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Screening for sickle cell and beta thalassaemia

Getting diagnostic test results

It usually takes less than a week to get the results of diagnostic tests in pregnancy. The wait for results can be a very anxious time. Some people tried not to think any further about what they might do until the results came back, but others kept turning it over in their mind. There was great relief for some people when they were told their baby did not have the condition.

 

Waiting for the amniocentesis results was very hard. They had decided they would have ended the...

Waiting for the amniocentesis results was very hard. They had decided they would have ended the...

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Father' The problem is that she's, I think the biggest problem we had in this particular, in our situation, it was very late in our perspective. Because it was like, it was 20 weeks when we found out, because things took time basically. But every week that, you know, it was delayed she was getting bigger and she was getting more attached to the baby. And I think that was our biggest problem really. It wasn't the fact that we have to terminate the baby. If it was like 12 weeks or 10 weeks maybe the emotional impact is not so great. But when it was 20 weeks, do you know, then I think that's the biggest problem we had really, I think - you know, going ahead with, you know, taking the consequences of our sort of blood type.

Had you got as far as agreeing what you would do? Or were you unable to kind of...

Father' No, we, we agreed that if it - I mean the point is, well, [wife] wanted to keep the baby because that's - name again - it's like a maternal instinct. But from our perspective, you know, you've got to think of the children's perspective. We don't want to have a child who's, who needs that sort of care and attention for the rest of his or her life, really. So, you know, we were trying to sort of prepare ourself for the worst, really. And it was termination, if it has to be.

Was that a difficult discussion for you both?

Father' Oh, it was very, really. Yeah, we were - I mean it's my worst sort of, I've never been such a - emotionally, it was the worst period I ever had in my life actually. Because it was just - the worst part is just waiting for results, and you're just, you know, you're just waiting for something so important. And because, you know, we both sort of come from immigrant background and we don't have much family, so our first child is very important basically. So, yeah, it was a very, very big decision to make. But, you know, but the bottom - I mean the way we think is bottom line. If the baby has, the baby - then we've just got to take that step basically. Because we don't want to sort of have a baby who will be sick for the rest of their life sort of thing.

 

She had to call to ask about her CVS results because she couldn't bear the uncertainty. It was a...

She had to call to ask about her CVS results because she couldn't bear the uncertainty. It was a...

Age at interview: 36
Sex: Female
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This - well, because my consultant had gone away, because he said it would take about a week for me to get the test result - unlike in those days, when I was just phoned up the third day, and there I was with my test result. But this, I had to wait for a week and no news, no letters, no phone calls, so I had to call them [laughs] - I had to call them that, 'Look, I haven't been able to sleep, I really need this test [result], otherwise [laughs].' And they said not to worry, that they would call before the end of the day, that they'd got some part of my test result but they still need some of it to come through, because that wasn't the only test that I took. 

So, by the time the doctor called me - the doctor called me herself to tell me that she would be phoning me first thing in the morning, but 'Don't worry, everything is well.' And since she gave me that clue that everything went well, that everything is well, that I shouldn't worry, I was a bit pleased for myself. And when she called me in the morning she told me that the baby is AS [sickle cell carrier] as well, he's not SS [does not have sickle cell anaemia]. So, and I think that's enough for me to hold on to. That's, the baby's AS, yes. well, I'm AS and the Dad is AS, so that will do me, that's enough for me.

 

Waiting for the CVS results seemed like a death sentence, and she felt very ill. Being told the...

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Waiting for the CVS results seemed like a death sentence, and she felt very ill. Being told the...

Age at interview: 24
Sex: Female
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What was it like waiting for the result?

[Laughs] Oh, it was like I was waiting for a death sentence or something like that so, yeah. And I got the call. And actually they called me and they dropped a message. So I went into the kitchen, before I got back my boyfriend gave them a call, so he found out before me and they told him the baby was AA [not a carrier]. So [laughs] instead of calling me he called his Mum all the way in Nigeria to tell, tell her about the good news, yeah. And when I came in he was happy and, yeah.

So great celebrations?

Yeah, that was the turning point for us, yeah.

Had you talked about it much in between the test and getting the result or did you just?

Yeah, we just left it like that, yeah, really. Because I think - now, after the day I did the CVS I was in pain. I don't know, because I wasn't eating, I was so depressed and everything, so for the second day I couldn't stand up, I was in pain, I was dehydrated. So I was taken to the hospital. I was an admission. So during the period while I was waiting for the result I was in the hospital, so.

Oh gosh.

Yeah.

So were you worried that you might be miscarrying?

Yeah, actually I was. But when I got to the hospital the doctor saw my lips, he just said I was dehydrated because I was not eating, and once I ate I couldn't keep it down, I just kept throwing up. I think it was due to I was doing a lot of thinking and everything was just, everything was just terrible at that point. So I think, and then I knew it wasn't anything to, it didn't have anything to do with the CVS, but my own state of mind, so.

Footnote' there is a small risk (around 1%) of having a miscarriage after CVS or amniocentesis. AA means normal haemoglobin.

Some women we spoke to had haemoglobin SC disorder themselves. This is a type of sickle cell disorder which can have similar symptoms to sickle cell anaemia, but is usually milder in its effects. (See 'Living with sickle cell disorders'). For these women it was, to some extent, a relief to learn that their baby had SC disorder rather than sickle cell anaemia, although of course they would prefer the baby to be healthy.

 

She was sad to discover her first baby had SC disorder, but knowing helped her be strong. She was...

She was sad to discover her first baby had SC disorder, but knowing helped her be strong. She was...

Age at interview: 37
Sex: Female
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And what was it like waiting for the results to come?

Oh, the anxiety. It's I think it's two weeks, or a week - I can't remember any more. It's it looks, it looks like a long two weeks, very long, a whole - like waiting for a whole year just to receive the results. It's, it's long. 

Were you worried about the risk of miscarriage when you had the CVS? Did they talk to you about that?

Yeah. No, I wasn't worried about the miscarriage, because I was told it's a 1% chance that I would miscarry. But that's why, because I knew the doctor they're telling me the right thing. Yes, so I wasn't, I wasn't worried.

And when you got the results, how did they, did they send you a letter? Did they call you?

[mm] I think I called them. I can't remember. They either called me or I called, because they didn't send me a letter. I called them then. I was told on the phone that it's SC [haemoglobin SC disorder]. So though I was sad, yeah, because every, normally every parent would like the child to be healthy, so I was sad, but that prepares me to be strong. I have to be strong for the child, that's why, yeah. 

Just tell me a little bit about, sort of, the one in the middle as well because that, you also had CVS that time?

Yeah, I did the CVS test on that one, and I was very, very happy to hear that she's a carrier.

Oh, right.

Yes, I was very happy that she was a carrier. So that, that gives me relief. I was so relieved, yeah, throughout the pregnancy. Just the second one. The third one is very sad. Well, I'm coping. Yeah, I am.

Footnote' Footnote' Haemoglobin SC disorder is a type of sickle cell disorder in which the child has inherited hameoglobin S (sickle cell) from one parent and haemoglobin C from the other. Whilst it is a type of sickle cell disorder, it is a distinct condition. The symptoms can be similar to sickle cell anaemia, but SC disorder is often (but not always) milder in its effects than sickle cell anaemia.

Some parents described the shock of discovering their child was affected and having to think what they would do next. 

 

She was shocked to be told that the CVS showed her third baby had sickle cell anaemia. She had...

She was shocked to be told that the CVS showed her third baby had sickle cell anaemia. She had...

Age at interview: 41
Sex: Female
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Video and audio clips read by an actor.

So I had it done, and they said they were going to let me know about the results. So I mean I was very anxious. They gave me some dates, I can't remember how long they told me, but they said they were going to let me know. And I remember that I kept on phoning them back - “Are the results here?” you know. And they said, “Don't worry, we'll phone you when it's here, you know.” 

So eventually they phoned me to tell me about the results, and then they said they could tell me about the results, and they can actually tell me whether it's a girl or a boy. You know, they can do everything at the same time basically. So I said, “Yeah, they can as well, do everything, so let me get myself prepared.” So I remember when they called - I think they said they'd call me. I wasn't there, so I called them back and they told me over the phone that she's got sickle cell anaemia, you know. And I was like shocked - like, “Ah, oh no! SS [sickle cell anaemia].” You know, I was very, very - I was very, very, like - I don't know the feeling, you know? The next time I called them back, and I said, “Are you sure, [laughs] that she's got SS?” 

She said, “Yeah, yeah”, you know, “and you've got a little girl.” And it was very, very hard. And they asked me what I wanted to do. I said I'd call back, that, I think as I said before, I'd said maybe I think I might consider termination. But then, you know, after I just couldn't. When they told me that, I was like, “Oh, what should I do now?” And I just thought - because when they were going to do the CVS I actually saw a scan of the child moving and everything else. And in a way I just said, “Oh, this is lovely, you know, and even if she has SS, how can I, you know? How can I do this?”

You can see and hear parents talking about how they decided what to do after diagnosis.

Last reviewed December 2018.
Last updated September 2015.

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