Method and system for performing non-invasive genetic testing using an artificial intelligence (ai) model

Abstract

An Artificial Intelligence (AI) based computational system is used to non-invasively estimate the presence of a range of aneuploidies and mosaicism in an image of embryo prior to implantation. Aneuploidies and mosaicism with similar risks of adverse outcomes are grouped and training images are labelled with their group. Separate AI models are trained for each group using the same training dataset and the separate models are then combined, such as by using an Ensemble or Distillation approach to develop a model that can identify a wide range of aneuploidy and mosaicism risks. The AI model for a group is generated by training multiple models including binary models, hierarchical layered models and a multi-class model. In particular the hierarchical layered models are generated by assigning quality labels to images. At each layer the training set is partitioned in the best quality images and other images. The model at that layer is trained on the best quality images, and the other images are passed down to the next layer and the process repeated (so the remaining images are separated into next best quality images and other images). The final model can then be used to non-invasively identify aneuploidy and mosaicism and associated risk of adverse outcomes from an image of an embryo prior to implantation.