Genetic Testing

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

Pre-Implantation Genetic Screening (PGS), also referred to as Pre-Implantation Genetic Testing for Aneuploidy (PGT-A), is performed typically at the blastocyst stage of embryo 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.

Pre-Implantation Genetic Diagnosis (PGD) is typically used to detect single gene pathologies.  Like PGS / PGT-A, a biopsy is conducted to each embryo and a probe is created in the lab to analyze for a particular pathology that might be present in one’s family history.  It helps prevent the birth of a child with a hereditary disease.

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

The most common indications for these testing method are:

• Risk of formation of genetic abnormalities in a child;
• The woman’s age is over 35
• The age of the man is over 40;
• 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);
• Frequent miscarriages;
• Multiple failed IVF protocols;