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

Key Points

• 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.