Preimplantation Genetic Diagnosis

PGD is the process of selecting only healthy embryos and transferring them to the mother after genetic testing of embryos is performed during in vitro fertilization.

PGD process starts with IVF treatment, regardless of whether couples have children before or not.The created embryo is left to develop in special incubators for 3 days after fertilization.On the 3rd day of fertilization, a single cell biopsy is taken from the embryo, which has divided into 8 cells.

As a result of the DNA molecular analysis of the cell biopsies taken in our genetic laboratories, it is clearly determined whether there is an abnormal gene or not.Thus, the genetic health of the embryo is seen. Especially in single gene problems, PGD can be diagnosed very early.

In addition, conditions such as chromosome excess or deficiency are detected during the embryonic period. The embryo with an abnormal structure detected by this method will not be transferred to the mother's uterus, so the problems that it will experience throughout life in the possibility of attachment are prevented at the very beginning.

Furthermore,the genetic screening process allows the separation of the X and Y chromosomes that determine the sex, and the determination of single gene diseases.

The reliability of the test result leads many expectant mothers and fathers to receive PGD treatment. In addition to identifying a genetically healthy baby,

PGD also minimizes some of the problems that may be encountered during IVF treatment.

Other benefits of the PGD process:

• It increases the success of IVF application in appropriate cases.
• It increases the pregnancy rate.
• It reduces the risk of pregnancy resulting in abortion (miscarriage).
• It reduces the need for medical termination of pregnancy.
• It reduces the rate of multiple pregnancy.
• It reduces the economic and psychological burdens of repeated failed IVF attempts.

Mother and father candidates considering PGD treatment first start in vitro fertilization treatment. The procedure is the same as in vitro fertilization.The only difference is the genetic test done before the transfer day. Mother and father candidates can carry out egg, sperm and embryo donation treatments together with PGD procedure.

Whom we recommend PGD?

• For expectant mothers aged 36 and over
• Couples who have not been able to conceive despite two or more in vitro fertilization procedures.
• Couples with recurrent early pregnancy losses (miscarriages) (on the possibility of maternal translocation)
• Balanced translocation carrier couples.
• To mothers with a history of pregnancy with aneuploidy (chromosomal disorder)
• Gonadal mosaicism (couples having normal genetic test results despite two or more birth products with the same abnormality)
• TESE cases (cases with severe male infertility)
• Poor responders (cases that respond inadequately to the hyperstimulation protocol)
• In terms of X-chromosomal inherited diseases, if a direct genetic diagnosis of the disease in question cannot be made, embryonal sex determination.

Chromosomal disorders that can be detected with PGD:

• Down Syndrome
• Edwards Syndrome
• Patau Syndrome
• Klinefelter Syndrome
• Turner Syndrome
• All other chromosomal disorders

Single gene diseases detectable with PGD:

• Mediterranean Anemia (β-thalassemia)
• Sickle Cell Anemia
• Spinal Muscular Atrophy (SMA)
• Congenital Hearing Loss - Deafness
• Cystic fibrosis
• Nijmegen Syndrome
• Leigh's Syndrome
• pompe
• galactosemia
• Niemann Pick
• Otopalatodigital Syndrome
• RH incompatibility
• MTHFR
• prothrombin
• Factor V Leyden