02 Jun 2021Ended

Recent advances for simultaneous analysis to determine embryo PGT-A and PGT-M status with NGS


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Jun 2021


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Preimplantation genetic testing (PGT) is typically performed on a limited number of cells from an embryo biopsy and is used to prioritize embryos for .. Read more 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. 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 review will also cover historical developments in PGT and advances such as combining PGT-A and PGT-M.

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