Balanced chromosomal rearrangement in a partner revealed after Preimplantation Genetic Testing for Aneuploidies (PGT-A)

In general population, it is estimated that 1/560 -1/1100 of the individuals are carriers of a balanced structural alteration and, in general, do not present an abnormal phenotype. For patients who have balanced rearrangements, a family planning alternative is to perform an In Vitro Fertilization (IVF) cycle with the embryonic analysis by Preimplantation Genetic Testing for Chromosomal Structural Rearrangements (PGT-SR). This test aims to reduce the time to obtain a healthy chromosomally pregnancy, to minimize the risk of miscarriage and a live birth with a chromosomopathy. The present work reports a case in which the couple had a history of implantation failure and biochemical pregnancy. They had not performed the karyotype exam to verify the parents’ chromosomal content. After two embryo transfers without achieving pregnancy, the couple was directed to the Preimplantation Genetic Testing for Aneuploidies (PGT-A). The result presented in PGT-A in the couple’s first cycle using the embryo selection technique showed recurrent segmental aneuploidies the trophectoderm biopsies. The couple was given genetic counselling, and they decided to investigate their karyotype, which showed a balanced chromosomal rearrangement in one of the parents. With this investigation and genetic counselling, it was possible to apply the correct embryonic analysis strategy, which contributed to a healthy pregnancy and birth with a living child.