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.