Genetic Testing

PGS / PGD

Genetic Testing Decorative Image There are various forms of genetic testing in assisted reproduction that are conducted in different situations. They may include the following:

PGS

Pre-implantation Genetic Screening (PGS), also known as Pre-Implantation Genetic Testing for Aneuploidy (PGT-A), is typically performed at the blastocyst stage of embryonic development. A biopsy of the embryos is conducted using a specialized laser in the lab, and the biopsied cells are sent to a genetics lab for analysis. This method analyzes if each embryo has the correct number of chromosomes prior to implantation into the uterus. Detection of pathologies such as Down's Syndrome can be avoided with the use of PGS / PGT-A.

PGD

Pre-implantation Genetic Diagnosis (PGD) It is typically used to detect single gene disorders. Similar to PGS/PGT-A, a biopsy is performed on each embryo, and a probe is created in the lab to analyze for a specific disorder that may be present in a family's medical history. This helps prevent the birth of a child with a hereditary disease.

Both PGS/PGT-A and PGD have indications. However, the screening can also be done at the request of future parents.

The most common indications for this testing method are:

  • Risk of forming genetic abnormalities in a child;
  • The woman is over 35 years old.
  • The man is over 40 years old.;
  • The presence of hereditary diseases in future parents;
  • Serious issues of spermatogenesis (azoospermia – lack of viable sperm, teratospermia – a large number of defective sperm, oligozoospermia – a small number of sperm);
  • Recurrent miscarriages;
  • Multiple failed IVF protocols;
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