A collaborative team of scientists have developed a new whole-genome sequencing technique to detect spontaneous mutations in IVF embryos. [3dmentat/Fotolia]
Credit: 3dmentat/Fotolia

An AI algorithm was used in a global study to assess the genetic integrity of embryos through images alone. The algorithm was able to identify, most of the time, whether an embryo was genetically normal, or ‘euploid,’ meaning it has the normal human complement of 46 chromosomes. The findings were published in Human Reproduction this month.

Presagen’s Life Whisperer Genetics process is non-invasive, low-cost, and provides instant results. PGT-A, the standard method currently used to evaluate embryos for IVF, requires a potentially risky biopsy of the embryo, followed by an expensive and time-consuming genetic testing procedure. While the Life Whisperer technology is not as accurate as PGT-A, it can be used to prescreen embryos.

The study was conducted with IVF clinics including, Ovation Fertility (USA), IVF-Life (Europe), Alpha IVF & Women’s Specialists (SE Asia), and Wings IVF (India).  These clinics provided approximately 15,000 blastocyst-stage embryo images with results of PGT-A. A total of 5050 of these images were of embryos on day five of in vitro culture, and these were used for the AI model development. The images were made using static two-dimensional optical light microscopy.

Overall accuracy for the prediction of euploidy on a blind test dataset was 65.3%, with a sensitivity of 74.6%. When the blind test dataset was cleansed of poor quality and mislabeled images, overall accuracy increased to 77.4%.

Presagen’s chief medical science officer Sonya Diakiw explained “Because this assessment is based on images alone, it is not as accurate as PGT-A itself, which involves actual DNA sequencing. But we are finding that PGT-A results themselves can be variable, as they depend on the embryo sample being tested. PGT-A only tests 5 cells from a total of around 200, so it is not always representative of the entire embryo. Life Whisperer Genetics is a whole-embryo assessment of genetic integrity that does not require any invasive procedures, which can be used to prioritize embryos for use in IVF procedures.”

The technology was evaluated prospectively on patients in Europe in collaboration with the IVF-Life Group. Jon Aizpurua from IVF-Life said “Life Whisperer Genetics can be used for patients as a pre-screen, to ensure we only genetically test embryos that are likely to be normal, saving patients time and money. For patients who are not comfortable with invasive genetic tests, or in countries like Germany where invasive genetic tests are not permitted, Life Whisperer Genetics is a viable alternative to help select embryos that are most likely to be euploid.”

Prospective studies were also performed in collaboration with Alpha IVF & Women’s Specialists in Malaysia. Chief Embryologist Adelle Yun Xin Lim said “Computer vision with AI may revolutionize IVF treatment and this new technique is another milestone of AI in IVF. The technique will help doctors and embryologists around the world to predict the chromosome status of embryos in a rapid and non-invasive manner enabling the prioritization of embryos that are likely to be euploid for transfer or for further confirmatory PGT testing, leading to a faster time to pregnancy and reducing the cost of the treatment.”

Life Whisperer Genetics is already available for IVF clinics and their patients in over 40 countries globally. It can be used in combination with Life Whisperer Viability, which assesses if an embryo is likely to lead to a pregnancy. International clinical studies have shown that Life Whisperer Viability can perform better than embryologists’ current manual embryo assessment methods.

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