Reprogene offers PGD for a wide range of chromosomal rearrangements. This includes Robertsonian translocation, Reciprocal translocation, Pericentric inversion and Paracentric inversions. We can detect these translocations and/or inversions by utilizing a higher resolution of array comparative genomic hybridization or fluorescence in situ hybridization (FISH) technologies. With preimplantation genetic diagnosis for translocation, only those embryos that are considered normal are taken for transferring to ensure a healthy pregnancy.
Below are the descriptions of the translocations and inversions:
De novo chromosomal abnormalities
De novo chromosomal abnormalities occur during conception, meaning that neither parent holds any abnormal genetic chromosome in the embryo. Children who have de novo chromosomal abnormalities are usually born with development and physical impairments. These abnormalities are random and cannot be screened by PGD.
Inversions occur when a part of the chromosome is inverted, spotted where there are two breaks within the same chromosome. Like chromosome translocations, if there is no gain or loss in DNA then the carrier is usually physically normal. Inversions are found when the carrier experiences infertility issues. It is, however, rare that inversions can cause infertility, as this usually requires a large amount of inversions. But the size and position of the inversion can affect pregnancy.
These abnormalities happen when two chromosomes exchange DNA with one another leading to abnormal chromosomes. A chromosomally unbalanced embryo will be produced if the parents passes on one of their abnormal chromosomes. This usually leads to miscarriage but in rare circumstances can lead to live birth with the child having physical issues. Reciprocal translocations are found in one in every five hundred in the population.
Robertsonian Translocation happens when two chromosomes are fused together, resulting in only one chromosome arm. Robertsonian translocations are usually found in females who are physically normal. The rate of this affecting the female population is one carrier for every one thousand healthy females. Eggs that have Robertsonian Translocation usually give their resulting embryos an extra chromosome.