Article

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis: a prospective study

2025-07-12

Abstract excerpt

<h4>Design: </h4> Prospective cohort study. <h4>Objective: </h4> We assessed the diagnostic yield of trio-based WES (fetus and both parents) in pregnancies with sonographic findings and prior negative results from quantitative fluorescent PCR (QF-PCR), conducted in parallel with CMA. <h4>Settings: </h4> Prenatal genetic testing was conducted within the public health system of the Balearic Islands, Spain. Testing...

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Literature Corpus work: ba06400f-bb53-5ea8-8581-b811af139db6
DOI: 10.22541/au.175231448.84857857/v1

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