Incident of Salt-Losing Congenital Adrenal Hyperplasia

In New South Wales we have long been aware that, in our community, the incidence of the salt-losing variant of congenital adrenocortical hyperplasia differs from that reported in the literature. It was of interest then to read of the similar incidence found by Drs. Marks and Fink1 and the even higher incidence reported by Dr. Cohen.2 At the Royal Alexandra Hospital for Children, over the last 17 years 78 children have been seen suffering from congenital adrenocortical hyperplasia.

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Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme

International Journal of Neonatal Screening ◽

10.3390/ijns6030063 ◽

2020 ◽

Vol 6 (3) ◽

pp. 63

Author(s):

Fei Lai ◽

Shubha Srinivasan ◽

Veronica Wiley

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Newborn Screening ◽

Screening Programme ◽

New South ◽

New South Wales ◽

Policy Framework ◽

Adrenal Crisis ◽

Adrenal Hyperplasia ◽

Newborn Screening Programme ◽

South Wales

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Australian Newborn Bloodspot Screening National Policy Framework, screening for congenital adrenal hyperplasia (CAH) was included in May 2018. As part of the assessment for addition of CAH, the national working group recommended a two-tier screening protocol determining 17α-hydroxyprogesterone (17OHP) concentration by immunoassay followed by steroid profile. A total of 202,960 newborns were screened from the 1 May 2018 to the 30 April 2020. A threshold level of 17OHP from first tier immunoassay over 22 nmol/L and/or top 2% of the daily assay was further tested using liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profiling for 17OHP (MS17OHP), androstenedione (A4) and cortisol. Samples with a ratio of (MS17OHP + A4)/cortisol > 2 and MS17OHP > 200 nmol/L were considered as presumptive positive. These newborns were referred for clinical review with a request for diagnostic testing and a confirmatory repeat dried blood spot (DBS). There were 10 newborns diagnosed with CAH, (9 newborns with salt wasting CAH). So far, no known false negatives have been notified, and the protocol has a sensitivity of 100%, specificity of 99.9% and a positive predictive value of 71.4%. All confirmed cases commenced treatment by day 11, with none reported as having an adrenal crisis by the start of treatment.

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