PGT-SR TESTING
PGT-SR identifies embryos without chromosomal imbalances, increasing the chances of a healthy pregnancy.
What is PGT-SR?
PGT-SR is for people 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.
Chromosome rearrangements
Chromosomal rearrangements are changes from the normal size or arrangement of chromosomes, which are the structures that hold our genetic material. People with chromosome rearrangements are at an increased risk of producing embryos with the incorrect amount of genetic material, which typically do not lead to a successful pregnancy.
The different types of chromosomes rearrangements:
In which segments of two chromosomes break off and change places.
In which a segment of a chromosome has reversed orientation.
Deletion is where a segment of a chromosome is missing.
Duplication is where there is an extra segment of a chromosome.
The aim of PGT-SR
The aim is to achieve a pregnancy that is unaffected by a chromosome imbalance due to the inherited structural rearrangement/translocation.
Chromosome rearrangements can be inherited or can happen spontaneously (de novo). Many carriers of balanced chromosome rearrangements are healthy and are unaware of their carrier status until they try to have children. Carriers of balanced rearrangements are at risk of producing embryos with the incorrect amount of chromosomal material, these embryos usually do not lead to a successful pregnancy.
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.
Are chromosome rearrangement always be passed on?
Not necessarily, there are several possibilities for each pregnancy:
- The child may inherit an entirely normal chromosome arrangement.
- The child may inherit the same chromosome rearrangement as the parent.
- The child may be born with a learning disability, developmental delay, and/or health problems.
- The pregnancy may end in miscarriage.
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 specialist. A child can be born with a rearrangement although both parents’ chromosomes are normal. This is called a de novo or new rearrangement.