Newborn screening after screening in pregnancy

Some parents who know during pregnancy they are carriers do not find out until after the baby is born whether he or she is affected by the condition. A sample of the baby’s blood is taken using a ‘blood spot test’ (also known as the heel prick test), and can be tested for several conditions, including sickle cell disorders. These tests are part of the routine tests carried out by the midwife in the first week after the baby is born. (Most cases of beta thalassaemia major can also be identified from newborn screening, but treatment is not required until the child is a few months old, and diagnosis may not be confirmed until later).

All women who know they are carriers, whether or not their partner has been screened, should be offered a diagnostic test (CVS or amniocentesis) during pregnancy to know for certain if the baby is affected. However, some choose not to know, especially if they feel sure they would not terminate the pregnancy. They may also be concerned about the small risk of miscarriage (0.5% – 1%) from having a diagnostic test (NHS Screening Programme 2016).

A few women we talked to whose partners refused screening were not informed they could have had a diagnostic test or did not look into it very actively. One woman explained how it didn’t seem very important to her at the time because she had so many other problems, and she couldn’t remember discussing it. The NHS Screening Programme is working to ensure that in future everyone receives clear and consistent information and advice about diagnostic testing, and that professionals know they should offer this to women even if their partner has not been screened.

During pregnancy she had so many other problems she wasn’t really worried about being a carrier….

Age at interview 33

Gender Female

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I had a call from a lady, I think from the sickle cell department that I need to come and see them. So I went, and then I was told there I had a trait of sickle cell in my blood, and that I need to bring my partner also to have a test, and that theres a 25 per cent chance that my baby could have the disease. My partner wasn’t in this country, so I told them I couldn’t, you know.

So after some time they wrote to me telling me that, well, they can’t tell me whether my baby was going to have the disease or not, so I should just wait till after the birth of the baby, then they will give me the results. So after I had the baby, after about three weeks, I had a call from the same lady that she wanted to come and see me. And then when she came she told me, well, my baby had the sickle cell disease and she was SC, SC [had haemoglobin SC disorder]. So, I felt very sad, you know. I was very upset, because I had other problems, my own problems that, you know, I was trying to deal with. So I was very upset, you know.

Did anybody say to you during pregnancy that perhaps you could have a diagnostic test, a CVS or an amniocentesis, when they test the baby still in the womb for the condition?

Hmm, well, I can’t remember anything like that.

Looking back –

As I was saying, I had my own problems that, you know, I was dealing with. So I wasn’t very serious about the sickle cell, you know. I thought everything would be okay. In my family, you know, there was nothing – that kind of sickle cell, you know. So I was just, so when they told me I had the C trait [was a carrier of haemoglobin C], I wasn’t so much bothered about it so much.

Footnote A woman whose partner does not attend for screening can be offered a diagnostic test in pregnancy (CVS or amniocentesis) if she wishes to know for certain if the baby is affected.

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. This mother was a carrier of haemoglobin C, and the baby’s father was a sickle cell carrier.

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Even though people know there is a risk that their baby may have the condition, it can still be a shock to get the results. Several people said how important their counsellor had been in providing information about the condition, advising them how to care for the baby and reassuring them that they could manage.

She realised something was wrong when the counsellor fixed an appointment after newborn screening…

Age at interview 21

Gender Female

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Video and audio clips read by an actor.

My health visitor, she asked me if I wanted the baby to get the heel test. I said, Ye and she said I need to sign the form. So I signed the form and then she got it done. And then after a few weeks then they phoned me. No, no, the specialist phoned me and said she wanted to see me. But at that time I knew already, so I just guessed. I said, Why she has to come to make an appointment to see me at home So I was already, I said to myself, Well, I know. If shes coming, then my son’s got sickle cell, because if he didn’t they would write to me. If shes coming in person, it means hes got i. So I was expecting it anyway.

How did you feel?

Oh, that day, I don’t know, when she told me, though I knew she was going to say that, but when she actually said it in her mouth it was, I cried because it was so painful, because I kind of like I blamed myself for him having it. So, I don’t know, I was just crying and she told me, Oh, it’s all right And she was explaining to me. And I was telling her, Oh, people say, in my country people say this And then she was like, No, it depends. If you give the baby the medicine and you keep him warm and you’re just looking after him, he won’t, none of these things will happen. And theres people that never went through the crises. And so it really depends how you’re looking after him So she was like giving me advice.

And from that day then I knew. And then there was other people. She was telling me, Theres other people that have got it and they’ve got kids and stuff. So it’s not as bad as it seems. But it could be bad if you don’t look after the baby So I was like, Okay. Really, it’s really up to me now to do my best and hes always well, and not get sick all the time

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The newborn results showing the baby had sickle cell anaemia arrived at the same time as her…

Age at interview 30

Gender Female

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I found that I was, I did find out I was sickle cell, I got sickle cell trait. And when I got pregnant I knew I was sickle cell trait, but I never knew my partner was sickle cell trait as well. So I went to the hospital, because hes not staying with me. I went to the hospital, I had the blood test done. I'd like go to my antenatal classes and everything. And later, it was like later about like six months or so [into the pregnancy], and they said, 'He needs to do a blood test.' And I told them, 'Hes not here.' And they went – I told them he lives in Amsterdam – and they went, 'Oh, he can do his blood test there.' Well, when I was telling my partner that he has to do a blood test because they found out I had sickle cell trait, he was like, 'Oh, theres nothing wrong with me. I'm fine. I'm okay.' And I was like, 'Okay.' So I didn't bother with him, I left him.

And then he came some time in July, August, like a month before I had the baby. He came in August and he did the blood test. Well, by the time that the result came back I'd had the baby already. So I didn't, I didn't know. It was like then they found out that she had sickle cell. Then the sickle cell centre had to send somebody in to come and do counselling. And he was there with me when they came in to tell us that she had sickle cell. I took it very very bad, because it was like both of us nearly split up, we were like fighting, arguing most of the time. He was like saying that it was me that had the problem. I was like, 'It was you.' Then we had like, we went through like lots of problem with that. And I was so ashamed like to tell my friends that she had' that she had sickle cell.

Footnote' A woman whose partner does not attend for screening can be offered a diagnostic test in pregnancy (CVS or amniocentesis) if she wishes to know for certain if the baby is affected.

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The sickle cell counsellors gave her good information about the condition and what to expect. She…

Age at interview 30

Gender Female

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She did actually like just told us, she actually like gave us like knowledge about it, like tells us about the sickle cell, what it’s like and what causes it. It’s like something that you – it’s not like' it’s not something that you just get or it’s not contagious or whatever, it’s just the thing. She explained to us everything. And then she told us that she had, my daughter has got the sickle cell disease, but because shes young shes got the haemoglobin F in her blood. It’s like after the age two, that’s when they start knowing what type of sickle cell shes got. And she was, she actually informed us very well and she came with – that’s when she came with the book and leaflets and things to give us to read about it. And then, because I was home with her I started going to internet cafs like start checking, getting information about it. And then I started going to the parent group, who have like people coming in with sickle cell that talks to us about it.

Footnote' Sickle cell disorders can be diagnosed after birth or usually by 6 months of age when most of the fetal haemoglobin has dispersed. Haemoglobin SC Disorder is evident from birth as the haemoglobins are quite clear despite the presence of fetal haemoglobin. On some occasions for the rarer types of sickle cell disorders diagnosis may be later than 6 months.

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We spoke to two women who knew before birth that they were carriers, but did not know there was a risk their baby could have the condition. One woman’s partner had been screened previously for sickle cell and was found not to be a carrier, but they did not realise he had not been screened for other possible haemoglobin variants. It was only when the newborn test showed the baby had SC disorder that they discovered the father was a carrier of haemoglobin C.

It was a shock to discover the baby had SC disorder when they thought they were not at risk, but…

Age at interview 35

Gender Female

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Then we got married, had a baby, and went back to Nigeria. And then a letter was sent to my sisters in London. So they phoned us and told us that my son is actually SC [has haemoglobin SC disorder], so that was like, ‘What? How? How can, how can he be, you know?’ And we were so confused and everything, and my husband had to do the test again. And when he did do it again he actually found out that he was AC [carrier of haemoglobin C]. So here he was actually living with it that he was AA [not a carrier], and then all of a sudden somebody’s telling him that hes AC, you know. And we were very upset about it.

And it was quite emotional as well, that time, because after trying so long to have a baby, and then all of a sudden you’re told that your baby’s SC, you know. But I think being a doctor, I think it was worse for him because he knew so much about it, you know. He could really understand what could happen with the child. And I think because of that, I think I took it badly as well, but then after some time we just calmed down about it. What’s done is done, you know, so you just have to move on and live with it.

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.

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Another woman had asked for carrier screening for herself in her first pregnancy but her partner was not screened because they did not realise white people can be carriers. She also asked for newborn screening when her daughter was born. She was quite surprised to learn her daughter was also a carrier, and had an idea that the risk would reduce in successive generations. (In fact if one parent is a carrier there will always be a 1 in 2 risk that the baby will also be a carrier).

She asked for her daughter to have newborn screening. She was surprised that she was also a…

Age at interview 36

Gender Female

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Afterwards. She was tested when she was born. Because having discovered that I had the trait, then when she was born I asked again if they could test her as well.

So, just tell me a bit how that happened, you know, what the process was when, when you were asking for her to be tested. Did, was it, was it offered to you? Or did you ask?

No, I asked. It wasn’t offered. But in which circumstances – perhaps they were checking anyway what her blood group was, and then I asked them to do it at the same time. I think it was the case for me that I was, I knew what my blood group was, but then I was told that they would check it anyway to make sure. And then I said, ‘Well, why don’t you do the sickle cell at the same time?’ And it might well have been the same for her. But no-one offered it.

Mmm. So it’s all been at your instigation, really?

Oh yeah, definitely.

Yeah. So, just tell me again about getting the results for your daughter. That, that was another card?

Yes.

And were you surprised by that? How did you feel?

I was bit more surprised than I was for myself. For some reason I thought – I don’t know why – I thought that the further down you go, down the generations, then the less likely it is to find the trait. So I thought that perhaps she wouldn’t have it. I don’t know.

Does it worry you, for her future?

Not really. It will if I find out that there are consequences which I’m not aware of at the moment. But it will worry me, of course, if it turns out that she marries someone who’s also a carrier. But at this point it’s a bit early to worry about that, so no, not really.

Footnote if one parent is a carrier, every child will have a 1 in 2 risk of also being a carrier. This risk does not change from generation to generation. The word ‘trait’ is sometimes used to describe carrier status.

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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...