Date: June 2, 2021
Time: 10:00am PDT, 1:00pm EDT
Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for transfer during in vitro fertilization (IVF) procedures. PGT for aneuploidy (PGT-A) is a genetic test that determines whether an embryo biopsy has the correct number of chromosomes. For couples at risk of passing down inherited disorders, an additional test is performed: PGT for monogenic disorders (PGT-M), which determines the affected, carrier, or unaffected status of the embryo prior to transfer.
Traditionally, microsatellite markers such as short tandem repeats (STRs) have been used as linkage markers for PGTM. One drawback of using STR markers for PGT-M is the lack of informative markers sufficiently close to the gene of interest. Additionally, testing and validating STR markers for linkage analysis suitability can be labor-intensive, timeconsuming, and expensive. As a replacement for STRs, advances in next-generation sequencing (NGS) technologies enable PGT-M using multiple informative single-nucleotide variant (SNV) markers with a workflow that combines PGT-A and PGT-M from single embryo biopsy.
The purpose of this talk is to provide an overview of published research describing the application of NGS technologies to determine the aneuploidy and carrier status of an embryo before IVF transfer. The review will also cover historical developments in PGT and advances such as combining PGT-A and PGT-M.
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