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Open AccessArticle

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

1
Newborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New Zealand
2
Clinical Research Unit, Liggins Institute, University of Auckland, Auckland 1010, New Zealand
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 6; https://doi.org/10.3390/ijns6010006
Received: 24 December 2019 / Revised: 23 January 2020 / Accepted: 24 January 2020 / Published: 28 January 2020
(This article belongs to the Special Issue CAH Screening—Challenges and Opportunities)
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an additional solvent extract step to reduce the number of false positive screening tests. We developed a liquid chromatography tandem mass spectrometry (LCMSMS) method to measure 17-hydroxyprogesterone in bloodspots to replace our current second-tier immunoassay method. The method was assessed using reference material and residual samples with a positive newborn screening result. Correlation with the second-tier immunoassay was determined and the method was implemented. Newborn screening performance was assessed by comparing screening metrics 2 years before and 2 years after LCMSMS implementation. Screening data analysis demonstrated the number of false positive screening tests was reduced from 172 to 40 in the 2 years after LCMSMS implementation. The positive predictive value of screening significantly increased from 1.71% to 11.1% (X2 test, p < 0.0001). LCMSMS analysis of 17OHP as a second-tier test significantly improves screening specificity for CAH due to 21-hydroxylase deficiency in New Zealand.
Keywords: congenital adrenal hyperplasia; 17-hydroxyprogesterone; newborn screening; liquid chromatography tandem mass spectrometry congenital adrenal hyperplasia; 17-hydroxyprogesterone; newborn screening; liquid chromatography tandem mass spectrometry
MDPI and ACS Style

de Hora, M.R.; Heather, N.L.; Patel, T.; Bresnahan, L.G.; Webster, D.; Hofman, P.L. Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand. Int. J. Neonatal Screen. 2020, 6, 6.

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