To demonstrate the universality of Karyomapping, through a large series of preimplantation genetic testing for monogenic diseases (PGT-M) cases.

Analysis of real-life clinical data to build a robust guide for genetic counselling of PGT-SR patients, including information on the availability of embryos for transfer and cycle outcomes.

To assess the accuracy of Karyomapping for PGT-M through a retrospective analysis involving comparison with direct mutation and linkage analysis.

No test is 100% accurate. PGT laboratories should investigate reported concerns regarding specific PGT results. Outcomes of these investigations should be shared to communicate potentially preventable causes of discrepant PGT-A results.

Genetic recombination at the target gene can affect linkage-based diagnosis calls in preimplantation genetic testing for monogenic disorders (PGT-M). This study assesses potential increased risk for recombination in specific genes and/or chromosomes to provide guidance in genetic counseling to appropriately prepare families for anticipated PGT-M technical challenges and results of testing.