Pre-implantation Genetic Testing (PGT)

PGT-a, or Preimplantation Genetic Testing for aneuploidies, involves performing a biopsy on an embryo to test for genetic abnormalities. This procedure is usually recommended in cases of recurrent treatment failures, previous chromosomal abnormalities, or when there is a need to ensure the transfer of a euploid (equal number chromosome) embryo into the uterus.

Chromosomal abnormalities such as Down's syndrome or Turner syndrome are examples of aneuploid conditions. Down's syndrome typically involves an extra chromosome (47XXY), while Turner syndrome involves a missing chromosome (45X0). These abnormalities can significantly impact the development and health of the baby.

During the PGT-a procedure, a biopsy is taken from the outer layer of the embryo, specifically from the trophoblast cells that form the placenta, without touching the inner cell mass that will eventually develop into the baby. This ensures that the biopsy does not harm the part of the embryo that will form the fetus.

After the biopsy, the embryos must be frozen and stored, as the genetic testing results can take up to 14 days to obtain. Once the results are available and a euploid embryo is identified, it can be transferred into the uterus during the next treatment cycle. This approach increases the likelihood of a successful pregnancy and reduces the risk of genetic disorders.