Abstract
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.
Highlights
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that occurs when there is a disruption in any of the enzymes along the adrenal steroidogenesis pathway [1,2,3]
In Australia, in New South Wales (NSW) and the Australia Capital Territory (ACT), a two-year pilot study was performed from 1st October 1995 to 30th September 1997, assessing the benefits and feasibility of screening CAH in newborns using an immunoassay for 17OHP with different follow-up action depending on birthweight and concentration of 17OHP compared to clinical diagnoses for newborns born in other states of Australia
This included all dried blood spot (DBS) samples being initially measured for 17-α hydroxyprogesterone (17OHP) using immunoassay followed by a second tier of steroid profiling using liquid chromatography tandem mass spectrometry (LC-MS/MS) for a percentage of samples with the highest 17OHP level
Summary
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that occurs when there is a disruption in any of the enzymes along the adrenal steroidogenesis pathway [1,2,3]. In Australia, in New South Wales (NSW) and the Australia Capital Territory (ACT), a two-year pilot study was performed from 1st October 1995 to 30th September 1997, assessing the benefits and feasibility of screening CAH in newborns using an immunoassay for 17OHP with different follow-up action depending on birthweight and concentration of 17OHP compared to clinical diagnoses for newborns born in other states of Australia. The NSW Newborn Screening Programme commenced screening for CAH in May 2018 using the proposed recommended two-tier method protocol This included all dried blood spot (DBS) samples being initially measured for 17-α hydroxyprogesterone (17OHP) using immunoassay followed by a second tier of steroid profiling using liquid chromatography tandem mass spectrometry (LC-MS/MS) for a percentage of samples with the highest 17OHP level. This paper provides an evaluation of the first 2 years of implementation of screening for CAH in NSW
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