Lecture 6 - PGT Flashcards
What is the name of the preimplantation genetic testing technique used to screen for aneuploidy?
PGT-A (Preimplantation Genetic Testing for Aneuploidies)
What are three applications of PGT-A?
Any three of the following:
Infertility patients2
Advanced maternal age (over 38 years)2
Recurrent miscarriage (3 or more consecutive miscarriages)2
Recurrent implantation failure (10 or more embryos transferred without a successful pregnancy)
What does the acronym PGT-M stand for?
Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders
Give two examples of monogenic diseases.
Any two of the following:
Cystic fibrosis4
Hemophilia4
Autism
What is the name of the “one-size-fits all” test for performing PGT for monogenic disorders?
Karyomapping
What is the name of the preimplantation genetic testing technique used to identify embryos with chromosomal structural rearrangements?
PGT-SR (Preimplantation Genetic Testing for Chromosomal Structural Rearrangements)
What is the most common chromosome rearrangement in the general population?
Reciprocal translocatio
Name a sequencing technique that is useful for all three types of PGT.
Next Generation Sequencing (NGS)
True or False: NGS allows for the analysis of millions of DNA fragments at the same time.
True
What is the term for a condition where different cells within one embryo have a different chromosomal constitution?
Chromosomal mosaicism
According to PGDIS, how many cells should ideally be biopsied for the reliable detection of mosaicism?
5
When prioritizing mosaic embryos for transfer, mosaic __________ is preferred over mosaic __________
monosomy, trisomy
True or False: PGT is a selection tool that can repair abnormal embryos.
False
