Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia

  1. Helena K Gleeson1,
  2. Veronica Wiley2,
  3. Bridget Wilcken2,
  4. Elizabeth Elliott3,
  5. Christopher Cowell1,3,
  6. Michael Thonsett4,
  7. Geoffrey Byrne5,
  8. Geoffrey Ambler1,3,*

Article first published online: 24 SEP 2008

DOI: 10.1111/j.1440-1754.2008.01383.x

Issue

Journal of Paediatrics and Child Health

Journal of Paediatrics and Child Health

Volume 44, Issue 10, pages 554–559, October 2008

Additional Information

How to Cite

Gleeson, H. K., Wiley, V., Wilcken, B., Elliott, E., Cowell, C., Thonsett, M., Byrne, G. and Ambler, G. (2008), Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia. Journal of Paediatrics and Child Health, 44: 554–559. doi: 10.1111/j.1440-1754.2008.01383.x

Author Information

  1. 1

    Institute of Endocrinology and Diabetes,

  2. 2

    Department of Newborn Screening, The Children's Hospital at Westmead,

  3. 3

    Discipline of Paediatrics and Child Health, The University of Sydney, New South Wales,

  4. 4

    Royal Children's and Mater Children's Hospitals, Brisbane, Queensland,

  5. 5

    Princess Margaret Hospital for Children, Perth, Western Australia, Australia.

*Dr Geoffrey Ambler, The Children's Hospital at Westmead, Institute of Endocrinology and Diabetes, Westmead, NSW 2145, Australia. Fax: +61 2 9845 3170; email: geoffa@chw.edu.au

Publication History

  1. Issue published online: 24 SEP 2008
  2. Article first published online: 24 SEP 2008
  3. Accepted for publication 28 March 2008.

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Keywords:

  • Newborn screening;
  • Congenital adrenal hyperplasia;
  • Australian Paediatric Surveillance Unit;
  • Adrenal crisis

Aim:  To assess the benefits and practicalities of setting up a newborn screening (NBS) program in Australia for congenital adrenal hyperplasia (CAH) through a 2 year pilot screening in ACT/NSW and comparing with case surveillance in other states.

Methods:  The pilot newborn screening occurred between 1/10/95 and 30/9/97 in NSW/ACT. Concurrently, case reporting for all new CAH cases occurred through the Australian Paediatric Surveillance Unit (APSU) across Australia. Details of clinical presentation, re-sampling and laboratory performance were assessed.

Results:  185,854 newborn infants were screened for CAH in NSW/ACT. Concurrently, 30 cases of CAH were reported to APSU, twelve of which were from NSW/ACT. CAH incidence was 1 in 15 488 (screened population) vs 1 in 18,034 births (unscreened) (difference not significant). Median age of initial notification was day 8 with confirmed diagnosis at 13(5–23) days in the screened population vs 16(7–37) days in the unscreened population (not significant). Of the 5 clinically unsuspected males in the screened population, one had mild salt-wasting by the time of notification, compared with salt-wasting crisis in all 6 males from the unscreened population. 96% of results were reported by day 10. Resampling was requested in 637 (0.4%) and median re-sampling delay was 11(0–28) days with higher resample rates in males (p < 0.0001). The within-laboratory cost per case of clinically unsuspected cases was A$42 717.

Conclusion:  There seems good justification for NBS for CAH based on clear prevention of salt-wasting crises and their potential long-term consequences. Also, prospects exist for enhancing screening performance.

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