Preimplantation genetic testing (PGT)

Preimplantation Genetic Testing (PGT) allows for the genes and chromosomes of an embryo to be studied prior to implantation in a woman’s uterus. The PGT method is used to help find a genetically healthy embryo for transplantation, to help increase the likelihood of the birth of a child Embryo testing is indicated for couples who have had multiple failed transplants, multiple missed / spontaneous abortions, or if the woman is over 37 years of age.

Preimplantation genetic testing (PGT)

The reason for the above may be the fact that the embryo is not chromosomally healthy, and therefore either fails to attach to the lining of the uterus (implantation), or a missed or spontaneous abortion takes place in the early stages of the pregnancy. As a woman ages, the likelihood of chromosomal abnormalities occurring in her embryos also increases.

Preimplantation genetic testing is also indicated for couples with a family history of genetic disease or who are themselves carriers of a genetic defect or chromosomal aberration. Pre-implantation testing of the embryo allows for a reduction in the number of failed artificial insemination (IVF) attempts, the number of missed abortions among IVF pregnancies, and increases the likelihood of pregnancy.

Pre-implantation genetic testing (PGT) of embryos is divided into:

Pre-implantation geneting testing for single gene disorders (PGT – M) previously called pre-implantation genetic diagnosis (PGD) is a method which allows for the embryo to be studied for a specific genetic disease. It is possible to distinguish whether an embryo is healthy, a carrier of a disease or sick. It must be known what is being investigated. The test helps to rule out the birth of a child with a serious genetic disease.

Preimplantation Genetic Testing for Aneuploidies (PGT – A) previously referred to as pre-implantation genetic screening, i.e. embryo screening (PGS) is a method that allows for the examination of embryonic chromosomes to rule out chromosomal changes. The parent’s chromosomes are in order. The test will help reduce the number of missed abortions and improve the likelihood of pregnancy by ensuing that only a chromosomally healthy embryo is transplanted into the uterus.

Preimplantation genetic testing for chromosomal rearrangements (PGT – SR) is a method which allows for the studying of structural changes in chromosomes (translocation) in the event that the parents are known to suffer from balanced translocations or deletions/duplications of chromosomes. The study helps to distinguish between embryos that have the same change and embryos that are chromosomally healthy. By implanting a healthy embryo back into the uterus, the chances of getting pregnant are greatly improved and the risk of spontaneous abortion is reduced.

How is embryo diagnostics performed?

Although some couples who need to have their embryos tested do not have any problems with pregnancy, in order for the embryos to be examined, it is necessary to undergo IVF, or artificial insemination. Sometimes multiple attempts are required. In this context, the inconvenience and possible side effects accompanying IVF treatment and the procedure must be taken into account. You will receive more detailed information when you visit your doctor for a consultation.

PGT-M, PGT- SR or PGT-A tests require a cell biopsy to be performed on the embryo. At our Centre, cells are collected from a 5-6 day old embryo or blastocyst. A total of 5-10 cells are collected with the aid of a laser from the trophoblast, the outer layer of the blastocyst. The collected cells are then sent to a genetics laboratory, where they are analysed. Until then, the embryos are frozen. Transplantation does not take place during the fresh cycle, instead the results of the test are awaited. Results will arrive in 2-4 weeks. Information will arrive on each embryo. Our geneticist will give recommendations on further embryo transfers.

Price of embryo diagnostics

PGT- A analysis is a paid service for the patient. The price depends on the number of embryos being analysed.

The price for PGT-M and PGT-SR is determined individually and depends on the specific case. In the case of PGT-M and PGT-SR, patients insured by the Estonian Health Insurance Fund can apply for support from the Health Insurance Fund for genetic analysis (the support does not extend to taking a biopsy).

Your doctor will provide you with more information on pre-implantation genetic testing, the cost and the price of the procedure, when you come to your appointment.

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