For individuals with a chromosome structural rearrangement also called a translocation, PGT-SR (Preimplantation Genetic Testing for chromosomal Structural Rearrangements) can be performed to improve the chance of establishing a healthy pregnancy. PGT-SR involves testing embryos created through in vitro fertilisation (IVF) and then transferring only embryos with the correct amount of genetic material.
Chromosomal rearrangements, also referred to as a translocation, are changes from the usual size or arrangement of chromosomes. Many carriers of chromosome rearrangements are healthy and may not become aware of their carrier status until they try to have children. Individuals with chromosome rearrangements have an increased risk of producing embryos with the incorrect amount of genetic material, which typically do not lead to a successful pregnancy.
For people with a chromosomal rearrangement, PGT-SR can help identify embryos with the correct amount of chromosomal material that are most likely to lead to a successful pregnancy and healthy live birth.
Not necessarily, there are several possibilities for each pregnancy:
Therefore, it is usually possible for a person who carries a chromosome rearrangement to have healthy children, and many do. As each rearrangement is unique, carriers would have to discuss their particular situation with a genetic counsellor or their healthcare provider.
In most cases the testing can be done using the same technology and process as PGT-A. If, following review of the karyotype, it is not possible to use PGT-A technology, the PGT-M process may need to be followed. This will be discussed on a case-by-case basis.
It is important to note that PGT-SR cannot distinguish between a balanced carrier of a structural rearrangement and a non-carrier.
Yes, scientific studies have shown that embryo biopsies do not add risk factors to the health of babies born after IVF.
No test can guarantee that a baby will not have any medical issues. PGT-SR does not test for all genetic and non-genetic problems that may be present in a baby. It is important to also note that PGT-SR cannot distinguish between a balanced carrier of a structural rearrangement and a non-carrier. Genetic counselling is recommended.
This will depend on the process followed. Most PGT-SR cases follow the same process as that for PGT-A, in which case results will be released to your doctor in 7 to 10 working days from the day of sample receipt in the Next Genetics laboratory.
If PGT-M is required, then the whole process can take up to 4 to 5 months before results will be released to your doctor.
No, unfortunately medical aids do not currently cover PGT-SR.