Couples with genetic diseases postpone the thought of having a child for fear of not having healthy children. However, developing technology and advances in medicine allow all problems that may occur during and after pregnancy to be determined beforehand. In this context, pre-transfer genetic diagnosis (PGD) in IVF treatment offers couples who do not have a pregnancy problem but are carriers of a genetic disease, to have a healthy baby. In this context, Gynecology and Obstetrics Specialist Prof. Dr. Yücel Karaman said, “Although the mother and father-to-be do not have any health problems, irregularities can sometimes be seen in the chromosomes and genetic structures at the cellular level. Since this situation affects the embryo to be formed, it is necessary to apply genetically diagnosed in vitro fertilization treatment to such patients.
Choosing the right embryo in the IVF treatment process is important for a healthy treatment process. Therefore, choosing the embryo with the best health status and the highest chance of attachment is determined by Preimplantation Genetic Testing. Underlining that PGD should be applied to couples who are at risk of a single gene disease, namely hemophilia, cystic fibrosis, and common cell anemia, Gynecology and Obstetrics Specialist Prof. Dr. Yücel Karaman, “PGD (Preimplantation Genetic Diagnosis) ensures that the genetic structures of embryos formed in IVF treatment are examined before they are transferred to the uterus. In this way, IVF increases the chance of success and reduces the risk of miscarriage. In addition, it reduces the need for medical termination of pregnancy and prevents unhealthy pregnancy.
What is Preimplantation Genetic Diagnosis (PGD)?
Preimplantation Genetic Diagnosis (PGD) is applied to diagnose whether the embryo is normal in terms of the chromosomes examined and genetic diseases. This method is the genetic testing of quality embryos that have reached the 3rd or 5th day after the fertilization of the eggs in the laboratory in IVF treatment. This test gives information about whether the embryo carries any genetic disease or whether it is chromosomally normal.
How is PGD done?
Before pregnancy occurs, a cell sample is taken from the embryo on the 3rd and 5th days obtained by in vitro fertilization. One or two cell biopsies are taken from the embryos and chromosomal tests are performed. Biopsy embryos are followed. The process is completed by transferring the healthy embryos without any problems to the mother’s womb.
In Which Situations Is Preimplantation Genetic Diagnosis Recommended?
Recurrent pregnancy loss,
Fetal chromosomal abnormality in the history of miscarriage,
Translocation carrier in the mother or father or both,
Having a single gene disease inherited by sex in the mother or father,
Having a single gene disease or carrier in the mother or father,
Obtaining HLA compatible-tissue compatible embryos for the treatment of the diseased child (conditions requiring marrow transplantation),
Preimplantation Genetic Diagnosis is recommended for couples with single gene diseases.