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Screening for sickle cell and beta thalassaemia

Timing and delay

People have concerns about several aspects of timing in the process of screening and diagnosis, especially when tests are carried out, and when results and counselling would be available.

Several people said that, while they had valued the opportunity to have antenatal or newborn screening, it would be even better to have screening before pregnancy or even before entering a relationship with someone. (See also 'Telling people you are a carrier - implications for relationships and marriage').

 

Professional learning: She would have liked to know before pregnancy that she was a carrier.

Professional learning: She would have liked to know before pregnancy that she was a carrier.

Age at interview: 32
Sex: Female
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Were you ever offered screening in pregnancy?

No. No.

Would you have liked to have had screening in pregnancy, rather than after the birth?

' I'd like to have known before, before pregnancy. At the end of the day I had tests years ago which should have, I should have been told there and then, 8 years ago, whether I was a carrier or not, prior to having children, and then I wouldn't have had that risk, or that shock of finding out that my child is a sickle cell carrier. You know what I mean? It's a case of I'd have known that there was a maybe chance before having him, with all three of them. So, you know, it's a case of you find out 8 years later after you've had three children that you're a sickle cell carrier, and you've already purposely asked for the test. So.

I mean, what - it's hypothetical so it's a bit difficult to answer sometimes with these questions - but if you'd ever found out in one of the pregnancies that you were a carrier, what would you have been thinking then?

I'd have been concerned for my child's health. I'd have then had to make sure that the child's, the children's dad wasn't, because like you say you've doubled your chances* of having a sickle cell baby, and I don't think I'd want my child to suffer that. Because I know it can be a nasty thing to have to go through, and any pain's bad enough, never mind having to deal with it your whole life, having to go through anything your whole life. And if I could prevent it then I'd prevent. I mean, I don't know, because I don't agree on abortions. I personally - I don't, I don't criticise anybody for doing it - but me personally wouldn't do it. But I don't know what I would do in that situation. It's then something you've got to think about again, isn't it? It's like, if there was any way I'd have an abortion was through severe disabilities, but they'd have to be really severe. 

So then it's a case of, 'Well, what do I do?' What do you do for the best? So, at least now I know, if I do go and have more children I've got the chance to check out before I go anywhere and have any more. And that I can check my partner and make sure he's all right before, you know what I mean? I can really look into it before. I mean, I looked into having my kids anyway. It's not something you just, I just did off the spur of the moment. It was a case of, 'I'm ready for my children', and so it was a case of - yeah, I'd have to really look into it and make sure.

Footnote' If only one parent is a carrier there is no risk that their baby can inherit a sickle cell disorder. It is only if both parents are carriers that there is a 1 in 4 risk of having a baby with the condition.
 
 

Professional learning: It would be better if the NHS could screen people before they become...

Professional learning: It would be better if the NHS could screen people before they become...

Age at interview: 21
Sex: Female
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Video and audio clips read by an actor.

The big thing that - it's not like a regret - but I would have changed is that I wouldn't get pregnant at all if I knew that I was AS [sickle cell carrier]. Because I didn't know, my partner, if he was AS or SS [had sickle cell anaemia], so if I knew that I was AS before, I don't think I would have got pregnant. From not knowing what he is, I wouldn't get pregnant at all…. Because there's so many people out there that don't even know they're AS or SS. So I think they should just find, I don't know if they could find a way of screening people before, just to see what they are, people to know. Because it's too late when you're pregnant really, to find out you're SS, SC [have SC disorder], whatever. Because it's really too late. If they'll find a way of screening people, so people would know what they are, what they have beforehand. Because there's too many people out there don't know what they have, and then go and make babies, and the baby will be sickle cell. And then we'll just have more sickle cell babies, and then it'll just carry on and carry on and carry on till when?

Within pregnancy, several people said the earlier screening and diagnosis was carried out the better. 

 

Professional learning: In her current pregnancy, waiting the few weeks between discovering she...

Professional learning: In her current pregnancy, waiting the few weeks between discovering she...

Age at interview: 36
Sex: Female
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Well, since then, I've had two more children, but then I have a daughter with sickle cell, and that was nine years ago. Since getting pregnant - well, since I realised that I'm now pregnant - I'm about 17 weeks gone [at the time of the interview] - when I took the test and I realised that I'm pregnant, I decided to go through it all over again, to take the CVS. I talked to my partner about it for him to have his blood checked and it came out he's got sickle trait as well. So that leaves us no option but to arrange to have a CVS, which I've done. It wasn't particularly easy. I mean, the joy of every woman would be to be pregnant, and to carry on with your pregnancy, but then to, to be lumbered with a decision, with the thought that something could be wrong with your child, and along the way you might have to one way or the other not go through with that pregnancy can be very disturbing. 

For many nights you can't sleep, you're not focused, all you think about is what happens next. And with a CVS I think you need to wait for about 11 to 12 weeks for you to be able to take the test. [pause] It wasn't easy waiting for that long to have a test done when you already have [pause] a, a pregnancy growing, you're growing, with that pregnancy, you're seeing it everyday, you're like, [pause] it's not, it's very unsettling. But we eventually got the appointment to go for the CVS.
 

Some people felt they could only consider a termination if it was early in pregnancy, whether for personal, emotional reasons or for religious reasons. 

 

Professional learning: She wants diagnostic tests as early as possible in pregnancy, so she could...

Professional learning: She wants diagnostic tests as early as possible in pregnancy, so she could...

Age at interview: 31
Sex: Female
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Video and audio clips read by an actor, translated from Mirpuri.

You had testing for the younger two boys, and the girl…

I had testing for three of them, just not for the eldest son. And the second one who already has major, I was too late in getting checked that time round, but for two of them, I went for checks at the right time, within eleven weeks.

When you had testing for these two, if you would have found out that they had thalassaemia major…

…I would have had a termination, because there are so many headaches. Allah… I've been trying my best, hoping to Allah that this does not happen, but it if does, then I would have it done [termination]. 

Why was that?

Because it is hard. I have one and I take him to hospital everyday, put machines on him. There would be too much suffering for me if I had two. So I would have done it, would have had a termination, because it's only blood, there's nothing in eleven weeks. I mean there's nothing to fear.

You said that you were too late with your son who has thalassaemia, how many weeks pregnant were you at that time? Did you say four months?

I didn't realise. I was weak and I thought that I'm just not having periods. Then when they didn't happen in the next month, then I went the doctor and told him. Then I was a bit late in getting contacting the counsellor. Then the counsellor took two weeks to send me the results. Then she came to our house and said, “Do you want a termination or not? It will be like giving birth to a baby. They give you an injection, you get ill and then it's like giving birth to the baby, it will be like that.” I was scared then.

Footnote' up to around 13-14 weeks of pregnancy, a termination is normally performed as a surgical operation (dilatation and evacuation or D&E) under a general anaesthetic. After this point, the termination would normally happen by inducing labour. This is why the counsellor told the mother it would be 'like giving birth'.

In the original Mirpuri interview, the mother used the word 'miscarriage' rather than 'termination'. However, it was clear from the interview that she was using the term to mean an early surgical termination, and distinguished between this and termination by induced labour, which would not have been acceptable to her.

(See 'Values and religious beliefs' for more discussion about Islamic perspectives on antenatal diagnosis and termination). 

Others would still have considered a termination later on, but felt the longer they had to wait the more distressing it would be. As one father said, “Every single day that you're waiting, you felt, 'Oh, my God, this is such a precious thing.' So you feel more attached, and therefore if the termination does come, it would be even more painful.”

 

Professional learning: They would have preferred diagnostic testing earlier in pregnancy. Waiting...

Professional learning: They would have preferred diagnostic testing earlier in pregnancy. Waiting...

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Do you wish now that actually you'd been able to find this out before getting married?

Father' Yeah, in a way we wish, but in a way we can't really, because [wife]'s come from Vietnam. So, you know, she wouldn't have this, in Vietnam they wouldn't have this kind of facility to pick up, pick up the blood test, really. And yeah, in a way it's better to know it so that, you know, in 10 weeks or as quick, soon as possible we can sort of find out, you know. It's just the bit that the time span is while she's carrying the baby, really. If we'd known a bit earlier we could do things a lot earlier. But I think that's the only thing we wish, that it was a bit earlier, you know, it was known earlier, rather than 20 weeks in the process.

I wonder why it was that late? At what stage was the first blood test?

Father' It, I think it was just a routine blood test really, do you know? Routine. And I just had a letter come through. It was, 'Could you come and make an appointment?' sort of thing. And, and that was done and then we came in and then it was another two weeks until we got the results, yeah. And I'll tell you what the worst thing about that was, that you know, the first test, the first test when I got result and that, they said that if we got a positive result then if it's - how shall I put this? 'If it's bad results then you wouldn't hear us in-' Let me get this right. 

[discussion in Vietnamese]

Father' Ah. She's saying that if she - basically, the doctor who did my test saying, 'In the first week, if we don't call you, then the result is good.' Yeah? So every day that passed by, you know, we were just getting happier and happier, yeah? So we just thought, you know, after one week, you know, 'It must be a good result. That's why they haven't called us, because, you know...' And then after that, you know, then two weeks time, she called us to say, you know, 'Sorry about the delay' or something like that, you know. So it was that really, you know. It was, I think the thing is that you have to do it one week, week - I know it's time pressure - but the thing is you need to know as soon as possible, because every day that sort of delay it just, it kills you, you know? You just, you know, you just think of the implication all the time. You just can't stop thinking. Yeah, so - so things like that, you know, I think in future for any couple you want it, 'This week you're going to get this result this day; this day; this day' rather than sort of - because by that time every day I was looking at my mobile and every time it rings it could be the result, do you know? So it was like nervous the whole month basically. And it was that really. That's the heavy part, really, because you--

Was that delay in the results anything to do with it being the E variant rather than the beta, or they just didn't explain why it was'?

Father' No, they said something about, 'There's a lot of work on' or something like that. And I think they said it - I think the worst part was that they said it was going to be two weeks, but they said if there might be, if it's a good result then they wouldn't call us - no, if it's a bad result they would call us in the first week. And therefore the longer that it goes on you think, 'Oh, it must be a good result because they haven't called us.' But even two weeks seemed to be a long time, you know. I think, you know, we need to know more quicker really for something like that, because things go through your head all the time, and you need to know and act on it, rather tha

A degree of waiting between the different steps in the process is inevitable, but as the father in Interview 13 explains, the anxiety of waiting for results can be made worse by uncertainty over when they will arrive. He felt strongly that it was important for staff to give parents a clear and realistic timetable. He also suggested that a supportive telephone call from a counsellor during this waiting period would be helpful, just to ask if they were OK. The National Screening Programme and the National Institute for Health and Clinical Excellence recommend that parents screened antenatally should be informed of the process and timing for getting results after screening. The standards being developed by the National Screening Programme encourage the availability of results by 5 working days after the screening test.

Delays in the process of care may happen for various reasons, sometimes because people do not realise they are pregnant or delay getting in touch with health services, or because of administrative or staffing problems.

 

Professional learning: By the time she realised she was pregnant and had screening and...

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Professional learning: By the time she realised she was pregnant and had screening and...

Age at interview: 24
Sex: Female
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Is there anything that you'd want to say to other parents from your experiences or to health professionals about how to counsel people?

Nothing really. I think they're doing a great job, I think they are. But it was just the doctor that did the CVS, she was just, she was a bit nonchalant about it. Maybe it's because she was stressed or something, or she's done a lot during the day, but she wasn't really that supportive.

Tell me more about that.

Because when I got there I think I was seventeen weeks pregnant or something when I did it, so she was more worried. When she heard how many weeks I was pregnant for, she was, she had, she left the room, she went to consult with another doctor if they should do the CVS or they should do the amniocentesis or whatever. And when she came back she was like, oh, she was going to go ahead with the CVS, and she was just moaning about me waiting for that long before I came to have the test done. So she didn't really know who I went to, how long it took me to make the decision - and this is NHS we're talking about, it takes a while before they can book an appointment for you. She wasn't really ready to listen, that was the only point. I was just like, 'Okay she doesn't know what I'm going through, so why she should be talking to me like that or something?' But every other person - because I had another doctor who, she did sort of like a counselling and gave us information and did some blood tests a day before I went for the CVS. She was really supportive as well, but every other person was quite helpful, apart from the doctor that did the CVS.

What, was it partly because you, you needed time to think about it that you took - I mean, I don't know what the time gap was between finding out you were a carrier and having the CVS?

No because, I didn't know I was pregnant. I felt some changes in me, but I wasn't sure I was pregnant, so until I had the test done and I found out I was pregnant then the GP couldn't book me in until like a month for the antenatal, so everything just kept prolonging, after then. I had a month before I could register for antenatal. Then the lady that was meant to do the counselling at the sickle cell centre went on holiday, so they had to look for someone else. So everything just cropped up and so it prolonged the, the CVS so.
 
 

Professional learning: His screening test result was delayed, so they had their counselling...

Professional learning: His screening test result was delayed, so they had their counselling...

Age at interview: 29
Sex: Male
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Did it ever cross your mind not to have screening?

No, it didn't. It just - because in the letter, when they wrote to her, you know, they actually attached a form for me to take my blood test, well in advance, before we come for the counselling. So I took it, but for some reason it still hasn't - actually the test, the result still hasn't arrived. It hasn't come, so - by then. So the appointment date reached and we went, whilst my result wasn't still, you know, out. So we went for the counselling, you know, without still knowing my result, anyway.

That must have made it quite difficult to have a proper discussion about what you were going to do next?

Yeah, you are right, because now I don't know what, whether I'm a carrier or not. So it's still very, you know, difficult to sort of say things that I would have said if I know mine, whether I'm a carrier or not, so it's kind of a balanced decision now, to say this or that. I cannot really say some questions you might ask me. 

So you went to the - or made the appointment, not feeling particularly anxious. Do you feel more anxious now?

Yeah, a little bit, because now I don't have my results so it's quite, you know, I'm in a position where I still don't know whether I am a carrier or not, and now I know if I'm a carrier then the chances of my child, you know, having it is about twenty or twenty-five per cent or so, so it's still quite balanced by it. I'm hoping that I'll, you know, I'll prove negative to it, so that the child will be sort of free, from, from the disorder. Or if - I'm not quite sure whether the child can be a carrier - if my wife is a carrier. Yeah, the child can be, but not the disorder.
 

Many people said how important it was to be able to speak to someone about their results as soon as possible, who could explain in detail about inheritance, carrier status and the nature of the conditions. It should also be someone who had specialist expertise in the topic. Receiving a letter and having to wait to be able to talk to someone was especially worrying. 

 

Professional learning: When she got a letter saying she was a beta thalassaemia carrier she was...

Professional learning: When she got a letter saying she was a beta thalassaemia carrier she was...

Age at interview: 22
Sex: Female
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So when you got that letter, what were your feelings when it came through the letter box?

Well, as I said, I was terrified, I didn't know what it was all about. And you know I just wanted to, you know, get to that appointment and see what it was all about, to be quite honest, because I was a bit worried about that. Because obviously, you know, it's when you're pregnant you don't know sort of what to do, really, with things like that.

And did you talk about the result with your partner before you went to that appointment, or did you not know at that point that he was going to be involved?

No, I didn't.

They did say on the letter about having your partner come along, so he knew he had to come along to that. So we both went along together to the appointment, to see the lady, and she went through everything and explained all about the red and white blood cells and what would happen if baby got it, and you know, what the options were, really. And then they took my partner's blood, and then we just had to wait, really.

What was going through your mind in that waiting period? Were you thinking what you'd do if the result came back positive?

Yeah, if it had come back positive I would have definitely continued with the pregnancy, definitely, and just dealt with it, really.

What made you think that?

Because I felt it had gone too far, really. You know, when you're seeing baby's heartbeat on the screen and things like that, you can't sort of, you know get rid of that really.
 
 

Professional learning: While they were waiting for their counselling appointment, they asked the...

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Professional learning: While they were waiting for their counselling appointment, they asked the...

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Mother' And then like I say a letter come through. And we thought it was wrong, to begin with. And because she was a big baby as well we did take it to the hospital, didn't we? We had to take her back to the hospital for a heart murmur. And we did take it back, didn't we? We had that leaflet with us in our red book [laughs]. And we said, 'Look, you know, is this right? You know, we're being told, we've received this.' I think it was a health - was it a health visitor actually?

Father' What, with the...

Mother' I think it was the health visitor. We were just showing her the leaflet and said, 'Look, we've had that through. But can she really have this?' And it was just waiting for the appointment - well, no, actually, waiting for the date to come around for her, the lady to come out and do the bloods. I'm sure at clinic I took the leaflet down and asked the health visitor, and unfortunately she's just, she was just - we did actually, yeah. She just said, 'Like you, I can't answer that'.

So do you think she didn't know that much about the condition? Was that the issue?

Mother' I think she was a bit more shocked, again, because of us being white.

Father' It was as if, I don't think maybe she hadn't come across a case of two parents, two white parents having this sickle cell running in the family. Maybe it was just a shock to her.
 

See also sections on 'Communicating results' and 'Explaining genetics and risk'

Last reviewed December 2018.
Last updated August 2010.

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