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March 14, 2026The Journal of Clinical Endocrinology & Metabolism2 citationsOpen Access

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

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DCDaniel F CarvalhoHLHelena P Lima-ValassiGHGiselle Yuri Hayashi

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.

Abstract

Measurement of 17OHP by LC-MS/MS provides the best performance for serum confirmatory tests and may be complemented by the (17OHP+Δ4)/cortisol ratio analysis. Genotyping is useful mainly to resolve persistently indeterminate biochemical results.

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Cite This Study

Carvalho et al. (2026) studied this question.

synapsesocial.com/papers/69b4fc6ab39f7826a300d3eehttps://doi.org/10.1210/clinem/dgag107
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