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False positivity in newborn screening of 21-hydroxylase deficiency

Publication at Third Faculty of Medicine |
2019

Abstract

In single ventricle patients, hemoptysis is a life-threatening complication. Development of hemoptysis is associaObjective: False positive rate (FPR) in 21-hydroxylase deficiency screening tests is the highest of all screened diseases in the Czech Republic.

The aim of this study was to evaluate the FPR for 17-hydroxyprogesterone (17OHP) decision limits based on gestational age and birthweight. Methods: The study included 129,175 newborns in Bohemian region during the period 2015-2017. 17OHP was analysed using the immune-analytic method (AutoDELFIA(R) PerkinElmer by Wallac Oy, Finland). 411 newborns have been screened as positive newborns.

FPR was compared by statistic method Adjusted Wald interval for a difference of proportions with matched pairs (Software R program). Results: The diagnosis of 21-hydroxylase deficiency was confirmed in eighteen patients, 393 findings were false positive.

Our study showed a statistically significant reduction of FPR using 17OHP decision limits based on gestational age with same sensitivity. Conclusion: The evaluation of 17OHP decision limits based on gestational age reduced FPR and could decrease impacts on healthy part of population.