Antenatal Screening

When we saw the consultant immediately after the scan, he talked to us a little bit about it and said, you know, 'That means that if you had 21 babies, one of them may have some sort of problem'. And he also said that, you know, people that he'd known that had had a risk of 1 in 2 had actually turned out to have perfectly healthy babies. 

But still, obviously as a prospective parent you focus very much on the one. And it wasn't until I mentioned it to a friend or discussed it with a friend that he said to me, 'Well actually that still means that you've got a 20 out of 21 chance of everything being fine.' But it's just human nature to focus on that negative, rather than to focus on the positive, I think. And that's obviously what we did until we had more information.

So you were offered CVS?

Yes.

Did you take up that offer?

I did. That was in a bigger hospital where they have the facility to do that. And we arrived for the CVS and that's when they said to us, 'Would you like to have a fetal heart scan as well?' And I sort of thought, 'Well, if it's on offer of course we should have it.' I didn't, don't think I ever expected anything to show up. But yes, we had the CVS there as well.

Because at this stage you were thinking, what you were being tested for was Down's?

Yes, some sort of chromosome problem. It didn't even enter my head that there might be a problem with the heart.
 

Father'  And they got my wife up there onto the table and they started doing the scan, and they were just sort of rattling off this list of things that they'd found, wasn't there?

Mother'  Yeah.

Father'  They found a clear bilateral cleft of the lip and palate, which was both sides here missing. He had clear dilatation of the kidneys. They were concerned he had fluid at the back of his brain.

Mother'  Which was . . .

Father'  I can't remember what the expression for that is.

Mother'  Posterior horn.

Father'  That's it, posterior horn problems.

Mother'  And...

Father'  His knees were problematic, he had some problems with the formation of his knee joints. And they sort of came to us then, and they said, 'Look, you know, we're fairly sure there's a chromosome problem. We're fairly sure it's either  trisomy 18, which is Edwards' syndrome or trisomy 13, which is Patau's syndrome'.  

They said, 'We're really 99% sure it's Patau's syndrome. To confirm this, could we do an amniocentesis?' And at that point, you know, you've got enough people telling you you need to have an amniocentesis, you do what you...

Mother'  We had the amnio.

Father'  We had the amnio done. I mean, they said, you know, they didn't force us to have it all.

Mother'  No.

Father'  So we had...

Were you happy to go ahead with that, then?

Father'  At that point, yes.

Mother'  Yes. You know, I'll be honest, I needed to know at that point. I'd had then, you know, two lots, I'd had three lots of scans' two at [local hospital] and one lot at [specialist hospital]. None of them were totally happy with what they'd seen, and I needed to be certain, I needed to be, I needed to know.
 

Father' One of the elements that went through our minds was with CVS there is a risk of miscarriage.

Mother' Yeah.

Father' Which is, is it 1 in 100?

Mother' Yeah. They say 1 in 100.

Father' There's a 1 in 100 risk of miscarriage, albeit that's the nationwide statistic. And although they don't publish it, the impression we get is that the hospital we went to, probably because of the people who are involved there, actually had sort of a better risk analysis, if you like --

Mother' Yes.

Father' Of not having miscarriages and so on.

Mother' Our consultant explained to us that it's a national average, and they group in doctors that do it once a year to doctors that do twenty a day. And where we went they're doing them all day. And he said, “Really, you know, we can't publish the actual risks, because we have to go off of a national average”  

But he said, he mentioned that he does a certain procedure, that it's a 1 in 100 risk, but he said his actual risk is 1 in 4000. So that reassured us. But we were terrified that we would miscarry a healthy baby by having this invasive test.

And we were frightened, but the odds were so poor that we thought, “Oh, we're going to have to risk it”. The risk obviously was worse for an abnormality than it was for the miscarriage.

Father' And that's actually an interesting point, because we have another friend of ours, who does have a Down syndrome baby.  And her analysis, her initial screening analysis I think came out at something like 1 in 400, and she made a judgement call at that point not to go on and have CVS or amniocentesis, and has had a Down syndrome baby.  

And so there is a judgement call between, you know, the 1 in 400 risk, where you may take a view on it, down to where we were, which is 1 in 32 on the triple screening, or if you looked at the blood work, of 1 in 6.  

And I think, you know, we didn't have any real doubts about going for it, albeit that, you know, then in the back of your mind there's another element, you have, “Oh, what if we've got a perfectly healthy baby and we lose it because we've gone to do this checking?”  

But it was only a small element in the back of our minds, rather than being a serious doubt about going ahead and getting the CVS.

I very nearly said no to it, actually, because I just thought, “I just, I'm not interested in knowing.” But then I thought, well, I better had.

What made you in the end go ahead with the amnio, having thought, “Maybe I won't”?

Well, it was just difficult not, it was very difficult not to - to say no, if you see what I mean. Because I think just the general assumption by people in the medical world is, “Oh, you've got this result - oh, and the next step in the process is to have an amniocentesis.” 

I'm not, thinking back on it, I'm not so entirely certain it was ever asked in such a way as, “Do you want it?” It was more sort of like, “When are you going to come in for it?” type thing. Not quite that way, but it, I think that it would have generated a lot of sort of surprise and bewilderment, if I'd have sort of said, “No, I don't want it.” Do you know what I mean?

Mother' We decided not to go for the amnio without really any discussion between us. We just, 'No, we wouldn't do that. There's a risk and I couldn't possibly lay there and have a needle put into my tummy.' But we decided we'd go for the option of having more heart scans, or having heart scans to pick up other soft markers as well that would come with Down syndrome.

So you'd decided against the amniocentesis. Then you went for a further heart scan. What was that?

Mother' That was arranged through our local hospital, to go up to a more specialist hospital, and that was meant to be in two weeks' time. Unfortunately they got the dates wrong. They wrote them down wrongly for us.

Father' So we turned up on a day later, wasn't it?

Mother' Yeah. We couldn't see the cardiac sonographer but we saw one of her assistants or another sonographer, who scanned us and had a look at his heart. She very carefully checked off different parts of the heart and said that she couldn't see anything wrong, but she wanted her colleague to check everything else. 

But she made no commitment to the fact that he probably had an AVSD [atrio-ventricular septal defect], but checked the other parts. So we went back, I think it was about a week later for another appointment, and that was when we were told that [son] had an AVSD.  

We were asked to think very long and hard about having amniocentesis. It was probably a bit more than just being asked to think very long and hard, probably a little bit pushed. I think we had to go back two weeks later or the week after, and actually say, "Look, this is all the research we've done and this is why we've decided we don't want it." I think if we'd just gone back in there and said, "No I don't think we want it," I think they may well have pushed a bit more.

Not because they wanted us have a termination or to go ahead with the pregnancy - I think they wanted to make sure that we were making our choices on an informed decision, not just wandering because that's the way life was taking us.
 

Father' I suppose the other factor as well it didn't really matter whether it come back Down's or not, because we always sort of knew that Down's wasn't an issue, so why have it?

Mother' I think by twenty - well, it must've been about seventeen, eighteen weeks of pregnancy - you've already changed mentally and physically so much. And I'd got so attached to my little button already. You know, we'd been going for scans for two weeks, and then to wait another five weeks for the amniocentesis results to come back, I think it's so far into pregnancy I couldn't have done it.

And yet you did have second thoughts for a while.

Mother' Yes.

Father' That was mainly just because of the, when it come back with the heart defects, that was the only thing.

Mother' I went to go and speak to a friend of a friend who had had a baby with Down's syndrome about thirty years ago. He only lived unfortunately for about eighteen months. He passed away with leukaemia. And his mum was a theatre nurse, worked in hospitals all her life and she felt that it wasn't fair to have a baby who'd have to go through open heart surgery at his age.

There was, at the time they were saying he'd need heart surgery between three and six months of life. She'd also gone through - every pregnancy she had had, she terminated if the baby came back with an amniocentesis of positive. That's when we - I came home that day, very emotionally draining day, and said "Okay we do have two choices."  

Her aim of that day was to make me have an amniocentesis, to make sure I was making my choices on the correct information, really. I still couldn't go ahead with the amniocentesis, but it did make me think, 'Okay, we do have two choices. Was I just letting myself be carried along? Am I being fair to my baby to have open heart surgery? What's his future?' 

And we had to go back to the hospital I think on the Monday after that weekend, and tell them whether we wanted the amnio. I think by the Saturday morning I rang the GP in floods of tears. I couldn't stop being sick, I couldn't stop crying. You know, "Give me some pills, calm me down, I can't cope."  

And he just said to me "Look, you've told me Down syndrome isn't a problem for you, you've told me that the heart surgery has a ninety five percent success rate. What's your problem? Enjoy your pregnancy." And I think that's really what I needed to get on with the pregnancy. 

I was already so attached to him, and to be throwing up, and actually physically vomiting at the thought of not having my baby, that should've been enough to tell me that that's not an option for us.
 

So by the Monday we'd reached the decision. I think we still talked about it on the Sunday but really we knew that we were going to go ahead and so we went back on the Monday to [hospital], to the fetal medicine unit, and told them our decision, and that was fine.  

And then they offered us amniocentesis and said that there was a chance, although it seemed that the baby looked well in all other respects apart from the heart, and they suspected that it was only a heart defect, there was a chance of it being part of other syndromes and other complications. 

So, there and then I had to make the decision, did I want the amniocentesis or not before we decided to carry on and they said, 'You know, we'll get the result very quickly for you, we can probably phone you tomorrow or the day after,' I can't remember. And to be honest at that point I thought, 'Well if our baby's got a 50/50% chance of surviving anyway, I'm not so worried about the one in a thousand chance of negative side effects of the amniocentesis so, yes, why wouldn't I do it, you know?' And so we went ahead with that. And from that point we decided, that was when our decision was made.

I'm interested that you, you went ahead with the amniocentesis despite having already spent a weekend thinking, 'We're going to ahead with the pregnancy.'

Because I didn't know what these other syndromes, and it's also fear based, isn't it, really? I mean, they said 'There's all sorts of other things that, you know, could be, you know, we should check', and, you know, you just sort of think, 'Oh, my goodness, well what else,?'.
 

The whole experience of going to the larger hospital was just incredible, the difference. And I think when we arrived there we realised the treatment that we'd been getting at the local hospital in comparison was just beyond belief, really. It was clean, the people knew our names, they were expecting us. 

The Matron there was fantastic, sent, put us into a private room and gave us a cup of tea, explained what was going to happen with the CVS. It was a whole different world from where we'd been the day before. I felt very looked after, emotionally and medically. 

And then we went into the room to have the scan and the Professor, who was a Professor of Fetal Medicine, came in, introduced himself, actually shook my partner by his hand and called him his name for the first time, which was very, very important, because he hadn't really been acknowledged at the local hospital. He then sat us down and explained what he was going to do and about the CVS, even though, he said, 'You've already had some explanation, I'd like to explain what I'm going to do.' And it was just a whole different world, really.
 

I think I'd thought in my mind that I might like amnio, just for, you know, to be more sure. And then I saw something on the TV in fact, where - I think it was about people who were having recurrent miscarriages, and there was some centre or clinic in London and there was a chap, a Greek doctor there and he was, he was helping a lady. 

I was watching this programme, because it's the sort of thing you become fixated on when you've had problems, and it was so fascinating, that he was helping a lady and he said, you know, 'I think you ought to have amnio.' And she couldn't decide whether to have it, because of course it carries its own risk of causing a miscarriage, which, you know, is always something you need to consider.  

And what crystallised it for me was he said to her, 'What would be worse for you? Having a miscarriage or having a Down's baby?' And she was able to make the decision and I just thought, 'Yes, that absolutely crystallises for me what I want to do, and I want to have the amnio because for me it would be worse to have a Down's baby than it would to be, to have a miscarriage.'  

And my husband, I said to him, 'I think we ought to have amnio,' and he was like, 'Oh, I'm not sure,' and I said, and I explained that I'd seen this programme and how I'd come to my decision, and you know, that was how I'd viewed it, and he said, 'Oh yes, it's obvious, isn't it?' And he immediately, when I explained why I'd made that decision, and you know - because obviously it was our decision, not my decision, but I, that was my personal viewpoint, I suppose, my approach to amnio - and when I explained it to him, he agreed instantly.
 

Yes. It was my sister again who, I suppose at that stage I'd started discussing about, you know, or thinking about what was the blood test going to involve and, you know, her experience of it and everything. And she said, 'Well, I've got this video', that she'd taped I think off a programme that was on, about screening for Down's syndrome. And she said, 'Oh, you might as well have a look at it, you know'. 

And we sat down and we looked at it and that was the thing that decided because there was a girl on it who had had the blood test and she wasn't - they don't let you know if it's only a very low risk. They don't bother sort of letting you know, so she thought, 'Oh well, everything's okay', and carried on. And she was the one in something like twelve hundred who had a Down's baby, so she felt very let down by the system. 

And something just in my head at that point made me think, 'I've got to have the amnio.' So I didn't, and I didn't have that much faith in the blood test then, after seeing that. I mean, it's quite an oldish one, maybe sort of nineties, but even so it did make me think then. And that's what made me just decide to. I told the midwife I wanted to go straight for the amnio and they were fine about it.

Did she try and talk you through the issue of risk and what the statistics mean if you do a blood test?

Well, it's a very grey area, I think. Because they do even themselves, they admit themselves that it baffles them, because it's one in so many. And they told me it was something like because purely of my age, never mind anything else, it was one in two hundred and fifty chance, or one in three hundred, something like that - which they say is low, but to me that seems very high. 

So, you know, it is a bit baffling really. So no, to be honest it wasn't that sort of helpful because it is, it does sound too complicated, really, and it doesn't mean much to you, you know, I think, so.
 

You know, I just went in. Obviously I was nervous about it, because, you know, some people say, 'Oh, it doesn't hurt.' Other people say, 'Oh, it does', and, you know. And then of course the risk of the miscarriage afterwards. I mean, once it's done it's just like a waiting game then.  

We had actually paid. You could pay privately to have a three day result, because otherwise it's sort of like two, three weeks, you know, in limbo, not knowing. So we'd arranged that. So it went quite straightforward while we were there. We went in, but the doctor who was performing it, he was sort of surprised that I was so adamant that I wanted to have it done. 

He was saying my age, given my age and, you know, other factors, he said, 'There's more risk of you having a miscarriage than there being something wrong', more or less, he said. So we had a little bit of a, you know, a discussion about it in the room, but we still had made the decision and luckily we stuck to it. 

So it wasn't very nice, I must say. It wasn't, it was quite uncomfortable, but, you know, once it was over it was okay. But it was a bit worrying, really, about the doctor - I know he was probably just trying to do his job, but I'm just glad that we stuck to our guns really.