PREIMPLANTATION GENETIC TESTING (PGT)

Preimplantation Genetic Testing (PGT), also known as preimplantation genetic diagnosis or embryo genetic screening (PGS), was initially used for sex selection, family balancing, or to prevent sex-linked diseases. Today, it allows us not only to select the sex but also to assess the genetic health of embryos before transferring them to the uterus.

Performed at the blastocyst stage, around 5 to 7 days of development, PGT involves extracting 4 to 8 cells from the trophoectoderm, which forms the placenta, to analyze their DNA. This process detects the karyotype (sex selection) or potential genetic abnormalities before implantation in the patients’ uterus.

PGT encompasses various genetic diagnostic techniques that can be conducted on embryos before being transferred to the uterus, including:

• PGT-A: Identifies chromosomally normal (euploid/healthy) embryos with the correct chromosomal makeup for healthy development, such as 46XX (female) or 46XY (male). It detects chromosomal abnormalities like trisomy 21 or Down syndrome, for example.

• PGT-M: Detects alterations in a specific gene. It’s especially recommended for couples with a family history of monogenic diseases like fragile X syndrome, cystic fibrosis, Huntington’s disease, hemophilia A, sickle cell anemia, or Marfan syndrome, among others.

• PGT-SR: Used to identify structural chromosomal abnormalities like translocations, inversions, or deletions that can impact embryonic development and increase the risk of congenital malformations.

PGT results are typically available within approximately 10 business days, providing valuable and accurate information to make informed decisions on the path to parenthood. The purpose of this study is the early detection of numerical chromosomal abnormalities.