Article

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis

2025-11-26

Abstract excerpt

<title>Abstract</title> <p> Whole exome sequencing (WES) is increasingly employed in the prenatal setting to identify genetic causes of fetal anomalies, particularly when cytogenetic tests such as karyotyping and chromosomal microarray (CMA) return normal results. In this prospective study, we assessed the diagnostic yield of trio-based WES (fetus and both parents) in 249 pregnancies with sonographic findings an...

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Literature Corpus work: ebcbd826-7aa9-5c3a-8f11-1af9e452f8cf
DOI: 10.21203/rs.3.rs-8038718/v1

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