Preimplantation Genetic Testing


The introduction of new technologies in assisted reproduction has changed the way we address infertile couples. Preimplantation Genetic Testing (PGT) is a method of genetic testing after In Vitro Fertilization (IVF) and prior to the implantation of the embryo in woman’s uterus. Specifically, it involves the removal of a few cells (biopsy) from the embryo and analysis of the genetic material (DNA) from these cells. PGT is used to obtain the genetic profile of embryos with the ultimate goal to transfer a genetically normal one.

There are three types of PGT:

1. Preimplantation Genetic Testing for aneuploidy (PGT-A)

This test detects numerical chromosomal abnormalities (aneuploids), in cases where there is an extra or missing chromosome. PGT-A is indicative for individuals who are already carriers of a chromosomal abnormality (such as Down, Turner and Klinefelter syndromes), and they want to become parents. PGT-A can also be applied in older women, as the woman’s age has been associated with Down syndrome, or in cases where a couple already has a child with an abnormality.

2. Preimplantation Genetic Testing for monogenic diseases (PGT-M)

This test detects the presence of a mutation or alteration in a specific gene, which is responsible for a genetic disorder. PGT-M may be suitable for couples with a family history of a monogenetic disorder (such as sickle cell disease, cystic fibrosis, Tay-Sachs disease, β-thalassemia) and are at risk for passing it on to their offspring.

3. Preimplantation Genetic Testing for structural diseases (PGT-SR)

This test detects structural chromosomal abnormalities such as duplications, deletions or switches in chromosomal areas and it can be used in cases that a candidate parent has a diagnosed structural abnormality.

There is no doubt that these technologies offer exciting new opportunities. However, they should always be applied in an ethically responsible manner. If no ethical lines are drawn, it is difficult to prevent the use of these technologies for non-medical purposes. Do not hesitate to address a fertility specialist at Embryoclinic to discuss your options. They are available to explain the benefits and the limitations of preimplantation genetic testing and provide objective guidance to couples.

About the author

EmbryoClinic is a state-of-the-art fertility clinic located in Thessaloniki, Greece. The IVF unit boasts highly experienced staff who use the latest technology in a purpose-built assisted reproduction clinic. The staff at EmbryoClinic aim to provide a comfortable environment whilst guaranteeing patients that they will receive the best treatment.

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