Management of Insertional Translocation Carriers for Preimplantation Genetic Testing and the Relevance of Sperm Analysis for Reproductive Risk Estimation.

Interchromosomal insertions (IT) are rare and complex structural rearrangements. Theoretically, the risk to have a child to term with a malformation or mental retardation can reach 50% related to the proportion of unbalanced gametes produced from behavior of chromosomes during meiosis. However, the meiotic segregation of IT has rarely been studied. This study provide an accurate reproductive risk of IT carriers resulting from a combined analysis of Sperm-FISH and preimplantation genetic testing for structural rearrangement (PGT-SR) management of IT carriers.