Question 1

My husband has balanced translocation. We did PGS and transferred the normal embryo but twice it failed. First time it didn’t implant and second tine there was no heartbeat. Was there something wrong in PGS result ? Is there any chance to get normal embryo in our case ?

Accepted Answer

First of all, I’m really sorry to hear this and read it. You normally have high expectations when you transfer a normal embryo. I’m thankful for your question because it is important to emphasise the distinction between PGS and PGD. What you went through is not really PGS. Although the technology is the same, the way the embryos were dealt with, the biopsy and the analysis are exactly the same thing. What you had was the pre-implantation genetic diagnosis. I would call it this way because you have a non-genetic issue. A non-genetic issue is the fact that your husband is a carrier of a balanced translocation. Having a balanced chromosome translocation doesn’t affect you because you still have a normal copy of all the genes that you need. The issue with having a balanced chromosome translocation is that the embryos that you produce will be a mix of normal embryos and abnormal embryos. But the vast majority of the embryos that you produce will be abnormal, regardless of female age. And because the vast majority of the embryos that you produce are abnormal, you are lot more prone to the failure of implantation and a lot more prone to miscarriages. So in my opinion, there is no doubt that in your case the biopsy and the chromosome analysis of your embryos is essential. Because without it, you subject yourself to the risk of miscarriages and a long period of time before you happen to have a normal embryo implant naturally. Now why your embryos did not implant and why, when it implanted, it did not go any longer than a certain stage and you had no heartbeat, that is a very difficult question to answer. Is it related to the fact that you had a biopsy on those embryos? Perhaps. As I said, there is a degree of concern as to what the biopsy causes to the embryos. At the end of the day, you remove a few cells from the layer of cells that needs to become the placenta and membranes. So you could perhaps hamper the implantation process and the formation of the placenta. But in your case it is important to look at other possible causes, the ones that have perhaps to do with what is happening with you. Do you have any uterine malformations? Do you have any circulating antibodies that cause an antiphospholipid syndrome?Do you have any issues with your clotting system? This is what your doctors and fertility experts should determine. I hoped that it answered your question.

Question 2

Is PGS always safe for a blastocyst or must an embryologist be very experienced to perform this procedure?

Accepted Answer

Again a brilliant question, thank you for that. You need to have your biopsy by an experienced practitioner. There is a recent study that showed that there is a significant difference in the outcome according to the experience of the practitioner. If the practitioner is really skilful, he or she will remove just about what you need for the sake of the chromosome analysis, 4, 5 or 6 cells. If the practitioner is not that experienced, he or she will remove 10 cells or so. That will have much more pronounced effect on the health of your embryos. If you go to the other extreme and you remove fewer cells than you ought to, you have failure of the amplification of the genetic material and you have inconclusive results. So the answer to your question is: you certainly need to have your biopsy carried out in the centre that has good practitioners.

Question 3

Is PGS indicated for IVF with egg donation, especially if the donor age is less than 30?

Accepted Answer

This is a good question because it illustrates the dilemmas in our field. If your donor is younger than 30 years old, chances are that the vast majority of embryos she produces are chromosomally normed. At the age of 31 or 32, the rate of abnormalities is estimated to be at around 30%. So there is a good chance that the embryos you are transferring are actually chromosomally abnormal. So you need to balance here the odds with the possibility that the biopsy will do more harm than good. And the question there is how many embryos do you have? And how many attempts have you had so far? So if it the first embryo transfer and if you have four blastocysts, my inclination would be just put the blastocysts back, do not inflict any possible damage on them by doing the biopsy and you will have the good chance that what you’re putting back is chromosomally genetically normal. But if you have had 2 failed cycles with the same donor, and you have another 6 or 8 blastocysts in the storage, then you might be starting to think ‘How many more embryo transfers am I going to do before I get the understanding whether the failures are to do with abnormal makeup of chromosomes or due to a different story?’ Well, the answer to your question is: ‘It really depends on your circumstances.’ I hope it answered your question but if not, then I will be happy to elaborate.

Question 4

We have transferred NGS tested normal embryo. However, it resulted as biochemical pregnancy. The explanation from our MD was that the embryo didn’t have enough energy. Do you think that it’s embryo related? Prior to the transfer, we have done ERA, uterus biopsy for NK cells and hysteroscopy just to ensure that our embryo will implant. Now we have done another cycle before moving to DE. We have 6 day3 embryos frozen from this cycle, we will make them to proceed to day5 and then transfer as a blast without NGS this time

Accepted Answer

Biochemical pregnancies are a difficult issue in our field. I have to be honest and tell you that we don’t completely understand why biochemical pregnancies happen. I think what your practitioner eluded to when he or she said that the embryo did not have enough energy was along the lines of the analysis of the mitochondria in the embryos and the eggs. Mitochondria are little structures that are found in any cell, they are the power plants of the cell. They produce the energy that the cell needs to maintain its processes and infrastructure. There is an observation that shows that eggs of older women have got fewer mitochondria. There is a theory that suggests that embryos can implant or fail to implant not only because they have a normal makeup of chromosomes or they have an abnormal makeup of chromosomes. You can test that when you do PGS. The issue there is that you can think about IVF as having your embryos put through a sieve. The first sieve is the morphology or the development in the lab. You have embryos that make it to day 3 and fail to make it to day 5. That’s the first sieve. And then you have a number of day 5 embryos blastocysts and then you can do a biopsy on them and see whether they have a normal makeup of chromosomes or they don’t. And as you could have learned in between the lines of my talk, you got to be lucky to be able to have one or two or three normal embryos, with the normal makeup of chromosomes that you can transfer. Now if you add another sieve, then you can have fewer embryos that are suitable to transfer. I am not sure to what extent the mitochondrial analysis of the embryos is a useful clinical tool. That’s the answer to my question. But it could be that the embryo that you put back did not implant because of that issue. It did not go beyond implantation because of the fact that it had biopsy. It could have to do with completely other factors. It would be very difficult to post a finger on a single factor and tell you that this is what might have caused it.
I think your decision is sensible. If you have 6 day 3 embryos, you need to see how it turns out and develops. It’s normally the case although sometimes we are really lucky and the outcome is really good. It’s normally the case that not all day 3 embryos become blastocysts. So you may end up with fewer than six blastocysts. And if you have two, three blastocysts, it is possibly the case that the better way of going about it is just to transfer.

Question 5

Going back again to my question regarding the balanced translocation, is our only hope to use donor sperm then?

Accepted Answer

No, absolutely not. The odds are that the vast majority of your embryos carry an abnormality. But you still make normal embryos. The ratio between the normal embryos and the abnormal embryos is unfavourable but you do still have a chance of ending up with a normal embryo. So it is really a question of resilience. I do not know where you are having your treatment but here in the UK a lot of what we do is self-funded. So there is the issue of financial resources. There is obviously the issue of emotional resources. This is emotionally taxing, it is difficult to go to a treatment. It is difficult to go through the phase that you wait for the biopsy results and then you put the embryo back and you wait for the result of the pregnancy test. Then you wait for the scan to see if there’s metal heartbeat. So this is mainly the question of how resilient you are: financially, psychologically, emotionally. But you do still have a chance of having a normal embryo found in this process and you do have a chance that this normal embryo will implant and end up with a healthy baby. I can tell you from my experience that I have treated lots of patients with balanced chromosomal translocation and in many of them we were successful. It’s a question of how many times you’re happy to try this.

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