PREIMPLANTATION GENETIC TESTING (PGT)

Preimplantation genetic testing (PGT) refers to testing the embryos for abnormal chromosomes before they are transferred to the uterus. Embryo biopsy is done in the embryology lab using in vitro fertilization (IVF). PGT determines if the embryos have normal chromosome number of if they carry a genetic abnormality.

ANEUPLOIDY CHROMOSOME SCREENING (PGT-A)

PGT-A select IVF embryos with the highest potential of ongoing implantation/pregnancy. The transfer of an euploid embryo results in similar implantation rates regardless of maternal age.

· Advanced maternal age

· Repeated IVF and implantation failure

· Recurrent pregnancy loss

· Fetal sex and X-linked recessive disease

SINGLE GENE DISORDERS (PGT-M)

When one or both genetic parents have a known genetic abnormality and testing is performed on an embryo to determine if it also carries a genetic abnormality.

· Hereditary recessive and dominant gene abnormality (Examples: cystic Fibrosis, Sickle Cell Anemia, Spinal Muscular Atrophy, ect)

· Cancer genetics (example BRCA mutation)

· HLA typing and bone marrow transplant

STRUCTURAL CHROMOSOME REARRANGEMENTS (PGT-SR)

Couples with Recurrent Pregnancy Loss may have a "balance" structural chromosome abnormality. Although they have normal genetic content, the embryos may be abnormal, leading to miscarriage.

· Recurrent pregnancy loss due to genetic translocation