Screening for sickle cell and beta thalassaemia
Deciding to have diagnostic tests
If both parents discover they are carriers, there is a 1 in 4 chance their baby will have the condition. They can choose whether to have a diagnostic test to check if the baby is affected. A woman who knows she is a carrier may also want diagnostic tests if she is not in contact with the baby's father or he does not agree to be screened. There are two types of test, chorionic villus sampling (CVS) or amniocentesis. (See 'Experience of having diagnostic tests'). CVS takes a sample of placenta for analysis, whilst amniocentesis takes a sample of the fluid round the baby.
No-one has to have these tests. It has to be a personal decision. Some parents decide they would rather not know, especially if they feel strongly they would never terminate a pregnancy. (See 'Reasons for deciding not to have diagnostic tests'). Others want a diagnostic test because they expect that they would terminate the pregnancy if the baby has a sickle cell disorder or beta thalassaemia major.
However, some parents want a diagnostic test in pregnancy even though they feel sure they would not terminate the pregnancy. They may prefer to know for certain rather than worrying all through pregnancy whether their child has the condition. Many people also think it is important to prepare emotionally for what they may face.
In her first pregnancy she decided to have CVS so she could prepare for the birth, but she would...
In her first pregnancy she decided to have CVS so she could prepare for the birth, but she would...
Yeah, because I want to know at that time that if the baby is a carrier or is SC [has haemoglobin SC disorder], to prepare me for what to expect after the baby has been born. Yeah, that's why.
Did it ever cross your mind that you might think about a termination if the baby had it?
No. No. No. I was told, I was told that I can terminate it if I want, but I decided not to because, maybe because the baby is my first child. Yeah, so that's why, yeah.
And also because you've experienced'
Yeah.
SC...
Yeah, I've experienced '
' so you know what it's like?
yeah, I have the experience how it's like. That, yeah, I'm coping with it, though it's difficult, but I'm coping with it. And I have the doctors around me, sickle cell counsellors around me, so that, that motivated me not to, not to terminate it.
They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have...
They had CVS to help them prepare for having a baby with beta thalassaemia major. They might have...
So we saw the consultant that afternoon and I think that there and then was, I was booked in for a CVS the next day. Because by that stage, at I think sort of coming up 16 weeks pregnancy, something like that, they were concerned that if I wanted to, or we wanted to consider a termination that clearly it would be getting quite late in the day for that. We decided to have the CVS, not because we were ever going to consider a termination, but because it was a 25 per cent chance that the baby would have thalassaemia major we wanted if it was bad news to be able to prepare ourselves as fully as possible.
So we went back to the hospital the next day, had some very brief counselling before we had the CVS. Had the procedure, which I found extremely distressing, invasive, was very scared afterwards about the increased risk of miscarriage as a result of having it.
But we also opted at that stage to find out if the baby was carrying any other genetic conditions, which we had decided previously we weren't going to find out about. Because we thought if we were looking at a, a combination of problems, particularly something like Down's syndrome, where obviously the extent of disability is not obvious prior to birth, we would maybe then reconsider whether or not we did progress with the pregnancy. Because we thought for a child growing up to have to have fairly lengthy and frequent treatment coupled with possible lack of understanding, then it may be too much for that child to be able to cope with. And I hope that when we were thinking about the decisions it was on the basis of what would be best for the baby, as opposed to what would be best for, best for us as parents.
They decided to have amniocentesis straight away. They felt they would want to end the pregnancy...
They decided to have amniocentesis straight away. They felt they would want to end the pregnancy...
Father' Oh, it was immediate, you know, it was immediate. I think the day after we arranged an appointment to have the test. Because we need to know as soon as possible really, to - if it needs to be terminated then we have to do it very quickly, because every single week that passed by it would be, you know, she would be getting bigger and more attached to the baby basically. So that's it, yeah.
Most people we spoke to felt it was worth taking the small risk of miscarriage (up to 1% for both CVS and amniocentesis - NHS Screening programme July 2017) in order to find out.
The risk of miscarriage from CVS was less important than finding out whether her baby had sickle...
The risk of miscarriage from CVS was less important than finding out whether her baby had sickle...
Video and audio clips read by an actor.
I remember that they told me that there is a risk of miscarriage, you know, and that's one of the risks. And so I need to sort of decide whether I need to go through with it or not. But at that time it was more important for me to know whether she's got the condition than the risk. I wasn't too scared about the risk at that time. It was more important to me to know that, “Okay, now that I know my husband is AS, is a sickle cell carrier, I mean, I need to know. I need to know so that I will be able to” - I mean, my idea was like, “Oh, I just wouldn't want to bring a child who comes into this world suffering”, basically and I just needed to know then.
So although it was explained to me that there was a risk of miscarriage and everything, the thing is that I always hope for the best, basically. [laughs] You know, I always hope for the best. Because although they would tell me a risk, like I tell you, when they told me that, “Oh, this is your one in four chances of having this thing”, I was hoping that she'd have AS [sickle cell carrier] or AC [carrier of haemoglobin C]. So when they say a risk, “The risk of miscarriage is this”, I just hope that, “Well, I wouldn't be that risk.” [Laughs].
Footnote' This woman has SC disorder and her husband is a sickle cell carrier. She therefore had a 1 in 2 risk that her baby would be a carrier (either of sickle cell or haemoglobin C), and a 1 in 2 risk that the baby would have a sickle cell disorder (either SC disorder or sickle cell anaemia).
Whilst some people decided quickly they wanted a diagnostic test, for others it was a painful process to make up their minds.
Many different factors will affect people's decision about whether to have diagnostic tests, including their personal knowledge and experience of the conditions, their moral or religious views, their feelings about what they could cope with as parents and their anxieties about what life would be like for the child.
Some people talked about how seeing family members or friends with one of the conditions convinced them they wanted a diagnostic test. We talked to two women who themselves had haemoglobin SC disorder and who both decided to have antenatal diagnosis in some or all pregnancies. They were most concerned about the possibility of having a baby with full sickle cell anaemia, but felt they would manage with a baby with SC disorder like themselves. (See Interview 07 and Interview 03 above).
Parents who already had a child with one of the conditions had different views about whether to have diagnostic tests in future pregnancies, depending partly on how well the child was. It can be difficult for women to consider ending a pregnancy if they already have a child with that condition so some women would prefer not to know but others would consider this option.
After seeing how hard life with beta thalassaemia major is for her son, she wanted diagnostic...
After seeing how hard life with beta thalassaemia major is for her son, she wanted diagnostic...
English translation, video and audio clips in Mirpuri, read by an actor.
And it is a hard job, and if the individual knows that a girl and boy are carriers, firstly they should not get married. Secondly, if they get married, then they should definitely get checked in [city]. There are placed to get checked, Mashallah to find out if the child is major. Nothing's happened in eleven weeks. Then in my next pregnancy, I had checking. I had the test at eleven weeks, for my third child. Then they said that he was a carrier, not major. Then for my youngest, she's two and a half, I had checking that time round. I had the check within eleven weeks, and Mashallah she is absolutely normal, not even a carrier.
And now like this, it's luck. I mean some people's children could be well. It's not important that carriers - the girl can be a carrier even when you, the child marries from outside [the family]. Check the blood. To avoid your headache, blood should be checked. In the future… I have two children, three boys. One is major, the other two are carriers. I'm not bothered about the girl, she's normal, she can marry any boy. For the boys I will try the best from my heart that the girls are normal, because it is suffering to have to go to [city] to get checked, and then you are worried. If they want to take on that headache, then that's their business.
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 miscarriage [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 miscarriage [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 miscarriage [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'.
The mother in this interview used the English word 'miscarriage'.
One mother whose own daughter with sickle cell anaemia has been quite well so far knew this might change.
She feels she couldn't cope with another child with sickle cell anaemia. Her daughter has been...
She feels she couldn't cope with another child with sickle cell anaemia. Her daughter has been...
Religious views were an important factor for many people in reaching their decision. For some Christians and Muslims, their religion meant they could never consider ending a pregnancy. But not all people with religious beliefs felt this way. Some Christians and Muslims, and one Buddhist mother, wanted diagnosis so they had a choice whether or not to terminate, and some Muslim mothers had investigated Islamic teaching on termination. As one mother explained, some Islamic scholars teach that termination for life-threatening conditions is permitted up to 120 days of pregnancy, at which point the soul enters the unborn baby ['ensoulment']. After that it is forbidden.
She has heard Islamic religious leaders explain the soul enters the unborn baby around four...
She has heard Islamic religious leaders explain the soul enters the unborn baby around four...
English translation, video and audio clips in Mirpuri, read by an actor.
Allah forbid, if this was to happen to you again, if you're twenty weeks pregnant and you find out late, what would you do?
I have not thought out that I wouldn't let it go so far. If it does, I mean I have enough children, but even if it does happen, I think that would be too late. Because Muslims are not permitted, because the child has a life then [soul has entered]. The baby moves in the mother's tummy at about four, four and a half months. And in my calculations, I don't think anyone should do that. Don't let it go to that limit anyway. Eleven weeks is really nothing at all, I mean, it's just blood, doesn't have a life. The baby doesn't move in the mother's tummy. A baby of four, four and a half months moves its arms and legs. The mother can feel it. That's too late.
You said that it's not permitted in Islam. Did you get any information from anywhere about Islam?
Yes.
How?
The individuals are educated. They said that it is not a sin within eleven weeks.
Where did you find out from?
We found out, I mean, they're educated people. Now they talk about it on Radio Ramadan, I sometimes contact them, ask them. The Molvies [priests] sit on Radio Ramadan when it opens and they said that Mashallah it doesn't say in any book. Yes, if it's more than this many weeks, then it is not permitted. But it is no sin at this many weeks.
More than how many weeks?
They said over three months or over four months, but it's not a sin under three months or up to three months. It's no sin, I mean, it's not alive. The soul enters at about four months.
Footnote' some Islamic scholars teach that termination for life-threatening conditions is permitted up to 120 days of pregnancy, at which point the soul enters the unborn baby ['ensoulment']. After that it is forbidden.
She comes from a strongly Christian family, but she would end a pregnancy if she thought the...
She comes from a strongly Christian family, but she would end a pregnancy if she thought the...
Yes.
Did it ever cross your mind in that case to end the pregnancy, or was that not an option for you?
That wasn't an option for me, because I was far gone in the pregnancy at that point.
If it'd been earlier, was that something you might have considered?
Yeah, if it had been earlier, I would have had an abortion.
For some people, kind of religion plays a part in their decision making. I don't know if that's the case for you. What kind of factors were you thinking about in thinking about abortion and adoption, whether to continue?
Well, religion or no religion - well, I've come from a very religious background. My granddad is a Reverend - well, a Reverend headmaster. My Dad is an educationalist as well, he's a teacher. So , but sometimes I think you just have to be very practical about things. I want to be a realist, I want to be very realistic about things. I think every child deserves a right to life, but I also think every child deserves a right to a good life as well. A fulfilled life. At least health is one thing you cannot buy, and if a child wouldn't have a good quality, life quality, why would I bring that child into the world? So I'd rather not put my child through that and have an abortion, have an abortion instead.
She has talked to an imam and been advised that ending a pregnancy is allowed in Islam if the...
She has talked to an imam and been advised that ending a pregnancy is allowed in Islam if the...
Video and audio clips read by an actor.
In the Koran, if the pregnancy is going to take the life of the child or take my life, then it's better I terminated it. Yeah. Because I'm a Muslim.
Have you ever talked to anybody about what Islam would say in the case of finding out that the baby had SS [sickle cell anaemia]?
Yeah.
Have you taken advice?
Yeah. I was told if the baby, as I told you earlier, if the baby, if the sickle cell, if the disease is going to take the life of the child, or take my life during the pregnancy, then it's best I terminate it, yeah.
Did you know about that before…?
No.
Who did you ask? Did you go to a local Imam?
Yeah.
OK. So you feel that if it did ever happen to you again, you'd feel comfortable from a faith position?
Yeah. Yeah, sure, I would terminate it. Because I'd ask for forgiveness from Allah, because there's no point in bringing the child into the world to come and suffer, to suffer. It's no good. Because I don't want to suffer, and, to me, as I don't want to suffer, I don't want the child to suffer as well.
If you had another pregnancy and found the baby was SC [haemoglobin SC disorder], would you still go ahead?
[Sighs] At the moment, at the moment, no. At the moment, no, because I'm still going through a lot, so I don't want any more.
Footnote' some Islamic scholars teach that termination for life-threatening conditions is permitted up to 120 days of pregnancy, at which point the soul enters the unborn baby ['ensoulment']. After that it is forbidden.
See also sections on:
'Reasons for deciding not to have diagnostic tests',
'Deciding what to do after diagnosis',
'Values and religious beliefs',
'Advising people about their options'
'Timing and delay'.
If you would like to see more parents talking about their experiences of diagnosis in pregnancy (including diagnosis for other conditions such as Down's Syndrome), you can visit our Antenatal screening section.
Last reviewed December 2018.
Last updated December 2018.
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