PGTSR
What is PGTSR
PGTSR is a specialized test designed to detect chromosomal abnormalities that involve structural rearrangements or translocations. These rearrangements can include pieces of chromosomes that are deleted, duplicated, inverted, or misplaced, which can lead to genetic disorders. PGTSR allows couples with a known translocation after a karyotype analysis (a test to visualise the structure of your chromosomes) to select embryos with the highest potential for developing into a healthy child without the specific chromosomal abnormalities being tested for.
The process involves a biopsy of the embryo to examine its chromosomal structure closely. By identifying embryos that are free of these structural rearrangements, PGTSR helps reduce the risk of passing on genetic disorders to offspring.
Who should consider it?
1 in 560 people have a balanced translocation which is about 0.18% of the population1. It is estimated that 14 million carriers exist worldwide which carry the risk of resulting in an unbalanced translocation in their next generation.
PGTSR is typically recommended for patients with these chromosomal rearrangements/translocations. It is also useful for couples who have experienced multiple miscarriages due to structural chromosomal abnormalities. PGTSR can identify and select embryos that do not have these structural issues, thereby improving the chances of a healthy pregnancy.
Patients might also consider PGTSR alongside Preimplantation Genetic Testing for Aneuploidy (PGTA) because chromosomal rearrangements can occur even without a known family history, due to de novo mutations.
What does the research say?
PGTSR has been an approved and well-established technique by researcher and professionals in the field for several years. It has helped many families by identifying embryos with chromosomal structural rearrangements, thereby reducing the risk of passing on genetic disorders and increasing the chances of a healthy pregnancy.
Safety
The process of PGTSR involves taking a biopsy from the embryos to test their genetic material, which can cause some stress to the embryo. The risk of damaging the embryos from the biopsy process is around 3%2,3, even though from our experience it is much lower.
myfertility’s take on PGTSR
PGTSR is a powerful tool that can help you identify embryos free from a known chromosomal translocation. We strongly advise consulting a genetic counselor when undergoing PGTSR. This can help you understand the potential outcomes and make the most informed choices for your family.
Additionally, because there is always a small chance of error, we recommend undergoing prenatal genetic testing during your pregnancy to confirm the results of PGTM. This approach provides an additional layer of reassurance for expecting parents.
It's important to consult with a fertility specialist to determine the most appropriate treatment for your specific situation.
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