Screening for sickle cell and beta thalassaemia

Experience of having diagnostic tests

There are two types of diagnostic test, chorionic villus sampling (CVS) and amniocentesis. In these tests, a fine needle is inserted through the abdomen to collect a sample of cells from the placenta or the fluid around the baby for analysis. In CVS, the sample is occasionally taken through the cervix (neck of the womb) rather than the abdomen. CVS is can be performed from around 10 weeks of pregnancy (usually done between weeks 10 and 13), amniocentesis from around 15 weeks. Both tests carry a small risk of miscarriage. 'Screening tests for you and your baby’ (2017) advises that: “About 1 to 2 in every 200 (0.5% - 1%) of diagnostic tests result in a miscarriage.”

Many women feel anxious about the idea of a needle going into their womb, and worry while waiting for the test appointment. The research evidence suggests most women find it less painful than they expected, but a few find it quite upsetting or painful. The women we talked to had varying experiences of pain and anxiety. Having a sympathetic and understanding doctor helped.

She was given a clear explanation of what CVS would involve, and did not find it too painful. ...

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Age at interview: 41

Sex: Female

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Before I had the test done again I was given information again about what it's going to be like. The test is called CVS, chorionic villi sampling, and what I should expect - they said they were going to do it through the abdomen, because I think they can do it through the cervix and abdomen, but they were going to do it through the abdomen for me, you know… I mean, they gave me the choice. It was my choice. It wasn't that they told me that I have to do it. It was my choice that I wanted to really do it, you know. So they asked my permission. I wanted to do it. I had to sign a consent form. And then they give me a date to come and do it, you know.

And then I went the next time to have it done… It was done definitely before twelve weeks, because they said that they can do that one earlier. I mean, in a way it's good to have it done then, because if you decide that you want to terminate the pregnancy, it's much better that way than if you should be advanced. Because there are other tests which they can do when you're advanced, you know. But it's better to do it at that time.

And because they asked me what did I want to do then. And I said, “Well, if it's a child with sickle cell anaemia, I've always said if it's an SS [sickle cell anaemia] child I think I'll consider a termination.” And so they had it done before twelve weeks. I went to the hospital and they actually they numbed the area of the abdomen. And they have this very long needle, you know? And it went through. It wasn't very painful, I just had like a sort of like a pain or something going through, you know - not very, very painful. It's just a very slight thing going through, you know. And then they had to suck off something, just a tiny thing. So they went through and sucked this thing and some fluid went up this needle, like a reddish fluid into this needle… It didn't take very long to have it done.

They had a long wait for the appointment. It was painful, but she was determined to have the test...

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Age at interview: 36

Sex: Female

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So tell me a bit more about having the CVS, when you went along together that day. What was it like?

I was a bit scared at the beginning. I was, but then I was quite determined to go along with my decision' have the test, take the test anyway. And for the fact that I've done it once before, even though it was a long time ago, I was very prepared for it. And the waiting time was a bit [laughs], was a bit of a drawback for me, because you had to wait so long for the test itself, to be waiting - to be done. All I wanted was to get in there, do what I had to do and have it over and done with.

Was this the waiting time sitting in the waiting room, or?

Sitting in the waiting room.

Ok, did you have to wait a long time?

Yes, yes. We had to, we spent almost six hours doing that test, just for that test that day, which didn't really help [laughs] the situation. It was like all panic at the end of everything. But I was determined, I was very determined to go along with it, otherwise I would have picked up my coat and just run off. But then I was quite determined to have it. And because my partner was there as well to support me, it made things a bit easier for me.

What was it like for him - have you talked to him about how he felt watching it?

Because I have to take, I had to do some scans, they needed to scan me in another room before I went into the test room - so I mean, he's never done any of these things before so he was thinking [laughs] oh well, everything was going to go as smoothly as the scanning bit. But then it's not as easy as that. So when we went into the room he said, he just held on to [my hands] - because he had to stay above my head because of the positioning of the nurses and the doctor, so. At a point he had to close his eyes - I was watching him - he just closed his eyes, he couldn't look [laugh], whereas I was telling him to keep an eye on things. Well, he just closed his eyes, and just held on to me tight.

It was a bit painful. It was really painful, not just a bit painful, because, I think because of the position of the baby the needle wouldn't go in. They couldn't just put it in straight and bring out the tissue. They had to go in and push through again. But I just had to keep still, because that was all that mattered to me at that point. And I didn't want it to go wrong, I didn't want to have to go back and for retesting, so I just had to keep myself together, hold myself together. I took all the pain.

How long did it take, the procedure?

Mm, it only took about, I think three to five minutes in all, yeah.

That's quite a long time to be feeling that sort of thing?

Yes, yes it is, especially when they had to go in from one angle and push up or down from another, from right inside you, it can be really painful. I thought I was, I lost feeling in my leg [laughs] after the test, that's what I thought. Because I couldn't really move my leg. But thank God for painkillers. It wore out, in time it wore out and I was back to myself again.

Footnote' most women do not find CVS and amniocentesis as painful as they expected, but a few do find it very painful. Most women who have the test still feel it is worth it to find out for definite to if their baby is affected.

She didn't find CVS too bad, but her partner felt faint and had to leave the room.

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She didn't find CVS too bad, but her partner felt faint and had to leave the room.

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Age at interview: 24

Sex: Female

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Well I was just outside the waiting room, because there was a couple in there and [sighs] I didn't know, I was just, [sighs] I was everywhere, really. So when they called us in and they explained everything again, and we had to sign a consent form, and they brought a big trolley with the injection and everything they were going to use. And at that point my boyfriend freaked out and [laughs] he, he just, they had to tell him to leave. So, yeah, [laughs] he couldn't stand it, because they had some big needles and everything so, he left. And just, I think after they did the first, they had to put in the first needle, then he came back, because he was feeling really bad and guilty for leaving me alone, because he promised was he was going to be there, so, but he was shaking and the doctor had to tell him to leave, yeah [laughs].

So he had to go out again?

Yes [laughs].

Oh dear, that must have been hard for you, and for him?

Yeah, yeah but - yeah, I did it, and once they'd put the first needle in it was just uncomfortable, but the second one was quite painful and that was it that was it. It just took about five, five, ten minutes tops.

Did they give you a local anaesthetic?

Yes, they did.

Did that help?

Yeah, it's just the surface, it doesn't go inside, so you're going to feel the pressure of the needle.

What, how was it compared to what you'd expected?

Mmm, it was, it wasn't any different really, but the only thing, as I say, my boyfriend wasn't there and that was the - well, it's just a bit uncomfortable and yeah, once it's out it's out, and that's it. It isn't that bad, it isn't that bad.

She was upset during the CVS. It was not especially painful, but she was feeling emotional and...

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Sex: Male

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Mother' Well, it was all done - the - it was, it happened on the, within 48 hours of us actually finding out that I carried the thalassaemia gene, the trait as well.

So it was fairly surreal. And we were going to, you know, we saw the nurse, then we saw the consultant, then we had counselling to see if we wanted the CVS and what we would do, dependent on the result et cetera. And then the next morning we came back to have the CVS. And, you know, the nice bit of it was that we had another scan. So we got to see the baby again, which is always nice when you're pregnant to see, to see the baby and hear the heartbeat, and all that kind of thing. Because at that stage in your pregnancy, 16 weeks or whatever it was, you don't feel the baby yet. So it's always nice to have reassurance that it's there and that, and everything's okay. But once we'd sort of had the scan and, you know, they sort of got down to the procedure it was, I was just beside myself, I just cried the whole way through it. And probably sort of carried on crying afterwards.

And I know that I was then worried, and went to my local hospital to have, to be put on the monitor sort of 48 hours after I'd had it, because I was scared that something had happened to the baby. And, you know, you just can get completely carried away with the emotion and the, sort of the worst-case scenario of the whole thing. But it, I mean I can't say, it wasn't a painful procedure, but I think it was more emotionally as to how I was feeling about it. And even in, if you're in a pregnancy where everything's gone well, you're a very emotional person [laughing].

And so I was, I was, I was very, very emotional at that stage. And it, the, the procedure, it was, was fine. It's just when you know what the possible side effect of having a procedure is, and that's obviously a miscarriage, and the end, the result of having the test is to confirm or rule out a problem, a condition, that's what sort of makes it more nerve-jangling. In terms of, you know, the discomfort or whatever, it's nothing to going through having the birth [laugh]. So that wouldn't worry me, it wouldn't worry me from that point of view, having one again.

Footnote' there is a small risk (around 1%) of a miscarriage after CVS or amniocentesis.

All but one of the women felt it had been worth it to have a clear diagnosis. One mother worried that CVS had in some way caused her daughter's condition of beta thalassaemia major (although there is no medical evidence to support this). In her other pregnancies she decided to have no diagnostic tests and the other children are all well. She said that her religious views meant that she would not terminate a pregnancy anyway (although other Muslim women would disagree).

Another mother, also a Muslim, had CVS in two pregnancies but found it so painful she decided against it in her third pregnancy. At the time she thought she would rather wait to find out at birth and leave it in God's hands. Now, having a baby with sickle cell anaemia, she would have CVS if she ever became pregnant again.

She found CVS so painful she decided not to have it for her third baby, who was born with sickle...

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Age at interview: 37

Sex: Female

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So you had - well, you tell me. You had the first one -

The CVS test. The second one the CVS test. The third I didn't.

Why?

I just don't want to. I just feel whatever the case, whatever the case, that God is in control of my life, and in control of the child's life. So I didn't. I just decided no, I'm not going through that process, the CVS test again. Because honestly I don't like CVS, I don't like the test. But because it reveals, it tells you, it makes me prepare for what to expect. So, I didn't have the CVS test for, for the third one. I just decided. Because I don't want to go through it again.

Despite the fact that then you had the, the anxiety, or the uncertainty, through pregnancy?

Yeah, I decided not to.

Do you look back and think actually I wish I had had it for that one?

No. Maybe the reason why I didn't look back was the processing, what I've gone through the first and the second. Yeah, because during the second and during the first pregnancy, I was sad, yeah. The second pregnancy I was happy after the result, but the first pregnancy make me sad through, you understand? So I don't want to go through all of that again. And I don't want to go through all the pain of CVS test pain, so I decided not to. But when they, I was told the result in the hospital, I think a day after I had the baby, then that's, I was sad, honestly. I was emotionally uncontrolled. But I just decided that is it, I have to be, I have to be there for the child and I have to be strong for her, so - and we are coping.

What would you say to other parents from your quite mixed experiences?

Actually, it depends on their beliefs, honestly, because if I look back, the first two pregnancies, I would say, yes, they should go. Yeah. But because nobody knew the, the pain of this - because to me I don't like the CVS pain. If it's painless, if it's painless then I think we should go for it. But [laughs] because of the pain, yeah, I don't really like it. So it depends on the beliefs of the parents, if they want to, and if they want to for the sake of the child, you understand, maybe they should go for it. Yeah. And it was, if they go for it, they will know what to do earlier, I mean, the early pregnancy, maybe I think the CVS is twelve weeks? Yeah, then they know what to do, maybe to terminate it or to leave it. But next - if I am, but I don't think so - if I'm pregnant again, I will do it.

Footnote' most women do not find CVS and amniocentesis as painful as they expected, but a few do find it very painful. Most women who have the test still feel it is worth it to find out for definite to if their baby is affected.