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hrp0086p1-p32 | Adrenal P1 | ESPE2016

Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program

Miranda Mirela , Santos Eliane dos , Carvalho Daniel de , Rodrigues Andressa , Nader Ivana , Junior Joao Amelio , Mendonca Berenice , Bachega Tania

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

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Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program

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