Screening for sickle cell and beta thalassaemia
Pre-implantation genetic diagnosis
People who discover before starting a family that both partners are carriers have several options. They may choose to stay together but not to have any children. They may decide to separate and find a different partner. They may choose to stay together and have prenatal diagnosis in each pregnancy to check if the baby is affected. Or they may decide to go ahead with having children without prenatal diagnosis, and accept what comes. See 'Telling people you are a carrier - implications for relationships and marriage' for people talking about these choices.
A new possibility for people who want to stay together but do not want to consider prenatal diagnosis and termination is pre-implantation genetic diagnosis (PGD or sometimes PIGD). This is a procedure where the woman's eggs are fertilised by her partner's sperm using in vitro fertilisation (IVF), a procedure normally used to treat infertility. Before the embryos are placed in the mother's womb, they can be screened for genetic conditions. The aim is to ensure only those embryos which are not affected by a sickle cell disorder or beta thalassaemia major are implanted. The success rates for this technique have been improving in recent years, but costs are high and it is still considered an experimental procedure which will not work for all parents. One mother we talked to said that a counsellor had mentioned PGD as a possibility for future pregnancies, but this was unusual.
Some people have ethical concerns about destroying embryos which are found to be affected. One mother described how a friend felt PGD was her only option, despite her religious views. She could not bear to have a second child affected by sickle cell.
A friend plans to have preimplantation genetic diagnosis, and has asked God's forgiveness. [Une amie va avoir le diagnostique génétique de préimplantation, et elle a demandé pardon à Dieu].
A friend plans to have preimplantation genetic diagnosis, and has asked God's forgiveness. [Une amie va avoir le diagnostique génétique de préimplantation, et elle a demandé pardon à Dieu].
Yes, yes. Very important decisions. But as I said, I was talking from my religious conviction. I have a friend, not to name anyone, but with whom I'm very close, who has a child who has lots of problems with sickle cell. But for her it, it's, she's now reached the point, because that's happening now, where she's going to have in vitro fertilisation. So that they'll be able to see before they implant the embryos if any of them are ill or not. Yes, she's got to that point. She says, '[Own name], I've asked God's pardon and I'm going ahead with it.' She says, 'With the one that I have, I can't do it any more. And I don't have the courage, I wouldn't have the strength to cope with a second one.' It's personal. But everything comes down to information, and with information you can find solutions.
French original:
Ah oui. Oui, oui, des décisions très importantes. Mais bon, comme je disais, moi je parlais de ma conviction religieuse. J’ai eu une copine - pour ne pas citer les gens - mais avec qui je suis très proche, qui a un enfant qui a beaucoup de problèmes aussi de drépano. Mais elle, c’est systématique, elle est partie à un point maintenant - parce que ça se fait maintenant - où on fait l’insémination In-Vitro et qu’on peut déjà voir avant d’inséminer si l’enfant va être malade ou pas. Oui, oui. Elle en est arrivé là. Elle dit, ‘ [own name], j’ai demandé pardon à Dieu, et je continue.’ Elle dit, ‘Avec une que j’ai, je n’en peux plus et je n’aurais pas le courage, je n’aurais pas la force de supporter un deuxième.’ C’est personnel. Mais tout est au niveau de l’information, et que avec l’information on arrive à trouver des solutions.
A Roman Catholic couple from Italy got married knowing they were both beta thalassaemia carriers but hoping that modern techniques such as PGD would still enable them to become parents. They did not want to have a baby affected by the condition, particularly because his sister died of beta thalassaemia major aged 30. (See 'Seeing other family members/friends' experiences'). Although the Catholic Church opposes PGD, they themselves felt it was not an 'un-Christian' thing to do.
They see pre-implantation genetic diagnosis as a responsible way to protect their future child's health. They do not feel it is in conflict with their Christian beliefs. (Read by actors.)
They see pre-implantation genetic diagnosis as a responsible way to protect their future child's health. They do not feel it is in conflict with their Christian beliefs. (Read by actors.)
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.
They were the only couple we spoke to who had tried PGD. They had done all their own research into the technique and had very little help from their local health service. Their GP said he could not refer them on the NHS so they found the name of a specialist in Italy who accepted them onto a treatment programme. Even then, they found it difficult to get some of the necessary tests and examinations done in England. They feel PGD is wrongly associated with 'designer babies', when it should be seen as a way to prevent serious illness and suffering.
Their GP gave them little help in getting tests done or finding information. They feel PGD is seen as an expensive luxury, rather than a way of preventing a serious illness. (Read by actors.)
Their GP gave them little help in getting tests done or finding information. They feel PGD is seen as an expensive luxury, rather than a way of preventing a serious illness. (Read by actors.)
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.
Even when they were accepted onto the programme in Italy, they had to wait for over a year for a particular piece of laboratory equipment to become available to analyse the cells from the embryo. Sadly, none of their embryos turned out to be suitable for implantation.
The laboratory staff could not be sure that any of the embryos were unaffected. The couple had already decided that if this happened they would not implant any of them. (Read by actors.)
The laboratory staff could not be sure that any of the embryos were unaffected. The couple had already decided that if this happened they would not implant any of them. (Read by actors.)
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.
Shortly after their first attempt, the Italian government passed a law making all pre-implantation screening of embryos illegal. At first the couple had hopes they might be able to have an experimental new technique in which the unfertilised egg is screened rather than a fertilised embryo. They hoped this would be exempt from the law, but in fact it is also now illegal in Italy*.
However, since then they have discovered that they may now be able to have PGD in the UK, so they hope to try again.
Anyone considering this treatment should talk to their GP to go through the options available. The GP can also refer people to see a specialist at your local hospital or fertility clinic although PGD isnt always availble on the NHS.
Last reviewed December 2018.
Last updated December 2018.
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