Interview AN24

Age at interview: 33

Brief Outline: Family history of Down's syndrome. Had amniocentesis in both pregnancies to rule out Down's syndrome, even though nuchal scan results were low risk.

Background: Children' 2 (aged 3 and 18 months), Occupation' Teacher, Marital status' Divorced.

She was anxious about her family history of Down's syndrome, although genetic tests showed no evidence it was inherited.

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 he's not. He's 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.
 

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

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.

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.

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 Down's 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 would've 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 there's a lot of other health problems are, which are associated with Down's syndrome where the risk is much greater if you have Down's syndrome than if you're Joe Bloggs, but obviously Joe Bloggs can get these things too.
 

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

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 he's 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.'
 

Parents need to know early enough about nuchal scans to be able to book privately if necessary.

The first appointment actually was very good. They came to my house, spent a long time booking me in. That was good. I didn't actually see the midwives with my first pregnancy until I'd had the nuchal fetal scan. 

They didn't do booking in till twelve weeks, which is quite late, really, in the day, when it basically means that people can't have a nuchal fetal scan. They don't even know about it. But it's not offered within that area on the NHS, so you have to really be informed to even know it exists which is really bad, really bad.  

Perhaps they have a cut off, and they do booking-in later if they're over thirty five or something. I don't know. But within my experience of knowing people within, from locally, from, you know, mother and baby groups, just meeting people down the playground and things, it's a late booking-in and people didn't even know it existed. You know, the average person didn't even know it existed or they'd heard about it from a friend, not from health professionals.

Seeing her baby during the nuchal scan was a wonderful experience which made pregnancy seem real.

I was, I mean the first time I clapped eyes on my first child I just couldn't believe it, how baby-like and how detailed. I mean that nuchal fetal, that's the best scan you get. All the other scans - I mean, the local hospital scans were very crummy resolution - are just awful. 

It's the best scan, I think, that you really see your baby. I mean, a) it's the first one. Oh, I mean, also I'd been told drink a lot of fluid beforehand, and when she looked at it the first time, the very first scan I had, she was just seeing fluid and fluid and fluid, because I hadn't gone to the loo. I was busting and I'd drunk, like it said on the literature, I'd drunk two litres or whatever, two pints, a litre. 

And she - I thought, 'Oh, maybe it's a phantom pregnancy. Maybe it's not really there, you know. Maybe it's just my hormones, you know.' And you know, it happens.  And then when she'd actually found it, 'Oh okay. I am pregnant. This isn't just a phantom issue, you know.'  

So that was just a bit of relief, really, just to see, to see him there, you know, see he really existed and was happening. And no, I did enjoy it. It was lovely to see both. No, definitely, it was still lovely to see them. I did have this issue I was trying to hold myself back a bit emotionally from getting too carried away until I got the all clear. But I definitely still enjoyed my first sight of them.

Amniocentesis did not hurt much but the sensation made her jump at one point.

I'm one of these people that likes to look, like when if I donate blood or something, whenever there's needles. You know, the sort of conventional wisdom is, 'Look away.' I'm like, 'I'm not looking away. If I can see what you're doing and I can see it going in then I'm in, a bit more in control of the situation and I can psych myself up for it.'  

Otherwise you're just sort of, you know, I've got no idea. You know, it's a sort of 'When are you going to torture me next?'. So consequently I wanted to see. So the consultant sort of positioned the scan machine so that she, I was able to see the picture of the needle and the fetus, and see what was happening.

And I think they just put a little sort of numbing cream on your stomach, Bonjela-like, and just to numb the actual piercing of the needle through the stomach. So I had to obviously lie quite still. And then she put the needle through my skin and it felt like, similar to a needle going through a skin for other injections and what have you, nothing overly different to what I would have expected, except deeper. 

And so I felt that prick going in, although it wasn't painful, but I could feel, had the sensation. And then it moved in, and then it seemed to be moving through nothing. There was no resistance as she was continuing to push it. And then I could feel it on like a second layer of skin underneath, but this skin was much harder than the skin on the surface of the body. And she sort of pressed it and pressed it, and I could feel the pressure and feel the pressure, and then suddenly 'phut', it went through and it hurt a bit.  

And I jumped - which obviously you're supposed to keep really still. Here's the needle, here's the fetus, you know. You don't want the needle to go anywhere near the fetus, and I just literally jumped, because it was really shocking. It went sort of, you know, it was pressure, pressure, pressure, and I just thought, 'Oh, she'll be sucking the fluid out now', and she wasn't. It was, it was the, literally the amniotic sac, very tough cookie. 

And then she'd managed, and then when she punctured through that it, you know, the, it really - it hurt a bit, but it wasn't so much the pain that was a problem. It hurt a bit, it wasn't hugely painful. It was the fact that it was this kind of, a major sort of pop through, you know. Pressure, pressure, pressure, pressure, pop. And I was just like, 'Oh, my gosh,' you know, sort of, 'What are you doing? You're getting straight into my very essence of being, you know."

And then obviously I jumped and she sort of said, 'Oh, you know, it is a bit of a pop, you know. And it, that was going through.' And obviously at that point you realise just how invasive it is, really.