Preimplantation genetic testing – General information

Preimplantation genetic testing is a modern technique designed to screen healthy embryos before implantation into the uterus. The technique applies only to specific cases where there is a risk that the child inherits a disease and is considered as a complementary solution to the prenatal control.

Various diseases, such as muscular dystrophy (Duchenne syndrome), Mediterranean anemia, cystic fibrosis, haemophilia and various diseases due to chromosomal abnormalities can be detected by this method and only embryos that do not show the disease can be selected for embryo transfer.

This technique involves obtaining and analyzing genetic material from each embryo that is a candidate to be transferred. Genetic material is obtained by the removal of a cell or several cells from each embryo. Then, the genetic material is examined in order to detect any diseases.

Preimplantation genetic testing is performed only in specific cases where there is a detectable genetic problem and the couple consults the geneticist, physician and embryologist who will deal with the particular case.

The embryo biopsy is an invasive procedure and may reduce the embryo’s implantation potential. This largely depends on the experience of the embryologist handling the embryos. This is the main reason why interested couples should approach clinics where scientific staff have years of experience.

In addition, although the sensitivity of the method is particularly high, there is a still a possibility that a clear diagnostic result may not be achieved.

The advantages of this method are particularly important for couples experiencing a genetic disease. More specifically:

The law stipulates that preimplantation genetic testing and gender selection can only be used by couples who are at risk in transferring to their child a serious disease.

The procedure involves the written consent of the couple and the provision of genetic counselling by an IVF unit.