False positivity in newborn screening of 21-hydroxylase deficiency
Authors:
J. David; M. Hedelová; F. Votava
Authors‘ workplace:
Klinika dětí a dorostu, Fakultní nemocnice Královské Vinohrady a 3. lékařská fakulta Univerzity Karlovy, Praha
Published in:
Čes-slov Pediat 2019; 74 (6): 354-358.
Category:
Original Papers
Overview
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® 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.
Keywords:
Birth weight – congenital adrenal hyperplasia – 21-hydroxylase deficiency – gestational age – 17-hydroxyprogesterone – false positivity
Sources
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2019 Issue 6
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