PGT-SR is a genetic test designed for people with structural chromosomal rearrangements to check whether their embryos have a balanced, standard number of chromosomes. This ensures that only balanced embryos are used, maximising the chance of a healthy pregnancy. A small sample of each embryo’s cells will be taken and examined.
Some people have the correct number of chromosomes, just in a slightly different arrangement. This is known as balanced translocation or chromosomal inversion. These people are healthy, but they do have a higher chance of passing on an unbalanced number of chromosomes to their children. This can lead to miscarriage or a child who has health and development issues.
PGT-SR may be a beneficial part of your fertility treatment if:
PGT-SR looks specifically at the structure of the embryo’s chromosomes, which differs from PGT-A (a broader screening process that looks at an embryo’s overall genetics) and PGT-M (which assesses for specific genetic conditions inherited from the parents or evident in the family history).
When going through IVF, genetic testing provides us with more information about the health of your embryos and helps us to ensure a greater chance of your children not developing a chromosomal condition. Using PGT-SR can provide some peace of mind and assurance during your fertility journey.
Once your embryos have been biopsied, it will take around 5 to 6 weeks for the results to be ready. You’ll have an appointment with your specialist to discuss the results and go through the recommended next steps.
Results will be reported as either ‘balanced’ or ‘unbalanced’. Embryos with unbalanced chromosomal rearrangements will be discarded.
It is possible that testing will identify that all embryos are unbalanced and, therefore, not viable for transfer. If this happens, we can help you to move forward with other options and pathways.
In some cases, PGT-SR testing will not lead to a full result. This occurs when the cell sample we collect for the biopsy does not represent the cells of the whole embryo.
While PGT-SR is around 98% accurate, results may vary depending on the specific structural rearrangement being tested. It cannot give us absolute certainty about the health of the embryo, but it does provide us with the best assessment of chromosomal structure.
By testing your saliva or a blood sample in a simple procedure, we can screen for hundreds of potential genetic conditions and identify how likely you are to have a baby with different conditions. We’ll support you with clear information and a comforting hand as you plan your next steps.
Chromosomes carry all of an embryo’s genes, and aneuploidies are abnormalities in a cell’s number of chromosomes, which can lead to negative pregnancy outcomes. PGT-A testing ensures that only embryos carrying the correct chromosomal number are transferred to the uterus during fertility treatment.
PGT-M is used to check whether there are any specific mutations in an embryo’s genetics, typically when there is a known condition that runs in the family of one or both parents. We can check whether that condition appears present in the embryo prior to implantation.
To best understand your current fertility situation, we take a complete medical history from each patient, before getting a sense of your lifestyle, general health, and how long you have been trying. We can assess your fertility health and help create the right program for you.
Using a simple blood test, we can measure your level of anti-Mullerian hormone (AMH), which tells us how many eggs you still have in your ovaries (known as your ‘ovarian reserve’). This helps us understand your level of fertility health relative to the average for your age.
The main difference is the time when the test is conducted. Genetic screening is typically conducted before falling pregnant (though it can be completed after) and is used to assess whether any prospective parents or donors are carriers of one or more genetic disorders. By contrast, genetic testing is used to assess whether any genetic conditions are present in a specific embryo. This can be done before pregnancy through PGT or during pregnancy through CVS (chorionic villus sampling) or amniocentesis.
While all three involve genetic testing of embryos, they each assess for different things. PGT-A is used to assess whether an embryo has the correct chromosomal arrangement, with that information used to identify whether the embryo is at risk of a broad range of genetic conditions. PGT-M is used to assess for markers of a specific genetic disorder when one or more of the parents are known to be a carrier. PGT-SR is used to assess whether an embryo’s chromosomes are balanced when one or more of the parents have a known structural chromosomal rearrangement.
These are the two most common balanced structural rearrangements. Translocations are structural chromosome abnormalities that occur when different chromosomes break and then re-join in a different order. They can be further broken down into reciprocal translocations (when two different chromosomes break and exchange segments with no loss or gain of genetic information) and Robertsonian translocations (when two chromosomes join to form one larger one). Inversions are when a single chromosome breaks in two places, and this segment is flipped and reinserted in the same position upside down.
PGT-SR may be worth considering if you or your partner have a confirmed diagnosis of structural rearrangement (translocation or inversion), or you or your partner has previously had a child or pregnancy with a chromosomal structural rearrangement.
If you would like to understand this further or believe it is something you should potentially undertake, book an appointment with a fertility specialist at Create Fertility to discuss the process in detail.
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