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PGT-SR
It allows the transfer of healthy embryos, increasing the chance of proper implantation and the birth of a healthy baby.
PGT-SR(Preimplantation Genetic Testing for Chromosomal Structural Rearrangements) is a genetic test for structural rearrangements of chromosomes. It involves evaluating the genetic material of embryos created during the in vitro procedure. PTG-SR identifies embryos that have the correct amount of genetic material and those that have extra or missing genetic material resulting from translocations or rearrangements in the chromosomes. The selection and transfer of healthy embryos increases the chance of proper implantation and the birth of a healthy baby.
The Gyncentrum Genetic Laboratory has state-of-the-art human genome sequencing technology for testing embryos. It makes it possible to detect, at a very early stage of embryo development, chromosomal abnormalities with unprecedented accuracy. At the Gyncentrum Genetic Laboratory, in addition to PGT-SR, we also perform other preimplantation genetic tests, including: PGT-A, niPGT-A, PGT-M and Karyomapping.
ABOUT THE STUDY
What is PGT-SR all about?
PGT-SR involves screening embryos for various types of chromosomal translocations. In order not to disturb the embryonic node from which the fetus develops, the embryo’s DNA is extracted from the trophoectoderm – that is, the part from which, among other things, the placenta will develop in the following weeks of pregnancy. The extracted material is first properly preserved and then goes for genetic analysis. The test makes it possible to select a healthy and most promising embryo for transfer. In this way, we can increase the chance of getting pregnant and giving birth to healthy offspring and reduce the risk of miscarriage.
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Who should take the PGT-SR test?
PGT-SR preimplantation diagnosis is dedicated to patients who are carriers of balanced translocations (that is, rearrangements of genetic material in chromosomes, with a conserved amount of this material). Carrying a translocation increases the risk of losing a pregnancy and giving birth to a sick child. The test should therefore be considered especially if:
- you or your partner are carriers of a translocation/rearrangement of chromosomes,
- you have a child with a translocation/rearrangement of chromosomes,
- one or more pregnancies have ended in miscarriage,
- you have a history of unsuccessful in vitro procedures,
- you have a history of cancer therapy.
CHROMOSOMAL TRANSLOCATIONS
Where do chromosome translocations come from?
Translocations (translocations) of chromosome fragments are among the most common structural chromosomal aberrations. In a person who is a carrier of a balanced translocation, there are no visible symptoms. Problems arise only when such a carrier starts trying for a child. This is because his sperm / egg cells have an abnormal amount of genetic material. If fertilization occurs with such sperm / ova, the child will be burdened with a genetic defect or the pregnancy will end in miscarriage.
Find out moreThere are several types of translocations:
Balanced translocation: we refer to it when two fragments of two different chromosomes break off and swap places with each other. No loss of genes is observed during such a swap. The amount of genetic material is not affected, only its distribution changes.
Unbalanced translocation: we speak of it when the amount of genetic material, during the exchange of fragments of chromosomes, is changed. A fragment of a chromosome is missing or is added to another chromosome. This type of abnormality is already visible in the external appearance of the carrier and can cause disease symptoms.
Robertsonian translocation: it is a special type of unbalanced translocation, at the same time the most common in humans, in which changes occur within chromosomes 13, 14, 15, 21 and 22. In this type of translocation, a chromosome from one pair is almost entirely joined to a chromosome from another pair, a small number of genes are lost, copies of which are also present on other chromosomes. This translocation does not show up in outward appearance and does not cause disease symptoms.
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