gopalakrishnan, Kriti Joshi, Preeti Dabadghao & Vijayalakshmi Bhatia

  2. Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India

    Shubha Phadke & Meenal Agarwal

  3. Departments of Obstetrics and Gynecology, King George’s Medical University (KGMU), Lucknow, Uttar Pradesh, India

    Vinita Das & Amita Pandey

  4. Departments of Nuclear Medicine, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India

    Suruchi Jain & Sanjay Gambhir

  5. Departments of Suvidha Diagnostics, King George’s Medical University (KGMU), Lucknow, Uttar Pradesh, India

    Bhaskar Gupta

  6. Departments of Obstetrics and Gynecology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India

    Deepa Kapoor

  7. Departments of Pediatrics, King George’s Medical University (KGMU), Lucknow, Uttar Pradesh, India

    Mala Kumar

Authors
  1. Vignesh Gopalakrishnan
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  2. Kriti Joshi
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  3. Shubha Phadke
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  4. Preeti Dabadghao
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  5. Meenal Agarwal
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  6. Vinita Das
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  7. Suruchi Jain
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  8. Sanjay Gambhir
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  9. Bhaskar Gupta
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  10. Amita Pandey
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  11. Deepa Kapoor
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  12. Mala Kumar
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  13. Vijayalakshmi Bhatia
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Corresponding author

Correspondence to Vijayalakshmi Bhatia.

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Gopalakrishnan, V., Joshi, K., Phadke, S. et al. Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. Indian Pediatr 51, 701–705 (2014). https://doi.org/10.1007/s13312-014-0485-x

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  • DOI: https://doi.org/10.1007/s13312-014-0485-x

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