Preimplantation Genetic Testing (PGT / PGD)

What is PGT?

Preimplantation Genetic Testing (PGT) is an advanced diagnostic method used in IVF (In Vitro Fertilization) that allows couples to detect genetic disorders and chromosomal abnormalities in embryos before pregnancy, increasing the chances of having a healthy child.

Embryos created through IVF are cultured in the laboratory. On days 3–5, or from high-quality embryos, a small biopsy is taken. These samples are analyzed using PGT. Based on the results, genetically normal embryos without specific disorders are selected for transfer to the mother’s uterus or for freezing. This process provides the opportunity to achieve a genetically healthy pregnancy.

When and Who Should Consider PGT?

• Couples at increased risk of genetic disorders (e.g., cystic fibrosis, thalassemia, hemophilia, spinal muscular atrophy, etc.)
• Couples with a history of chromosomal abnormalities in previous pregnancies or children
• Couples at risk of numerical chromosomal abnormalities (aneuploidies)
• When one partner has structural (translocations, inversions) or numerical chromosomal abnormalities
• Couples who have been unsuccessful after two or more IVF cycles
• Cases of male infertility or detected sperm anomalies
• Women aged 36 and older, due to increased risk of fetal chromosomal abnormalities

Benefits of PGT

• Enables the selection of genetically normal, high-quality embryos for uterine transfer
• Increases the success rate of IVF and the probability of pregnancy
• Reduces the risk of genetic disorders and miscarriage
• Helps families at risk of genetic diseases to have healthy children

Types of PGT

• PGT-A (Aneuploidy): Detects numerical chromosomal abnormalities in embryos
• PGT-M (Monogenic/Single-Gene): Detects hereditary diseases caused by specific gene mutations
• PGT-SR (Structural Rearrangements): ): Detects structural chromosomal abnormalities (translocations, inversions, etc.)

PGT helps couples plan a genetically healthy pregnancy, optimize IVF outcomes, and minimize clinical risks.