Eve Feinberg, M.D., an obstetrician-gynecologist in Chicago, Illinois, talks about using pre-implantation genetics diagnosis, or PGD, during invitro fertilization to screen for medical diseases in embryos before conception.
Interview conducted by Ivanhoe Broadcast News in June 2016.
PGD, explain what that is.
Dr. Feinberg: Pre-implantation genetics diagnosis is where we take an embryo and we take several cells out of the embryo and have the ability to test them for the presence of a certain disease.
Explain why parents would want to do that.
Dr. Feinberg: There are some diseases that will cause significant medical problems in a baby. By testing the embryo before implantation we have the ability to tell whether or not that baby would be affected with the disease. We use PGD to prevent transmission of deadly or of serious medical diseases to a newborn.
How long has it been around?
Dr. Feinberg: I think it was Sickle Cell first PGD case. 1989.
So pretty recent.
Dr. Feinberg: The first baby that was born after pre-implantation genetic diagnosis was in 1989 so it is relatively new technology.
Has it grown since then?
Dr. Feinberg: The application of PGD over the years has tremendously increased. As we’re now able to screen and test for more diseases we’re able to screen and test for more diseases in the embryos as well.
It sounds like it has a potential to get bigger as the genetic testing comes along.
Dr. Feinberg: Absolutely, as genetic testing becomes more popular PGD is going to increase as well.
In the case of Jen and Pete talk about their case.
Dr. Feinberg: Jen and Pete were completely unaware that they both carried the gene for polycystic kidney disease. In a recessive disorder both parents have to be carriers and then there’s a one in four chance that they would have an affected child. Jen and Pete were completely unaware that they were both carriers and they were completely unaware that Sophie was affected. It was only during pregnancy they discovered some abnormalities with Sophie on ultrasound. That led to premature delivery and then after Sophie was born they realized the seriousness of the disease and she passed away at twelve hours. It was only after that, that they were able to do genetic testing to find the gene that caused Sophie’s disease. We then used PGD technology to identify the gene of interest in the embryos that we created. Jen and Pete even though they didn’t have infertility used IVF technology in order to conceive. Then we took the embryos that we created, we tested those embryos for the presence or the absence of the gene for polycystic kidney disease and then we transferred an embryo back to Jen that was unaffected.
Kind of explain what that piece of mind does for parents.
Dr. Feinberg: I think it’s priceless. It does come obviously with cost; the technology that we use is expensive. The genetic testing, the invitro fertilization but the ability to know from the get go that your baby is unaffected and has a higher likelihood of being healthy is amazing.
They were saying one in four and given those odds if they didn’t have this option they probably wouldn’t have tried again.
Dr. Feinberg: Couples who both carry a genetic disease have a one in four chance of having an affected child. This then leads them to some tough choices. They can decide to chance it and twenty five percent of the time they will have another affected child. They can give up they can say that they’re not going to pursue child bearing through conventional means or they can use IVF technology with pre-implantation genetic disease to avoid transmission. The ability to use IVF with PGD to avoid transmission is priceless.
I think it’s interesting you always think of IVF for couples who can’t conceive and it’s now starting to shift focus it seems like.
Dr. Feinberg: The application of invitro fertilization technology is increasing and so we are seeing more and more couples who are affected with genetic diseases using IVF technology in order to create babies that are unaffected with disease.
Like Pete and Jen explain how tough that is especially when you’re going through pregnancy knowing that there’s a chance that your building a nursery for a baby that may not come home.
Dr. Feinberg: I think it’s probably one of the toughest things that a couple will face is knowing that they’re carrying a baby who may not survive after birth. I can’t imagine the pain and the heartbreak of knowing that your child is going to be born with significant medical diseases. IVF technology will allow us, while it’s not perfect, it will allow us to screen for certain diseases or to test for certain diseases that couples may carry to increase the likelihood of having an unaffected child. The emotional grief, the emotional heartache, the emotional trauma can really be minimized by this technology.
You had talked about the cost, what does something like this cost?
Dr. Feinberg: IVF with PDG can be expensive, we are fortunate in Illinois that we are a mandated state and so infertility coverage is part of state law if your company follows the mandate. The cost of the IVF procedure itself is roughly eleven thousand dollars. The cost of the medication in order to stimulate the ovaries to produce multiple eggs is about three to five thousand dollars. The cost of the genetic testing is roughly five thousand dollars. All in all it can cost between eighteen and twenty thousand dollars for a single attempt.
If you think about it that seems like a lot less than healthcare bills later on.
Dr. Feinberg: Right, so if you look at the cost of creating an embryo or the cost of a pregnancy with IVF with pre-implantation genetic disease versus the cost of taking care of a child affected by that disease the cost of PGF is significantly less expensive. Particularly for diseases like Cystic Fibrosis that may lead to a lifelong illness for that child.
So the cost to healthcare in general?
Dr. Feinberg: It overall will decrease the cost of healthcare for that affected child.
How many parents have you done?
Dr. Feinberg: I don’t know how many couples I’ve taken care of who have had healthy babies in particular with pre-implantation genetic diagnosis for specific diseases. Probably take care of about ten different couples per year who are affected with various diseases.
How long does the process usually take?
Dr. Feinberg: From the day somebody walks into the office until they walk out pregnant, it can be anywhere from four to twelve months. There’s a lot of workup that needs to be done even for a couple that’s not infertile we want to make sure that the sperm count looks good, that the ovarian reserve or the agate supply is adequate and that the uterine cavity can carry or the uterus can carry a child. We do a bunch of testing at first to make sure that the couple is a good candidate for invitro fertilization. Once we’ve established that the couple is a good candidate for invitro fertilization, we then work in tandem with the genetic laboratory who fills the DNA probe so that they can identify the disease of interest. The building of the DNA probe can take anywhere from six to twelve weeks depending on the complexity of it. Once the DNA probe has then been built, the couple has to undergo invitro fertilization and what that requires is roughly ten to fourteen days of shots to stimulate the woman’s ovaries, a procedure to remove the eggs from the women’s ovaries and that’s called an egg retrieval. Then that same day we do a procedure called ICIS intracytoplasmic sperm injection to take the sperm and insert the sperm directly in to the egg. The embryo is then cultured in the laboratory for five or six days until it becomes what’s called a blastocyst. A blastocyst has two cell layers. One layer is called the trophectoderm and those are the cells that destined to become the placenta. That’s what we take out from the embryo. The other cells are called mass and that’s what becomes the fetus or the baby and we don’t disturb those. Once the trophectoderm cells are removed that embryo then undergoes a process called vitrification. It’s flash frozen so that the embryo is preserved and not destroyed in the process and it’s frozen until that embryo is ready for transfer. Those cells then go from the IVF laboratory off to a genetic testing facility. Some IVF centers have these in house but most use referenced laboratories. Those cells are then transported they are matched by embryos and put in different test tubes so we know which embryo goes with which cells. Those cells are then tested to determine the genetic makeup of each embryo and whether or not those embryos are then affected. We then get a readout from the genetic testing laboratory that literally says embryo one unaffected, embryo two carrier, embryo three unaffected. We also have the ability to look at chromosomes of each embryo. Often times we use technology called PGS or pre-transplantation genetic screening so that we’re making sure that we’re putting in a chromosome in a normal embryo in addition to the fact that it’s unaffected. The last thing we want to do is have a baby that has a chromosome abnormality like Down syndrome but it’s unaffected for disease. We then get the information from the genetic testing laboratory in terms of which embryos are appropriate for transfer. We then put the woman on some hormones to prepare her uterine lining to become nice and thick so that it can accept the embryo and then she undergoes a procedure called an embryo transfer. That’s the most magical part about the whole thing. We take an embryo we know which one it is and we place an embryo very precisely in to the woman’s uterine cavity. Then two weeks later we know whether or not she’s pregnant.
Jen was saying even though there’s a one in four chance she had twenty embryos and nine of them had—
Dr. Feinberg: The genetics play out in different ways every time. It literally is like flipping a coin.
What does that tell you though, would she have a higher chance of having a child with the same thing that Sophie had?
Dr. Feinberg: It doesn’t necessarily mean that she would have had a higher chance; it really depends on each egg and each embryo in terms of that combination. But not only did we look for Jens typically not only did we look at the embryos to see whether or not they were affected we also looked at the chromosomes of those embryos. They had a higher than normal number of embryos that were chromosomally abnormal making their case a little bit more challenging.
So she is pregnant again and I hear she has two more embryos left that she can possibly use again.
Dr. Feinberg: Right. We do have a surplus of embryos that they can use in the future for a second baby.
Whenever you’re talking about IVF and genetics stuff like this there’s always a little bit of controversy surrounding it. Can you address some of that?
Dr. Feinberg: Certain religions have moral or religious opposition to having fertilization take place outside of the body. Many of the controversies surrounding invitro fertilization have to do with the basic science of the technology itself. I think with everything we do there are always some opponents of the technology. It does have this slippery slope phenomenon where people are worried that if we have the ability to screen for diseases are we down the road going to have the ability to screen for things like hair color, eye color and other traits that may not be medically necessary. I think in the case of medical diseases the application of this technology is brilliant. I think that with anything that we do we have to be cautious in making sure that the technology is not used inappropriately.
END OF INTERVIEW
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