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Genetic Diagnosis – PGT

In some cases, the cause of the infertility problem may be congenital genetic problems in male, female or both. In addition, sometimes even if the couple is fertile, genetic analysis may be required for in vitro fertilization and embryos in order to obtain a healthy baby due to the genetic defects they carry. Although it is controversial, PGT may be an alternative for the couple in recurrent IVF failure.

Two types of testing and biopsy timing are possible in this method; initially biopsy testing and research can be done on 3-days old or 5-days old embryos. In addition, two different tests related to the disorder to be screened, FISH and NGS, may be recommended for the couple. All of these are started by making the necessary preparations before starting the treatment (for the screening of some genetic disorders, the genetic laboratory may need to take a blood sample from the couple in advance and make a preparation that can take 1-2 months). Some special diseases can be carried depending on the gender chromosome (such as hemophilia) and therefore embryo’s gender may be important for disease screening. However, the most important point that the couple should know is that the gender of the embryo is determined by the fertilizing sperm during the in vitro fertilization process, but we still do not have a method in which we can know beforehand whether the genetic load carried by the sperm is male or female and can select sperm accordingly. Therefore, after such a procedure, all embryos may come out as undesired gender or unhealthy.

At Vita Altere IVF Center, we carry the responsibility of being a leading center in our field and aim to offer our esteemed patients the most advanced technology available. In this article, we will share detailed scientific information about Genetic Diagnosis (Preimplantation Genetic Diagnosis – PGT), a crucial process in preventing genetic diseases in IVF treatments and playing a critical role.

Genetic Diagnosis refers to the genetic examination of the embryo during IVF treatment. This method is utilized to verify the genetic health of embryos before implantation, i.e., before being transferred to the mother’s womb. PGT is particularly recommended for couples who are carriers of genetic diseases. This minimizes the risk of transmitting the disease to future generations.

The PGT process begins with the careful extraction of a few cells by microscopic methods at a certain stage of the embryo’s development, usually at the blastocyst stage, obtained during IVF treatment. These cells are then sent to the laboratory for genetic analysis. Genetic analysis allows for the detection of various genetic diseases and chromosomal anomalies. Thus, it becomes possible to select and transfer genetically healthy embryos to the prospective mother.

Situations where PGT can be applied include single-gene disorders (e.g., Cystic Fibrosis, Thalassemia), chromosomal disorders (e.g., Down syndrome, Turner syndrome), and sex-linked genetic diseases. Additionally, PGT is recommended for women experiencing recurrent pregnancy losses or those planning to become mothers at an advanced age.

Another important application of PGT is finding a suitable donor for the treatment of a pre-existing genetic disease within the family, known as a “Savior Sibling,” particularly used in blood and bone marrow diseases.

The success rates of PGT vary depending on the techniques used and the type of genetic disease examined but are generally high. However, like all medical procedures, PGT has some risks and limitations. Therefore, we thoroughly evaluate our patients’ conditions at every stage of the process and offer them the most suitable treatment options.

At Vita Altere IVF Center, we work with a team of experts in genetic diagnosis and PGT. Using the latest technology, we offer personalized treatment plans to our patients. We are proud to stand by our valued patients, using genetic diagnosis methods for healthy generations.