Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma

Abstract excerpt

BACKGROUND: Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, and 13. We sought to extend these analyses to examine subchromosomal copy number variants...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital heart defects research
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics