Screening for sickle cell and beta thalassaemia

Video and audio clips read by actors.

Man' I just feel for me like I feel for other people. I do leave the individual to deal with all these issues. And if I'm against abortion, or I don't want to proceed, it's very personal and it's my choice. And even if I disagree, I entirely respect someone else that wants to go down other avenues. And what I strongly feel about it is that that should be available for everybody… Because I might be a believer, someone else may not be… I mean I'm firmly in favour of rules or procedures, very strict rules and procedures which have to regulate all this area… But, on this particular case, then I leave it to the individual. It's your conscience that decides. 

And in moral and religious terms for you the pre-implantation diagnosis is much more acceptable?

Man' Yes, but I mean not only for me morally but also physically. I think that there is quite a substantial difference if you are actually conceiving, you have conceived and you are going through the abortion without knowing - or you have tried to your best to avoid that possibility. I mean, here they advise that if you are pregnant you don't have to smoke, but no one tells you if you're getting pregnant and you know when you get a disease, to do everything you can to prevent it, in a very easy manner. So you take all the precautions. You're only doing it because first of all you want to protect and preserve the life, even, of who is the future being, of your offspring, and just like any other parent in any respect. So when I'm doing this procedure, I feel like I'm doing exactly the same. I'm trying my best not to smoke, not to do all these things that potentially we know could be harmful to the child.

Woman' And the same rule applies, not only for thalassaemia, if you have a condition and the only hope to save the child is bone marrow transplantation, or a number of operations which can be done can be improved by having a sibling or by being pregnant. And the general feeling is that somehow the church does not allow this. Because although you try the very best to save your child, why can't you try? If you can have any possible operation or replacement of an organ or whatever, to make one life better, why can't you do it with the help of for example a sibling, or with the help of technology? But not because you're worried about aesthetics. Because you're concerned about the health, because you want to try and give the best start in life for the child… And this is of course one of the questions which you just ask yourself over and over again. And that's why you do ask yourself, why is PIGD a better solution than just trying for it and then it may go well or it may not, and then you take the consequences, or you decide on the consequences, you decide on what you want to do. And in spite of being a practising Christian, and the church disagreeing with these decisions, that doesn't make me un-Christian, in the sense that just because I think I've got this belief, I hope it doesn't make me a bad person. 

And I just hope that I do it for the right reason and not because I've got great aspirations for the child. So that's the reason why. One friend of mine, actually, did ask me - I think it was when, after the negative result of the PIGD - she did ask me why would I go through this procedure when I would have to do an amniocentesis anyway, and if the test, if the diagnosis proved to be wrong and I was carrying an unhealthy child, I may have to choose the abortion, why would I not just try to get pregnant and then make that decision? Which, maybe in theory, is a very very good option in certain respects, but maybe because of my Christianity, because of my religion, I don’t want to have to decide whether I want to have an abortion or not, because that would be a really difficult decision.

Video and audio clips read by actors.

Woman'  Maybe I would have liked a bit more sympathy from my GP - try to help me, try to help us, in finding names or help with the tests. Maybe just bits of information - “Oh, maybe you could find out a bit from here, a bit from there, or maybe this will involve so much.” And instead he was a complete barrier.

Man'  There isn't, I wouldn't say awareness, but priority for the fact that having these screens for inherited diseases is prevention, basically, at the end of the day, in the crudest way that you want. Not because you want a perfect world where everybody's got to be perfect, but knowing of such devastating illnesses that you are aware and potentially are very, very high risk, then why not? If you want to make a comparison, if in your family there is a high incidence of, you know, breast cancer, then now it's acceptable, okay. The GP says, “Oh, okay, you can go and have this and that.”

So it's also the acceptance and the way that this is perceived. I think its seen that someone going to the GP to ask for genetic screening for pre-implantation is just like a sort of fancy thing, very expensive. Of course they always have to allocate resources and priorities, so they probably say, “Well, it's money better spent in treating someone with a cancer.” But generally at large, I wouldn't say that it's widely known. Maybe in the future it will be much wider availability and also acceptance on that.

Video and audio clips read by actors.

Man' The treatment actually went very well. They harvested seventeen eggs. Six were fertilised. Of the six embryos they chose five for the genetic screening, and it was one of those rare occasions when they had so many eggs to carry out the exams, on the five embryos that they actually chose to analyse, in none of them they had a conclusive answer. Then the sixth embryo as well, contrary to what they anticipated before, it developed to the eight cells. Anyway, in all of them there was a non-conclusive diagnosis, which was obviously something that luckily we'd discussed. 

Obviously when you enter into such a treatment, you don't really want to think about the possibility that they're not favourable, and so she says, what would we do if we were in that position? And so we actually decided beforehand what to do, because it would have been extremely difficult to make the decision there, you know, five minutes from implanting what you do, dealing with such a dilemma. And that was it. 

So they'd never had such a result before and she said, “I don't think that I will ever have something of this kind again in the future”, [laughs] because it was all against the odds. And anyway, we decided not to implant any, despite we were given the opportunity to implant all of them, six of them and then to see how many would actually, if there was a pregnancy, if it was a multiple pregnancy, and then to decide at a very, very early stage to do this test. 

I don't know if it's a particular form of amniocentesis, because they said they could do it the first eight weeks, and then have the abortions if needed. We didn't know beforehand all the technicalities of the various procedures. Because not even they anticipated anything like that. We also knew that if there was a successful implantation after a positive diagnosis, we would still have to go through the amnio and so on. 

Is it particularly difficult with thalassaemia to detect in pre-implantation screening?

Woman' It's even more difficult than sickle cell, and that was the reason why, when we first applied, that we had to wait such a long time to have the tests, the possibility of being admitted, because they were waiting for this particular piece of equipment to arrive.

Man' The technology to do it, so we actually had to wait for well over a year before they said, “Okay, we can try to go ahead.” Because they said, “Yes, we will do it, but when we have got the facility to do so”, which was forthcoming. They had already in place for other illnesses, but not yet for the thalassaemia.

Woman' Thalassaemia has always been the most difficult, and not just here, but where we had it done, because of the need to have this specialist piece of equipment that would analyse the cells.