Patients undergoing IVF treatment will be given the option for testing embryos prior to transferring them to the uterus.
Preimplantation genetic testing for aneuploidy (PGT-A),
PGT-A, previously known as preimplantation genetic screening (PGS), screens embryos for how many chromosomes they have. The term ‘aneuploid’ describes an abnormal or unbalanced quantity of chromosomes. The term ‘euploid’ describes a normal or balanced quantity of chromosomes. PGT-A involves taking a small sample of cells from an embryo to determine the quantity of chromosomes contained in that sample. The embryo is then frozen while results are pending.
Preimplantation genetic testing for structural rearrangements (PGT-SR)
PGT-SR is a test that can be performed to determine if an embryo has inherited a balanced or unbalanced form of a chromosome structural rearrangement. This screens embryos for their chromosome quantity. Chromosome structural rearrangements are changes from the normal size or arrangement of chromosomes, which are structures that contain all our genetic material. Individuals with structural chromosome rearrangements are at an increased risk of producing embryos or conceptions with extra or missing genetic material, also referred to as unbalanced embryos. Embryos or conceptions with unbalanced chromosomes typically do not lead to successful pregnancy. The aim of PGT-SR is to determine which embryos have balanced chromosomes and selecting for transfer these ‘balanced’ embryos with the highest chance of success.
Preimplantation genetic testing for monogenic/single gene condition (PGT-M),
PGT-M previously known as preimplantation genetic diagnosis (PGD) is an embryo genetic test for individuals who know they are at an increased risk of passing on a known genetic condition. PGT-M can be performed on embryos to greatly reduce the risk of having an affected child. PGT-M involves custom designing a test for each couple and their specific genetic change to identify and select unaffected embryos for transfer. PGT-M is available for individuals who are at increased risk of passing on a specific single- gene condition. You may consider PGT-M if: You and your partner are known carriers of the same recessive genetic condition (for example cystic fibrosis, spinal muscular atrophy, beta thalassaemia) You are a carrier of an X-linked genetic condition (for example Fragile X syndrome, Duchenne Muscular Dystrophy). You or your partner have or are at risk of having a single-gene condition (for example Huntington’s disease, Marfan syndrome) You or your partner have a gene mutation associated with a hereditary cancer syndrome (for example BRCA1, BRCA2, TP53). You or your partner have had a child or pregnancy affected with a single gene condition.
