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 goal is to achieve a pregnancy that is unaffected by a structural chromosomal abnormality (translocation). Chromosome rearrangements can be inherited or can happen spontaneously. 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.
PGT-SR involves testing embryos created through IVF and then transferring only chromosomal correct embryos.
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 specialist. A child can be born with a rearrangement although both parents’ chromosomes are normal. This is called a de novo or new rearrangement.