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A Stepwise, Prevalence-Driven Framework to Resolve Prenatal Testing Discrepancies: Integrating Institutional Expertise and a β-Thalassemia Case Study

2025-05-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> While direct testing in prenatal diagnosis provides superior specificity, incorporating indirect methods is also valuable. Concordant results between direct and indirect methods reinforce diagnostic accuracy, while discordant results must be carefully assessed, as they may indicate technical errors or reveal underlying biological mechanisms which would ultimatel...

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Literature Corpus work
4b494607-cc60-54a2-b217-77b8bf002384
DOI
10.21203/rs.3.rs-6400994/v1
Open publication

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A Stepwise, Prevalence-Driven Framework to Resolve Prenatal Testing Discrepancies: Integrating Institutional Expertise and a β-Thalassemia Case StudyDOI 10.21203/rs.3.rs-6400994/v1
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