The genetic evaluation performed on embryos developed by in vitro fertilization method is called "Preimplantation genetic diagnosis" (PGD).
What is the purpose of PGT?
Individuals with hereditary genetic diseases face the risk of passing this disease on to their children at varying rates. With the techniques used today, these individuals can have healthy children. In addition, in cases such as advanced maternal age, severe male infertility, or in patients with recurrent pregnancy loss, healthy pregnancies can be achieved by using the in vitro fertilization method + PGT technique.
What are the methods used in PGT?
After the necessary examinations of the couple, approximately 12-12 months can be achieved. After a 13-day treatment period, the eggs are collected and each is fertilized with a separate sperm cell in the laboratory environment. A biopsy is performed on the 3rd or 5th day in a laboratory environment from the morphologically best-looking embryos that are fertilized and continue their development and are sent to the laboratory for genetic examination. Embryos are stored frozen.
For which diseases is PGT application used?
The rate of consanguineous marriage in our country is 23.5%, and this situation causes sick children to occur as a result of the marriage of individuals who are carriers, especially those who do not cause the disease, to each other. The rate of beta thalassemia carriers, which is endemic in our country, is around 2-2.5%. Thalassemia major (patient) children can survive with blood transfusion every 3-5 weeks. The treatment for these patients is stem cell transplantation. However, if carrier status is detected in patients who receive genetic counseling before marriage, such patients can have healthy children with the PGT method.
Other common diseases in our country are
Sickle Cell Anemia
Cystic fibrosis
Spinal Muscular Atrophy
Dushenne/ Becker Muscular Atrophy
Familial Mediterranean Fever < br /> Hemophilia
Color Blindness
Metabolic diseases (Glucose 6 phosphate dehydrogenase deficiency, Hunter's Disease, Fabry Disease, Lesch-Nyhan Syndrome, etc.) can also be used to have healthy children with the PGT method.
In what other situations is PGT used?
L� Blood diseases such as hemorrhage, thalassemia and sickle cell anemia cannot be definitively treated. If bone marrow with the appropriate tissue type is available, definitive treatment can be provided by transplantation. Nowadays, HLA tissue typing can be performed with PGT and tissue typing of embryos can be performed to obtain a healthy sibling that is tissue compatible with the patient sibling.
Also; Also during IVF treatments
1. Advanced maternal age
2. Recurrent in vitro fertilization failure despite transferring good quality embryos
3. Recurrent pregnancy loss
4. Severe Male Infertility p>
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