Preimplantation Genetic Testing - PGT
Preimplantation Genetic Testing
Preimplantation Genetic Testing (PGT) is an advanced laboratory procedure performed during In Vitro Fertilization (IVF) to evaluate the genetic health of embryos before they are transferred to the uterus. It helps identify embryos with specific genetic or chromosomal abnormalities, supporting informed embryo selection.
Today, the terms PGD (Preimplantation Genetic Diagnosis) and PGS (Preimplantation Genetic Screening) have largely been replaced by updated terminology:
- PGT-M (formerly PGD) – Preimplantation Genetic Testing for Monogenic Disorders
- PGT-A (formerly PGS) – Preimplantation Genetic Testing for Aneuploidy
PGT-M (Formerly PGD)
PGT-M is recommended when one or both prospective parents are known carriers of a specific inherited genetic condition. The test identifies embryos affected by or carrying a particular genetic mutation, allowing the selection of embryos that are not affected by the condition.
PGT-M may be considered for couples at risk of transmitting inherited disorders such as cystic fibrosis, sickle cell disease, thalassemia, hemophilia, and many other single-gene disorders.
PGT-A (Formerly PGS)
PGT-A evaluates the number of chromosomes in an embryo to identify chromosomal abnormalities (aneuploidies), such as an extra or missing chromosome.
This test may be particularly beneficial for:
- Women of advanced maternal age (typically 35 years and older)
- Couples with recurrent pregnancy loss
- Patients with repeated IVF implantation failure
- Couples seeking to optimize embryo selection
Selecting chromosomally normal embryos may improve the likelihood of implantation and a successful pregnancy.
What Is the Difference?
PGT-M (PGD) is used to detect specific inherited genetic diseases in embryos when there is a known family risk.
PGT-A (PGS) is used to screen embryos for chromosomal abnormalities, even when there is no known inherited genetic disorder.
Benefits of Preimplantation Genetic Testing
- Supports the selection of embryos with the greatest potential for a healthy pregnancy
- Reduces the risk of transferring embryos with certain genetic or chromosomal abnormalities
- May improve implantation and pregnancy success rates in selected patient groups
- Helps reduce the risk of miscarriage associated with chromosomal abnormalities
- Provides reassurance for couples with a family history of inherited genetic disorders
Preimplantation Genetic Testing is an important part of modern IVF treatment and can help many couples increase their chances of achieving a healthy pregnancy while reducing the risk of passing on certain genetic conditions.