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Newborn screening in India.

A Radha Rama Devi1, S M Naushad

  • 1Diagnostic Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India. radha@cdfd.org.in

Indian Journal of Pediatrics
|April 1, 2004
PubMed
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Expanded newborn screening (NBS) detects treatable inborn errors of metabolism early. This study found a high prevalence of these disorders in India, highlighting the need for nationwide screening programs.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Expanded newborn screening (NBS) is crucial for early detection and intervention of metabolic disorders.
  • Establishing the incidence of these conditions in specific regions is vital for public health planning.

Purpose of the Study:

  • To implement and evaluate the first expanded NBS program in Hyderabad, Andhra Pradesh.
  • To determine the prevalence of treatable inborn errors of metabolism in newborns in this region.

Main Methods:

  • Heel prick capillary blood samples collected on S&S 903 filter paper from newborns.
  • Utilized chromatographic (TLC, HPLC), electrophoretic (cellulose acetate, agarose), and ELISA assays for screening.
  • Screened for common inborn errors of metabolism.

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Main Results:

  • A high prevalence of treatable inborn errors of metabolism was observed.
  • Congenital hypothyroidism (1 in 1700) and Congenital Adrenal Hyperplasia (1 in 2575) were most common.
  • Hyperhomocysteinemia incidence was 1 in 100, with an overall rate of 1 in 1000 newborns affected by metabolic disorders.

Conclusions:

  • The study demonstrates a significant burden of treatable inborn errors of metabolism in the region.
  • Results underscore the importance of newborn screening in India.
  • Advocates for the implementation of a nationwide, large-scale newborn screening program.