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False positive cell free DNA screening for microdeletions due to non-pathogenic copy number variants.

Published Web Location

https://doi.org/10.1002/pd.4823
Abstract

What's Already Known about This Topic? Aneuploidy screening using cell free DNA (cfDNA) has recently been expanded to include selected microdeletions. However, validation has been limited, and the real-world positive-predictive value is unknown. What Does This Study Add? Here we describe three cases of false positive cfDNA microdeletions because of small, non-pathogenic copy number variants near the region of interest. These findings elucidate one mechanism of false-positive results with this screening test and suggest that additional validation is necessary before wider use in clinical practice.

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