IVF Genetic Testing: Understanding Your Options

Mariana

How long has it been since genetic testing came about?

Dr. Kofinas

Genetic testing started to develop between 2011 and 2013. Genetic testing started to take off around the time egg freezing became more popular as an elective procedure instead of what it was originally created for, which was cancer patients going through chemotherapy or radiation. So this time period saw a lot of advances.

But genetic testing advanced quickly with the technology where we became able to see deeper into the genome, and therefore feel more confident with the result. Now, genetic testing has been a little stagnant. I don't know what the next major advancement will be in terms of genetics. I can tell you that embryo selection has significant improvements in terms of artificial intelligence usage in combination with genetic testing or avoiding genetic testing and instead using AI to select an embryo that might be genetically normal.

Some people believe that if you biopsy the embryo, you can harm it. Other doctors say that's ridiculous. I’m in the camp where we like to genetically test embryos. So I think with regards to the advances in genetic testing, even though they've slowed a little bit, the ultimate goal is to improve embryo selection and use the best embryo first.

We’re also focusing a lot more on the patients themselves and seeing if we understand what's going on to improve the uterine side of things so implantation can be more successful.

Mariana

I’m at the egg retrieval phase where I won’t know until– if– I need to use my eggs. Could that technology advance so that we know the quality of the eggs we retrieved at the time?

Dr. Kofinas

The problem with testing eggs is that they are a single cell. So you can't really genetically test them because then you've damaged the cell completely. There were a few studies back in the day where they were looking at DNA that had been sent out of the cell or the polar body. Interestingly, they found that if an egg was genetically abnormal, you could still develop a normal embryo from it. So genetically testing eggs was abandoned.

They're trying to qualify the way an egg looks again with artificial intelligence so they can give some information on quality to the patients. But I can tell you that I personally don't think you can predict anything with an egg except that it's mature and that it has the chance to fertilize.

Mariana

This is fascinating, and relates back to everything we’ve discussed about optionality for the future. I had a family member in Mexico who went through IVF 20 years ago and ended up with triplets, because she had three embryos transferred. All that's shifting, too, right?

Dr. Kofinas

So that was a major problem, because with multiples, deliveries would happen early and sometimes there could be deficits in the children because we didn't have the technology back then to properly support a baby born at 29 weeks. So the ability to select a genetically tested embryo that would give you the same chances of success that you would have if you transferred three or four embryos without genetic testing is better. As a result, we get the high success rates without the complications. That’s a huge advancement in the fertility field that's felt downstream- not just in the IVF field, but in OB/GYN, pediatrics, neonatal outcomes.