title: Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, New South Wales, Australia.
authors.forename: Helena K
authors.initials: HK
authors.lastname: Gleeson
authors.forename: Veronica
authors.initials: V
authors.lastname: Wiley
authors.forename: Bridget
authors.initials: B
authors.lastname: Wilcken
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Elliott
authors.forename: Christopher
authors.initials: C
authors.lastname: Cowell
authors.forename: Michael
authors.initials: M
authors.lastname: Thonsett
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Byrne
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Ambler
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000453:epidemiology* / Q000517:prevention & control; D001315:Australia / Q000453:epidemiology; D005260:Female; D015200:Fluoroimmunoassay; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000191:economics / Q000379:methods*; D009517:New South Wales / Q000453:epidemiology; D010865:Pilot Projects; D011159:Population Surveillance; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity; D012737:Sex Factors
chemical_list: D019326:17-alpha-Hydroxyprogesterone