Efficacy of liquid-chromatography and radioimmunoassay in false-positives’ drop-off in CAH newborn screening

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The aim is to evaluate the effectiveness of liquid-chromatography and radioimmunoassay techniques in reducing false positives in newborn screening for congenital adrenal hyperplasia (CAH).
Assessed 17OHP levels using liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
Analyzed the (17OHP+Δ4)/cortisol ratio for enhanced confirmatory tests.
Utilized genotyping for clarification of indeterminate biochemical results.
LC-MS/MS showed superior performance in confirming CAH diagnosis compared to traditional methods.
The (17OHP+Δ4)/cortisol ratio improved accuracy in identifying true positives.
Genotyping assisted in clarifying uncertain biochemical outcomes by providing genetic information.

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Research demonstrates improved accuracy in CAH newborn screening using advanced biochemical methods, suggesting better diagnosis.

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Carvalho et al. (2026) studied this question.

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