Evaluating Preimplantation Genetic Testing for Aneuploidy to Predict Embryo Outcomes in Patients Undergoing Genetic Testing for Monogenic Disorders

What this Trial Is About

Researchers are evaluating whether testing embryos for chromosomal abnormalities, called aneuploidy, can help select embryos more likely to result in a healthy live birth. This study focuses on embryos from assisted reproductive technology ART that are already undergoing genetic testing for monogenic disorders PGT-M. The goal is to see if preimplantation genetic testing for aneuploidy PGT-A can reduce miscarriages and improve the chance of healthy births by avoiding embryos unlikely to succeed. This observational study does not introduce new treatments but collects data on aneuploidy from embryo biopsies and the spent culture media, the fluid in which embryos grow. Both sources of DNA will be analyzed to predict whether embryos will lead to live births. The study will compare these predictions to actual clinical outcomes, assessing the positive predictive value how often embryos predicted to succeed do so and the negative predictive value how often embryos predicted to fail do not result in live birth. Participants will undergo standard care with PGT-M biopsies, and additional samples may be collected before and after birth for further validation, including chorionic villus sampling, amniocentesis, fetal cells from maternal blood, and newborn DNA, though these are optional. Live birth data will be collected up to 10 months after embryo transfer. About 220 patients and 540 embryo transfers will be involved, with recruitment expected to take two years. The study aims to provide evidence on whether PGT-A should be used in clinical practice.

Danish Prognostic Research on Embryonic Diagnostics Involving Chromosomal Testing.