Special reasons for wanting antenatal screening

Special reasons for having a scan include:

  • A family history of health conditions that scans can pick up
  • Previous pregnancy-loss (miscarriage)

Family history

Three women we interviewed had family members born with health conditions that can be diagnosed through screening. They said that they would not have continued with their pregnancy if the same condition was found in their baby. They didn’t feel the same about other conditions, though (see also Attitudes to disability and termination).

One woman’s brother had severe learning disabilities and no cause had been found. She’d also had an early miscarriage. She was impressed with the genetic counselling and testing she was offered.

Her brother’s unexplained severe learning disabilities made her worried about screening and…

Age at interview 33

Gender Female

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But I quickly became pregnant again and we were very excited, but at the same time slightly nervous that one, I wouldn’t miscarry and two, over this issue of screening because of my brother.

And my brother – at which point I should probably explain about my brother. I have an older brother who is four years older who has severe mental disabilities and also is, displays autistic behaviours, and his intellectual age is of about a 3 year old.

He can’t talk, he finds it very hard to socialise in normal situations, and because my father died when I was very young hes had to live in a state home in Australia. And that’s been very tough on our family, and theres no known reason why he is the way he is, so we don’t know whether it’s genetic, we don’t know whether it was something to do with the birth, we don’t know whether it was something to do with what happened during pregnancy.

So there is this kind of constant uncertainty that sort of hangs over you and it is very upsetting growing up in that kind of environment. And also being I think around a lot of other families who’ve had to deal with severe mental disabilities and it’s not easy.

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She was impressed with the genetic counselling and testing she was offered, and found it reassuring.

Age at interview 33

Gender Female

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What we did is in a sense we went to see the specialist, we talked about my family tree. So it wasn’t just about my brother, it was really looking back to see if there were any other kind of problems. And I had actually been through that experience when my sister had got pregnant and wed all gone off to the specialist there, and it was a very kind of similar experience.

And there is no one else in the family tree, which would suggest that it’s not genetic, but then you never know. We then talked about really what could be done. I also brought in pictures of my brother, which I felt kind of silly doing.but the specialist actually found them very useful, because they’re ways of picking up certain types of syndrome.And what was very good about having the photos there is because those syndromes tend to result in particular physical characteristics, she could then look at them and say, ‘Well, it doesn’t look like this. It does look like that.

So we talked through that, and then the decision was that my brother had actually been tested for Fragile-X about three years ago. And again with these tests, they’re not definitive but the suggestion was that no, he didn’t have Fragile-X. And so there was a feeling that there wasn’t much use testing me.

So I went away, I had a blood test, I set up the nuchal scan test – and then I got back and I discovered my mother had been chasing around for my brother’s records about this test. And it had turned out that in actual fact that test hed had was on an old technique, which had thrown up many false negatives, and that a new technique had now come in which had less false negatives with it.

And so I immediately faxed the hospital and said this was the case, and they immediately said, ‘Oh, and well test you for Fragile-X as well. And I was very impressed with that. They could have just said to me, ‘Oh, look, it’s fine you know. More than likely it won’t be a problem. But they just said, ‘Well test you immediately as well.

And did they test your partner for anything as well?

They didn’t because there wasn’t really anything in his family. And it really, as I said, it was really just about my brother that was the kind of anxiety. And they were very good in terms of letting me know how long those tests would take to get back, and they were very good, the specialist actually rang me to let me know the results, which were fine. Well, I mean, they were fine in the sense that they didn’t suggest that there was any problem.

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Another woman had two family members with Down’s syndrome and wanted to find out if her baby was affected. Genetic tests had shown that they did not have the rare inherited form of Down’s syndrome, but she still wanted to find out.

She was anxious about her family history of Down’s syndrome, although genetic tests showed no…

Age at interview 33

Gender Female

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Had anybody ever talked to you before that about genetic risk? I mean, had the family been counselled or…?

Yeah, well, my brother’s got Down’s syndrome, and my maternal aunt, my mum’s sister, had a Down’s syndrome although she died as a baby;

So when I was about ten I went and had a blood test, along with my brother and my mother, to see if he was a translocation Down’s syndrome because that is the only hered-, directly hereditary type of Down’s syndrome. And hes not. Hes a straight trisomy 21;

So officially any genetic risk I haven’t, I have no increased risk compared to any other person, healthy woman of the same age as I am at that particular time. However, we haven’t continued, we haven’t cloned all of the human genome;

We haven’t decoded all of it, and to me the fact that my mother and her mother both had Down’s syndrome children I think it’s pretty unlikely that there isn’t a gene somewhere that is coding for increased probability of either producing a cell with two twenty-first chromosome bits on it in the egg or not detecting that problem and not doing selective abortion – you know, the body not doing selective abortion when it should.

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One woman’s mum had a baby that was stillborn with water on the brain (hydrocephalus). In her first pregnancy she was offered an early scan. The scan didn’t find any problems with the baby’s brain. She was reassured but it was distressing for her mother to have to think about it again.

She was referred to a prenatal diagnosis clinic because of anxiety about a family history of…

Age at interview 29

Gender Female

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So my mothers story didnt quite add up somehow. She, it just wasnt clear what had been wrong with the baby. She knew that the baby had had hydrocephalus, but she didnt know what sort. And so I said this to my GP and my GP said, "Well Im just sending you straight to prenatal diagnosis."

So we went there, and they said, "Well lets say this babys got some form of hydrocephalus – do you know if it had any other neural tube defects?" So I had to say "No, I dont know." And they said, "Well do you know if it was a boy or a girl?" I said, "I know it was a boy." And the only inheritable form of hydrocephalus, the only sort of genetically disposed form that can be passed on that would, could possibly have affected me only affects boys, because its X-linked.

So she said, "Well, in that case probably we ought to try and find out what it was." So they tried to get my mums old medical records out of [specialist hospital] in London, which turned out to be a complete wild goose chase, and they initially said that they were in the bit of the building that had burned down so we couldnt have them and then they said oh no, theyd got that wrong, they were on microfiche but they couldnt read that.

So it took about two months to get a print-out of these records. And of course by this time the pregnancy was ploughing on, and so they decided to just do a scan at something like twelve or thirteen weeks, I think just to rule out anencephaly – although that didnt fit with hydrocephalus so I dont know how that – but anyway, because we didnt have the information the doctor just said, "Look, lets just do a scan at thirteen weeks."

Because what we didnt obviously want to do was find out something late. And of course that was completely normal. And then when we eventually got the notes about a month later, it turned out that it was all completely nothing that couldve ever conceivably affected my mothers children, that the baby had actually had a kind of tumour in its brain, and that the hydrocephalus was all secondary to that, and that actually advice about folic acid was entirely irrelevant and wrong.

So it all turned out to be nothing that could affect me. But it was quite a traumatic experience, almost not so much for me but for my mother, having to kind of re-live it again. And she never saw her old notes or anything like that, but she was made to think about it in a detail that she probably had chosen not to for years and years and years. And I didnt read the old notes either, but the consultant who did said they made pretty awful reading.

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Other women thought about their own mother’s feelings too. One decided not to tell her mother she was pregnant until she’d had the results of the nuchal fold scan at 12 weeks. Another waited until after she had had genetic counselling.

She decided not to tell her mother she was pregnant at first because it would make her anxious too.

Age at interview 33

Gender Female

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Well, I told my partner straight away, and then I didn’t tell anybody at all, because I didn’t want to acknowledge that I was pregnant until I had had the all clear that I had a healthy child, and not one who was going to have Down’s syndrome, because then I wouldn’t have had the child. And I didn’t want anyone to know about that, most specifically my mum, because I didn’t want her to go through it with me;

If I was going to do that, I didn’t want, I wanted to save her the pain if that was going to happen. And I felt, well, if I wasn’t telling her I couldn’t tell anyone apart from actually my partner. In the event I did tell other people. I had a nuchal fetal scan and after that it was a very low risk, and so at that point I did tell a couple of my closest friends and my mum and dad. But I didn’t make it general knowledge until after the amnio, even though my closest knew;

So I didn’t really want people, I didn’t want to acknowledge that it was really happening for definite, as a sort of self-protection thing. I was very hopeful that it was going to happen. I was very hopeful everything was going to be okay, but I didn’t want to tell the world just in case it went wrong. I thought it was unwise to do so.

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She was anxious about her mother’s feelings about genetic testing because of a family history of…

Age at interview 33

Gender Female

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There was concern about the genetic problems, and tied up with that was also the fact that I knew that I also had an older sister who’s had two children, and when my sister was pregnant with those two children, my mother was incredibly upset and incredibly anxious about whether they were going to be OK.

And so I felt that one, I wanted to do what I could to make sure that if there was a problem that I was going to know about it. But two, I also felt that I also wanted to make sure that she felt as happy as she could about the experience.

And so one of the things we had decided – my husband and I – early on is that we would arrange any screening before we told my mother, to make her feel that we were doing everything we could. So it was a very mixed, a very complex kind of emotional thing that was going on in those early weeks around screening.

I think in her context it’s very complex, because it’s also tied up with the fact that she lost a husband and she had to raise three children by herself. But I think also because in a sense the experience with my brother was that when he was born she felt immediately that she knew something was wrong, but she was told that he was fine.

And it was only when he started not, you know, he didn’t sit up, all these kind of things didn’t start happening, that they said, ‘Oh, we think there is something wrong. And they kept revising how serious it was. And so I think for her it’s just the kind of fear – and a very natural kind of fear.

What was interesting though is once we did all this arrangement and I rang her up and I announced I was pregnant she was over the moon. And in actual fact she said, ‘Well, I’ve actually dealt with, you know, ever since your nephews were born I’ve actually dealt with these issues and I feel far more at peace with it. So it was a kind of anxiety I probably didn’t need to have.

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For some people the results of screening and genetic testing were enough to reassure them. One explained that she felt satisfied she had done everything she could.

She felt reassured she had done as much as she could by having screening and genetic testing.

Age at interview 33

Gender Female

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And of course the other thing with statistics is that, you know, ultimately they’re all based on kind of past experiences and not your experience, so you have to recognise that you’re dealing with a kind of uncertainty. And that was made very clear.

I mean the other aspect of screening is you can only screen for certain things. And I kind of knew that going in, and again that was made very clear to us. And so in a sense if you go through the screening process and it comes up saying, you know, there doesn’t seem to be a problem, that’s not the end of it. But at least you sort of feel like you, I have done everything I had been able to do. I’m not going to get any surprises which in a sense I could have prevented.

I was incredibly impressed with her [the genetic counsellor], because she was just a very compassionate person. And she wasn’t promising that she could say everything was going to be all right, but I didn’t, in a sense you don’t so much worry about that because what you’re feeling is you’re saying, ‘OK, I’ve done what I can do, and I’ve been through this process of thinking about this. And so it was reassuring in that sense, rather than saying, ‘Yes, the baby’s going to be fine.

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Another woman with a family history of Down’s syndrome wanted to be completely certain that her baby was not affected. Her screening results showed a low chance of Down’s syndrome, but she wanted a diagnostic test to find out for sure. She eventually had amniocentesis, and in her second pregnancy decided straight away this was what she wanted.

She decided not to have a CVS (Chorionic Villus Sampling) when her nuchal scan screening results came back low chance, but was still considering amniocentesis.

Age at interview 33

Gender Female

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He referred me to a London specialist hospital, and I went up there and had a nuchal fetal scan, with the full expectation of having a CVS at the same time, at the appropriate number of weeks, which was just over eleven weeks. And obviously the CVS carries a 2% risk of miscarriage and the consultant who I saw, a lady consultant, was very, very good at helping me grapple with all the different risk factors, obviously on a purely intellectual level.

You see, the issue that I had was on a purely intellectual level, it was absolutely ridiculous to put my fetus through a 1 in 50 chance of not making it when the risk according to the nuchal fold examination and my age, my combined risk, was 1 in over 5,000 that there was a Dows syndrome risk. Even when you took my age out of that equation it was still a very high, a very low risk, about 1 in 1,000. Maybe it was slightly less than that but it was certainly a very low risk.

However, I didn’t really want, I wasn’t really sure that I could continue with the pregnancy without knowing for certain, but I didn’t want to risk, you know, losing a perfectly healthy fetus, which he probably was. So I found this quite difficult, and I’d gone up in the full expectation of having a CVS, but my partner really didn’t want me to have it, because of the risk of miscarriage, and I was very mixed about it once the results had come through. I was quite clear that if at that point it had looked average or below average risk, I think I woulve gone ahead with it but it was very low risk;

So I talked with the consultant and she – I was going to say persuaded, which is the wrong word, really – but we sort of reached, helped, she helped me reach a sort of compromise situation which was that as the risk was very low, instead of going through the high risk of a CVS, and given I was only twenty-nine, that instead I would go for an amnio – well, I would leave the decision but I could always have an amnio later which at least was a lower risk of miscarriage, but still would give me a definitive answer;

But in the meantime I could go back a few weeks later and she could do a soft markers check. So soft markers is whereby theres a lot of other health problems are, which are associated with Dows syndrome where the risk is much greater if you have Dows syndrome than if yore Joe Bloggs, but obviously Joe Bloggs can get these things too.

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A further scan showed the baby was developing as expected, but she still wanted amniocentesis to know for certain.

Age at interview 33

Gender Female

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And I went up and I’d decided in my head if just one soft feature looked slightly to worry, anything to worry, just slightly, then that was it. I’d have the amnio straight away. And if everything was fine then I, then that would be fine, and I would deal with it, and I would say that I was pregnant and I would just move on with the pregnancy and accept that everything was fine;

And I went up and all the soft features were okay, and I was still talking about having an amnio. And the consultant, she gave me some time to go away and think about it and talk to my partner and then she talked to me about it;

And I remember saying to her ‘What do you think?’ and she said ‘Well, I shouldn’t really say what I think, because it’s nothing to do with what I think. And I said ‘Yes, but I’d really value your opinion on this, although obviously it’s just your opinion. And she said, ‘Well, I don’t think for one minute that this fetus, this baby is going, is, has Down’s, not for one minute;

But I don’t think that you can live with the uncertainty of not knowing for definite, and you have to get through another twenty-two weeks of pregnancy, or twenty-four weeks of pregnancy and I don’t want you to be worried all that time, all the way through to when it’s born, when hes born (we knew that then), that things are okay.

I thought she made a lot of sense, but sort of time was ticking a-by and I had to make my decision. I was also getting married on the Saturday, and she said to me, ‘Well, really the chances of this child having Down’s and you needing to – you know, you’ve said’ – I’d said quite clearly from the start that I wouldn’t, I would opt for an abortion if I didn’t, if he was Down’s;

So the issue of trying to find out as early as possible wasn’t a really big issue, because he almost certainly was okay. It was almost just like a double check. And yes, there was that vague chance that he wouldn’t be okay, and that was niggling at the back of my head and that’s what was messing me up, and it was an emotional need that I had to address;

But as everything had, all the screening had come back with a very low risk, that really to think, ‘Oh well, you need to find out as soon as possible, because if you’re going to abort a child it’s better to do it as soon as possible before they’ve developed as much isn’t a huge issue because it’s almost definitely going to be okay.;

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Previous miscarriage

Loss of a pregnancy (miscarriage) could affect whether people wanted to have screening. Several people we talked to had experienced miscarriages. Some had not been aware there was a problem until they came for a scan at around 12 weeks.

She found out at a scan that her first pregnancy was a blighted ovum (the baby had not survived).

Age at interview 35

Gender Female

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Well, I’ve always been very keen on scanning, because the first pregnancy I had, I went for a scan at 14 weeks, and they discovered it was a blighted ovum, which means basically theres a womb that is the size of 14 weeks but the fetus has died almost at the chromosome level, so theres sort of nothing in it.

But your whole body is in the process of pregnancy, so I’d had, you know, the morning sickness, the tiredness, every symptom of pregnancy, but yet there was no baby there. So basically after that sort of major shock, complete disappointment and sort of heartbreak, for all my other pregnancies I’ve been scanned between sort of 7 and 8 weeks, just to make sure, you know, that something has happened.

And also because I feel so sick when I’m pregnant, to go through 14 weeks and theres kind of absolutely nothing is quite hard work. So I’ve always been quite pro going for scans and having a certain, you know, the information that they’ve got to give you.

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This experience made them feel nervous and negative in later pregnancies. Some had earlier and more frequent scans to reassure them. Having already lost a baby made some people want to have every test available, but it made others unsure.

Her experience of finding her first pregnancy had not survived made her nervous about screening…

Age at interview 35

Gender Female

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And how do you think that first experience has affected the way you think about antenatal screening?

I think it’s always made me incredibly nervous before every scan. I mean I’ve never seen it as a sort of joyful thing. I’ve always been having my fingers crossed, thinking, you know, ‘Please, it’s all alright, or theres something there, you know. Theres not something wrong. I mean, I’ve never sort of taken the family along. It’s always been a very sort of medical thing that, you know, I find very stressful, because of that sort of, definitely because of that first experience.

I think sometimes with babies, when you really really want a baby, you know, you’re so nervous that it’s not going to work out, that you’re sort of always praying and hoping, that each scan is fine. You just don’t want that bad news. And I think it’s sometimes hard to let go. If you’ve had a bad experience like that, it’s hard to let go of it, and see each pregnancy as an isolated situation and that, you know, it probably won’t happen again. But you just sort of have that fear.

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One couple had experienced miscarriages. They had the nuchal fold scan to check for the likelihood of Down’s syndrome and other genetic problems in the baby and the result was low chance, but high for their age. Amniocentesis, a diagnostic test, carries a small risk of causing a miscarriage and they decided not to take that risk.

The fear of losing another baby after two miscarriages affected their discussion of their Down’s syndrome screening results.

Age at interview 43

Gender Female

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MotheI started to fret a bit about it, because d felt very positive and,Well, yeah, cool – les go ahead. This is, it’s fine, it’s reduced, m sure thas a positive thing But then I started to get doubts and not understanding what the figures meant. So I rang Antenatal Results and Choices, and they were just absolutely brilliant.

It was, she was so brilliant, the woman I spoke to. It was, because I said, I explained what had happened, and where I was at in my thinking, and we talked about it and I kind of started to say, "Well, OK, so it’s quite a high risk, but we could go and have amniocentesis. And I know thers a 1 in 99 chance that I would miscarry if I have amnio, and it might tell me thers nothing wrong with the baby and ll miscarry, and I couldt live with it, I couldt risk losing it

And I just felt,Well, the nuchal fold scan says,Yes, thers a reduced, you know, reduced, lengthened the odds, if you like, that it was going to be oka. And d rather, I then decided – and I think we both sort of felt this after talking about it – that actually I would rather have a baby with Dows than risk losing a baby that was OK.

FatheA perfectly healthy baby, yeah.

MotheAnd the chances were that my baby would be perfectly OK.

FatheAnd I guess also the fact that yod miscarried twice before sort of made you feel…

MotheMade me feel more scared about it. And I just felt,Well, it’s going to be, whatever happen – I think after wd talked about it and talked about it – I just felt,Well, whatever happens wll have a baby. And it might be a baby with Dows syndrome, but thas OK. Thell still be our baby, and wll have a baby

So I put all of this thinking, but I felt I was not making very rational decisions. I felt I wast necessarily making that decision very rationally, that I was being quite hormonal and that it was not really a, that it wast a very sound decision. So I rang Antenatal Results and Choices and basically just talked through all of this with the person on the phone. And she said, "Well, it sounds like yore being perfectly sensible, thas absolutely right."

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* See also our section on Screening for sickle cell and beta thalassaemia.