A chromosome rearrangement refers to chromosomal material that is arranged in a different order than is usual. Individuals who are carriers of a balanced rearrangement have a higher chance to pass on extra or missing genetic material to their embryos, leading to an increased risk of reproductive problems such as infertility, miscarriage, or the birth of a child with health problems such as birth defect or intellectual disability associated with extra or missing genetic material. If one or both members of the couple are carriers of an apparently balanced structural chromosome rearrangement, then PGT-SR can be performed.
PGTseq-SR at the FEC is performed via targeted next generation sequencing (tNGS) and determines if the embryo biopsy samples have extra or missing chromosome material (unbalanced translocation). PGTseq-SR testing includes PGTseq-A.