Skip to main content

Advertisement

SpringerLink
Log in

Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

  • Original Article
  • Published:
The Journal of Obstetrics and Gynecology of India Aims and scope Submit manuscript

Abstract

Background

Congenital Adrenal Hyperplasia (CAH) is a disorder—an ideal candidate to deserve newborn screening. CAH accounts for a significant mortality and morbidity in India, and its awareness among obstetricians should be treated as highly important to prevent the problem.

Purpose of the Study

It is very important for a country like India as the incidence of CAH is reasonably high justifying screening program. However, there are simple logistics that need to be followed, and the treating physicians need to be aware of, if one has to reduce the number of false positives and recalls.

Methods

This article takes one through the steps involved in the analysis, interpretation, and reasons for false positives, why the false positives, so that unnecessary calls to parents for repeat sampling are minimized along with the emphasis and the need for the routine screening for CAH.

Results/Conclusion

The results of samples can vary depending on the gestational age of the baby, weight of the baby, sampling time, and the knowledge of these data to the treating Obstetrician and Pediatrician is of paramount importance in preventing repeat samples and frustration for the family and the people involved.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Lloyd-Puryear MA, Tonniges T, van Dyck PC, et al. American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come? Pediatrics. 2006;117(5 Pt.2):S194–211.

    PubMed  Google Scholar 

  2. Recommended newborn screening tests: 29 disorders—March of Dimes. http://www.marchofdimes.com/professionals/14332_15455.asp.

  3. Wilson JMG, Jungner F. Principles and practice of screening for disease. Public Health Papers No. 34, Geneva: World Health Organization; 1968.

  4. Devi AR, Nausahd SM. Newborn screening in India. Indian J Pediatr. 2004;71(2):157–60.

    Article  Google Scholar 

  5. Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, Randhawa G, Kaur A, Prasad R. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian J Pediatr. 2010;77:969–73.

    Article  PubMed  Google Scholar 

  6. Kapoor S, Kabra M. Newborn screening in India: current perspectives. Ind Pediatr. 2010;47(3):219–24.

    Article  Google Scholar 

  7. Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Newborn screening need of the hour in India. Indian J Pediatr. 2015;82(1):61–70.

    Article  PubMed  Google Scholar 

  8. Hiraki S, Green NS. Newborn screening for treatable genetic conditions: past, present and future. Obstet Gynecol Clin N Am. 2010;37:11–21.

    Article  Google Scholar 

  9. American College of Obstetricians and Gynecologists. ACOG committee opinion no. 393, December 2007. Newborn Screening. Obstet Gynecol. 2007; 110.

  10. Padilla CD, Therell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007;30:490–506.

    Article  PubMed  Google Scholar 

  11. Maiti A, Chatterjee S. Congenital adrenal hyperplasia: an Indian experience. J Paed Child Health. 2011;47(12):883–7.

    Article  Google Scholar 

  12. Van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2004;151(Suppl 3):U71–5.

    Article  PubMed  Google Scholar 

  13. Pang S. Newborn screening for congenital adrenal hyperplasia. Pediatr Ann. 2003;32(8):516–23.

    Article  PubMed  Google Scholar 

  14. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr. 1997;9(4):419–23.

    Article  CAS  PubMed  Google Scholar 

  15. Wilcken B. Ethical issues in newborn screening and the impact of new technologies. Eur J Pediatr N Engl J Med. 2003;162(Suppl 1):S62–6.

    Article  Google Scholar 

  16. Warne GL, Armstrong KL, Faunce TA, Wilcken BM, Boneh A, Geelhoed E, Craig ME. The case for newborn screening for congenital adrenal hyperplasia in Australia. Med J Aust. 2010;192(2):107.

    PubMed  Google Scholar 

  17. Olgemoller B, Roscher AA, Liebel B, Fingerhut R. Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab. 2003;88:5790–4.

    Article  PubMed  Google Scholar 

  18. Tajima T, Fujikura K, Fukushi M, Hotsubo T, Mitsuhashi Y. Neonatal screening for congenital adrenal hyperplasia in Japan. Pediatr Endocrinol Rev. 2012;10(Suppl 1):72–8.

    PubMed  Google Scholar 

  19. Choudhuri T, Sengupta S. Inborn errors of metabolism—an Indian perspective. Int J Hum Genet. 2006;6:89–91.

    Google Scholar 

  20. Committee on Genetics. Issues in newborn screening. Paediatrics. 1992;89:345–9.

    Google Scholar 

  21. Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002;5:192–6.

    Article  CAS  PubMed  Google Scholar 

  22. Cunningham G. The science and politics of screening newborns. N Engl J Med. 2002;346(14):1084–5.

    Article  PubMed  Google Scholar 

  23. Nagar N, Kishore Kumar R. Challenges in implementation of universal neonatal screening in India: P56—Poster presentation @ NNF, Pune 13–16 December 2007.

  24. Menon PSN, Virmani A, Sethi AK, Verma IC, Rohatgi M, Gupta DK, Gupta AK. Congenital adrenal hyperplasia: experience at intersex clinic, AIIMS. Indian J Pediatr. 1992;59:531–5.

    Article  CAS  PubMed  Google Scholar 

  25. Fernhoff PM. Newborn screening for genetic disorders. Pediatr Clin N Am. 2009;56(3):505–13.

    Article  Google Scholar 

Download references

Compliance with Ethical Requirements and Conflict of Interest

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5). Informed consent was obtained from all patients for being included in the study.

Author information

Authors and Affiliations

  1. Cloudnine Hospitals, 1533, 3rd Block, Jayanagar, 9th Main, Bangalore, 560 011, India

    R. Kishore Kumar, Hari Das & Prakash Kini

  2. Notre Dame University, Perth, Australia

    R. Kishore Kumar

Authors
  1. R. Kishore Kumar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hari Das
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Prakash Kini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to R. Kishore Kumar.

Additional information

Dr. R. Kishore Kumar is a Consultant Neonatologist & Paediatrician in Cloudnine Hospitals and Adjunct Professor in Neonatology & Paediatrics, Notre Dame University; Dr. Hari Das is the Chief Pathologist in Cloudnine Hospitals; Dr. Prakash Kini is a Senior Consultant Obstetrician & Gynaecologist in Cloudnine Hospitals.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kishore Kumar, R., Das, H. & Kini, P. Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?. J Obstet Gynecol India 66, 415–419 (2016). https://doi.org/10.1007/s13224-015-0712-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13224-015-0712-y

Keywords

Search

Navigation