PGT-SR (Preimplantation Genetic Testing for Chromosomal Restructural Rearrangements)

Chromosomal Translocations Are Rearrangements Of The Chromosome Structure That Can Cause Infertility

Reprogene offers PGT-SR for a wide range of chromosomal rearrangements. This includes Robertsonian and Reciprocal translocation, Pericentric and Paracentric inversions. We can detect these translocations and/or inversions by utilizing a higher resolutionNext Generation Sequencing (NGS). With PGT-SR, only those embryos that are considered normal are taken for transferring to ensure a healthy pregnancy.

You may consider PGT-SR for chromosomal translocations if you had a child or pregnancy with a chromosome rearrangement or if you or your partner are a carrier of an:

Inversion

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 number of inversions. But the size and position of the inversion can affect pregnancy.

Reciprocal Translocation

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 pass 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

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.