Development of a novel, Preimplantation Genetic Testing Kit

Host Organisation: NIPD Genetics Public Company Limited
Partner Organisation(s): PA 1: Cyprus University of Technology PA 2: University of Cyprus
Project Budget: 283.097,42 €
IDEK Funding: 184.013,32 €

Preimplantation genetic testing (PGT) refers to the screening and/or diagnosis of genetic abnormalities utilizing genomic material obtained from fertilized embryos following in-vitro fertilization (IVF). Overwhelming data demonstrate that the great majority of preimplantation embryos are aneuploid and associated with high miscarriage rates and high risk of congenital birth defects. Furthermore, parents-carriers of inherited monogenic diseases or balanced translocations are also at risk of having an affected child. As these couples are phenotypically normal, they are often identified as carriers after having an affected child or multiple miscarriages. Thus genetic testing of preimplantation embryos is necessary to rule out the presence of embryo abnormalities, minimizing the chances of pregnancy complications and thus increasing healthy pregnancy rates.

Although significant efforts went into the development of comprehensive solutions for the detection of aneuploidies, structural rearrangements and point mutations the market is still in its infancy. NGS-based methods are being commercially introduced yet several limitations prevent the provision of a cost-effective, comprehensive, single test. By leveraging our in-house, proprietary and validated targeted capture enrichment assay and developing novel statistical models and bioinformatics pipelines, we are aiming to develop for the first time an innovative, robust, comprehensive PGS kit and an integrated visualization and analysis software for the ultrasensitive and accurate detection of chromosome aneuploidies, unbalanced translocations and monogenic diseases in a single test. We envision that our PGS solution will fulfil the needs of Health Care Providers for fast and reliable results while it will provide couples undergoing IVF access to a cost-effective, robust test to ensure healthy embryo transfer, reducing in one hand the adverse effects of IVF on the other hand improving the chances of a live birth.