Single Molecule Sequencing A New Approach for Preimplantation Testing and Noninvasive Prenatal Diagnosis Confirmation of Fetal Genotype

We investigated the potential of next-generation sequencing (NGS) as an alternative methodology for preimplantation genetic testing of monogenic disease (PGT-M) with HLA matching and for noninvasive prenatal diagnosis follow up. The case involved parents who were carriers of the FANCG 260delG mutation. Following clinical PGT using conventional STR and mutation analysis, two euploid disease-free embryos were transferred resulting in a twin pregnancy. Using the original embryo whole genome amplification products from 10 embryos, NGS confirmed the genotypes of the eight non-transferred embryos for both mutation status and HLA combination.

Source: Journal of Molecular Diagnostics - November 17, 2019 Category: Pathology Authors: Svetlana Rechitsky, Anver Kuliev, Geraldine San Ramon, Ilan Tur-Kaspa, Yin Wang, Wenjie Wang, Xueqing Wu, Li Wang, Don Leigh, David S. Cram Tags: Regular article Source Type: research