New Recommendations for Robertsonian Translocation Management After Preimplantation Genetic Testing of Structural Rearrangement (PGT-SR) Attempts: What Should Be Done With Mosaic Embryos? [post]

Reda Zenagui, Izabel Bernicot, Cendrine Ciabrini, Alice Ferrieres Hoa, Christel Castelli, Noemie Ranisavljevic, Tal Anahory
2020 unpublished
Robertsonian translocation (RT) carriers are phenotypically normal, but they are known to be at increased risk of repeated miscarriages compared with the general population estimated at about 15% of pregnancies, and also resulting in the birth of a child with a mental retardation or congenital anomalies. Preimplantation Genetic Testing (PGT) is therefore a solution for RT carriers. An appropriate probe strategy allows to differentiate balanced embryos, unbalanced embryos, and mosaic embryos. We
more » ... mosaic embryos. We performed the first comparative analysis between two or three probes FISH strategies to analyze if a probe strategy choice for PGT-SR studies of Robertsonian translocations (RT) influences the fate of embryos? Our investigations present 13 years of experience of PGT for Robertsonian translocation carriers to improve the accuracy of abnormality detections. A deeper analysis of 283 PGT-SR attempts by comparing two strategies of probes highlighted the irrelevance of using a third probe for FISH diagnosis and above all a significant difference of mosaic embryo rates between probe strategies. These findings could be used as new recommendations of Robertsonian translocation management in many laboratories to improve their practices. It could be readily run, less expensive, reliable and accurate. Furthermore, the propounded strategy of mosaic embryo transfer should be considered after a detailed genetic counseling.
doi:10.21203/ fatcat:oezfl3wpszgrte3ia5zngtgsgu