Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Objective: Amniocentesis, chorionic villi sampling and first trimester combined testing are able to screen for common trisomies 13, 18, and 21 and other atypical chromosomal anomalies (ACA). The most frequent atypical aberrations reported are rare autosomal aneuploidies (RAA) and copy number variati...

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Bibliographic Details
Main Authors: Thomas Harasim, Teresa Neuhann, Anne Behnecke, Miriam Stampfer, Elke Holinski-Feder, Angela Abicht
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Journal of Clinical Medicine
Subjects:
non-invasive prenatal testing
rare autosomal aneuploidies
copy number variations
clinical significance
Online Access:https://www.mdpi.com/2077-0383/11/2/372

Internet

https://www.mdpi.com/2077-0383/11/2/372

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