Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA

During pregnancy, a percentage of the cell-free DNA circulating in the maternal blood is represented by the cell-free foetal DNA (cffDNA), constituting an accessible source for non-invasive prenatal genetic screening. The coexistence of the maternal DNA, the dominant fraction of cell-free DNA, together with the cffDNA component, and the scarcity of the cffDNA itself, make applying traditional methods of genetics and molecular biology impossible. Next-generation sequencing methods are widely used to study foetal aneuploidies.

Source: Journal of Molecular Diagnostics - April 23, 2019 Category: Pathology Authors: Claudio Dello Russo, Anthony Cesta, Salvatore Longo, Maria Antonietta Barone, Antonella Cima, Alvaro Mesoraca, Davide Sparacino, Antonella Viola, Claudio Giorlandino Tags: Technical Advance Source Type: research