The Indian Journal of Pediatrics

, Volume 71, Issue 2, pp 157–160 | Cite as

Newborn screening in India

  • A. Radha Rama DeviEmail author
  • S. M. Naushad
Symposium on Clinical Genetics


Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays have been employed for screening of common inborn errors of metabolism. This study has shown a high prevalence of treatable Inborn errors of metabolism. Congenital hypothyroidsm is the most common disorder (1in1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1in100). Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The study reveals the importance of screening in India, necessitating nation wide large-scale screening.

Key words

Newborn screening Incidence Inborn errors of metabolism 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Guthrie R,Screening for Inborn Errors of Metabolism in the Newborn Infant-a Multiple Test Program. Birth Defects Original Article, Series IV (1962), 92–98.Google Scholar
  2. 2.
    Neonatal screening in Japan. Proceedings of the 20th Anniversary of Nation wide screening in Japan (1997,1998), 17–28.Google Scholar
  3. 3.
    BooK: Neonatal Screening in the 21st Century. Proceedings of the 3rdAsia-Pacific Regional Meeting of the International Society of Neonatal Screening, Nov 15–18, 1998.Google Scholar
  4. 4.
    Anil B. Jalan.Neonatal Metabolic and Genetic Disorders. Vol. 1. Jan 2000Google Scholar
  5. 5.
    Ramadevi AR, Neonatal screening (1983); II International symposium on “Neonatal screening”, Tokyo, JapanGoogle Scholar
  6. 6.
    Ramadevi AR, Rao NA (1988). Neonatal Screening for Aminoacidemias in Karnataka, South India;Clinical Genetics 34: 60–63Google Scholar
  7. 7.
    Ramadevi AR, Appaji Rao (1989) Neonatal screening in IndiaICMR Report Google Scholar
  8. 8.
    Heinrikson, RL, and Meredith, SC, Aminoacid Analysis by Reverse-Phase High-Performance Liquid Chromatography: Precolumn Derivatization with Phenylisothiocyanate.Analytical Biochemistry 136 (1984); 65.PubMedCrossRefGoogle Scholar
  9. 9.
    Garcia AJ, Apitz-Castro Plasma total homocysteine quantification: an improvement of the classical high-performance liquid Chromatographic method with fluorescence detection of the thiol-SBD derivatives.J Chromatogr B Analyt Technol Biomed Life Sci 2002; 5:779(2): 359–363.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2004

Authors and Affiliations

  1. 1.Diagnostic DivisionCenter for DNA Fingerprinting and DiagnosticsHyderabadIndia

Personalised recommendations