“The goal of our project was to understand the genetic cause of female infertility and develop a method to improve the clinical prognosis of patients’ aneuploidy risk,” said Jinchuan Xing, an author of the study and an associate professor in the genetics department at the Rutgers School of Arts and Sciences.

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Based on this, researchers showed that the risk of embryonic aneuploidy in female IVF patients can be predicted with high accuracy with the patients’ genomic data. They also have identified several potential aneuploidy risk genes.

Genomic Information Has A Better Sense Of How To Approach Infertility Treatment

Researchers were able to examine genetic samples of patients using a technique called “whole exome sequencing,” which allows researchers to home in on the protein-coding sections of the vast human genome.

Then they created software using machine learning, an aspect of artificial intelligence in which programs can learn and make predictions without following specific instructions. To do so, the researchers developed algorithms and statistical models that analyzed and drew inferences from patterns in the genetic data.

As a result, the scientists were able to create a specific risk score based on a woman’s genome. The scientists also identified three genes – MCM5, FGGY, and DDX60L – that, when mutated, are highly associated with a risk of producing eggs with aneuploidy.

While age is a predictive factor for aneuploidy, it is not a highly accurate gauge because aneuploidy rates within individuals of the same age can vary dramatically. Identifying genetic variations with more predictive power arms women and their treating clinicians with better information.

Source: Medindia