Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia.
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.
Gleeson
Helena K
HK
Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, New South Wales, Australia.
Wiley
Veronica
V
Wilcken
Bridget
B
Elliott
Elizabeth
E
Cowell
Christopher
C
Thonsett
Michael
M
Byrne
Geoffrey
G
Ambler
Geoffrey
G
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
D019326:17-alpha-Hydroxyprogesterone