Danish Prognostic Research on Embryonic Diagnostics Involving Chromosomal Testing.

The study aim is to evaluate whether testing embryos for chromosomal abnormalities (known as aneuploidy) can aid in embryo selection. If so, transfer of embryos that will fail to implant, miscarry or lead to birth of affected children, can be reduces. This would reduce the risk of miscarriage and increase the chance of healthy live birth per embryo transfer, which in turn would reduce the time and economical, physical and psychological cost associated with fertility treatment. The method of genetically testing embryos for aneuploidy is know as preimplantation genetic testing for aneuploidy (PGT-A). It entails testing a biopsy from preimplantation embryos generated from assisted reproductive technology (ART) from which DNA can be analyzed. Another potential source of embryonic DNA is the spent culture media, the media in which the embryo has grown since the egg was fertilized with the sperm. Previous research suggest that the media contains DNA shed from the embryo during development. Hence, this a potential non-invasive way of obtaining DNA for PGT-A. Both embryo biopsy and spent culture media will be assessed in the study. The study will be conducted as a prospective, blinded, prognostic cohort study in a cohort receiving preimplantation genetic testing for monogenic disorders (PGT-M). Hence, the study does not include an intervention, as data on aneuploidy is collected but not used to guide embryo selections and embryos are biopsied as part of standard care (PGT-M). Once clinical outcomes from embryo transfers has been collected from the study, the aneuploidy data will be assessed. Blinded towards the actual clinical outcome, predictions on whether each embryo would result in live birth or not will be made based on the aneuploidy results. Following prediction, actual clinical outcomes are revealed allowing calculation of predictive values. Predictive values will be calculated for PGT-A on embryos biopsies and spent culture media. Two predictive values will be