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Prenatal Screening for Microdeletions and Rare Autosomal Aneuploidies

13 Jul 2023

Abstract excerpt

Noninvasive prenatal screening with cell-free DNA is now considered a first-line screening for common aneuploidies. Advancements in existing laboratory techniques now allow to interrogate the entirety of the fetal genome, and many commercial laboratories have expanded their screening panels to include screening for rare autosomal aneuploidies and copy number variants. Here, we review the currently available data...

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PMID: 37438896
DOI: 10.1097/grf.0000000000000799

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