Article

Understanding Pathogenic Detection Rates of CNVs in Prenatal Diagnosis: Insights from a Cohort Study

2024-10-31

Abstract excerpt

<title>Abstract</title> <p>The current study aimed to explore the clinical utility of CNV-seq in prenatal diagnosis by comparing the pathogenic detection rates of copy number variants (CNVs) in pregnant women who underwent amniocentesis for various indications and across different CNV fragment sizes. A total of 1,118 pregnant women who received CNV-seq testing were included in the cohort and categorized into eigh...

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Literature Corpus work: 29ac4fe3-ae34-5de7-b71e-82cd90df2804
DOI: 10.21203/rs.3.rs-5287476/v1

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