P616: Cell-based noninvasive prenatal screening for a comprehensive fetal genome profiling for pathogenic submicroscopic CNVs in circulating trophoblasts from maternal blood
Year: 2023
Type: conference-abstract
Study design: Systematic Review
Abstract: The analysis of cell-free DNA for non-invasive prenatal screening (NIPS) is widely used for common aneuploidies screening, but is limited for the robust detection of submicroscopic variants. The isolation of intact circulating extravillous trophoblasts (cEVT) from maternal blood with the analysis of pure fetal genomic DNA represents a promising approach for the detection of micro-imbalances. Here we expand our results of a previously presented study using our automated approach for the cEVTs isolation and demonstrate the single cell fetal genome profiling for submicroscopic copy number variations (CNVs) detection.
Source: Genetics in Medicine Open
Authors: Anna Doffini, Claudio Forcato, Chiara Mangano, Debora Lattuada, Roberta Aversa, Chiara Maranta, Emilia Giovannone, Genny Buson, Chiara Bolognesi, Rebecca Maiocchi, Martina Dori, Liyana Jamal, Raidah Ahmad, George S.H. Yeo, Tai Wai Yeo, Silvia Saragozza, Rosamaria Silipigni, Marta Serafini, Andrea Biondi, Sofia Perego, Patrizia Vergani, Enrico Ferrazzi, Paola Ricciardi-Castagnoli, Thomas Musci, Francesca Romana Grati
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4324117252