Genetic Diagnosis – PGT
PGT-A (Preimplantation Genetic Testing for Aneuploidy):
PGT-A is a screening method used to detect abnormalities in the number of chromosomes in embryos. By selecting genetically healthy embryos for transfer, risks such as miscarriage and pregnancy loss are reduced.
PGT-M (Preimplantation Genetic Testing for Monogenic Disorders):
PGT-M is a method used to detect single-gene disorders. It is particularly applied to prevent genetic diseases such as Cystic Fibrosis and Thalassemia, for which couples are carriers, from being passed on to future generations.
PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements):
PGT-SR enables the detection of structural chromosomal abnormalities such as translocations and inversions in embryos. This allows determination of whether embryos have a healthy chromosomal structure and supports appropriate embryo selection.
In some cases, the cause of infertility may be congenital genetic problems present in the woman, the man, or both. Additionally, even if a couple is not infertile, genetic analysis of embryos through IVF may be required to achieve a healthy baby due to inherited genetic defects. Although still debated, PGT may also be considered an alternative for couples experiencing recurrent IVF failures.
In this method, there are two types of tests and biopsy timing options; biopsies can be performed on day 3 or day 5 embryos, depending on the test and investigation to be conducted. Additionally, two different testing methods—FISH and NGS—may be recommended depending on the disorder to be screened. All necessary preparations are completed before treatment begins (for some genetic disorders, the genetic laboratory may need to collect blood samples from the couple in advance, requiring a preparation period of 1–2 months). Some specific diseases are carried on sex chromosomes (such as hemophilia), making embryo sex important for disease screening. However, the most important point couples should understand is that during IVF, embryo sex is determined by the fertilizing sperm, and currently there is no method that allows us to preselect sperm based on whether it carries male or female genetic material. Therefore, after such a procedure, all embryos may be of the undesired sex or genetically unhealthy.
As Vita Altera IVF Center, we carry the responsibility of being a pioneering center in our field and aim to offer the most advanced technology to our valued patients. In this article, we share detailed scientific information about the Genetic Diagnosis (Preimplantation Genetic Testing – PGT) process, which plays a crucial role in IVF treatments and the prevention of genetic diseases.
Genetic Diagnosis is the process of examining the embryo genetically and is applied during IVF treatment. This method is used to confirm that embryos are genetically healthy before implantation, meaning before transfer to the uterus. PGT is especially recommended for couples who are carriers of genetic diseases, as it minimizes the risk of transmitting the disease to future generations.
The PGT process begins with the careful removal of a few cells from embryos at a specific stage of development, usually at the blastocyst stage, using microscopic techniques. These cells are then sent to the laboratory for genetic analysis. Genetic testing enables the detection of chromosomal abnormalities as well as various genetic diseases. As a result, embryos confirmed to be genetically healthy can be selected and transferred to the prospective mother.
PGT can be applied in cases involving single-gene disorders (such as Cystic Fibrosis and Thalassemia), chromosomal abnormalities (such as Down syndrome and Turner syndrome), and sex-linked genetic diseases. Additionally, PGT may be recommended for women of advanced maternal age or those who have experienced recurrent pregnancy losses.
Another important application of PGT is identifying a suitable donor to treat an existing genetic disease within the family. This method, also known as a “Savior Sibling,” is particularly used in blood and bone marrow diseases.
Vita Altera Cyprus IVF Center effectively applies modern techniques in the egg donation process through its technological infrastructure and commitment to medical advancements. This enhances quality and success at every step, from fertilization to embryo transfer. The center utilizes both individualized approaches and advanced technological methods according to couples’ needs:
- Preimplantation Genetic Screening (PGS): PGS enables genetic examination of embryos before transfer, allowing detection of genetic abnormalities and ensuring that only healthy embryos are transferred.
- Embryoscope: The embryoscope continuously monitors embryo development, tracks critical stages, and determines the most suitable transfer time.
- AI-Supported Evaluation: Assessment of embryo quality using artificial intelligence algorithms increases the chances of successful transfer.
- Endometrial Analysis: Analyses performed to determine whether the uterine lining is suitable for pregnancy optimize the timing of embryo transfer.
Although the success rates of PGT vary depending on the techniques used and the type of genetic disorder examined, they are generally high. However, like all medical procedures, PGT has certain risks and limitations. Therefore, at every stage of the process, we carefully evaluate our patients’ conditions and offer the most appropriate treatment options.
As Vita Altera IVF Center, we work with a specialized team in genetic diagnosis and PGT. By utilizing the latest technology, we provide personalized treatment plans for our patients. We are proud to support our valued patients by using genetic diagnostic methods to help create healthy future generations. For more information, you can contact us at +90 392 444 84 82.