Getting diagnostic test results
Waiting for diagnostic test results to come back is an anxious time. During this period some people were starting, however reluctantly, to search for information about their baby's suspected condition and think through what they would do if they received a positive diagnosis. Others could not talk about it until they had definite information.
- Age at interview:
- Children' First pregnancy ended at 23 weeks, Occupation' Mother - Executive coach, Father - Chartered accountant, Marital status' Married.
And we came home, and my parents-in-law were coming for the weekend, and we just went into sort of overdrive, really. Not quite aware of what was going to, happening to us and I remember looking in the mirror when I came home, and I wasn't there any more. I couldn't, I couldn't see me in the mirror. It was someone else there. And that stayed for months and months and months.
And we spent the weekend just crying and crying and crying, and searching on the Internet for anything that we could find out about all these words that they'd said to us. And probably by Sunday night we had contacted a number of organisations, or got details of a number of organisations that could help us. And it was difficult to find the information. It's not easy, it's not easy to find. And we got details of SOFT [Support Organisation For Trisomy 13/18 and related disorders], which is an organisation for people with trisomies.
We got information from SANDS [Stillbirth and Neonatal Death Society]. We hadn't found ARC [Antenatal Results and Choices], we couldn't find, we didn't know they existed and we couldn't find ARC at the time. And we'd read and we'd read and we'd read information. And there was one web-site that we found they gave you a number of the genetic conditions and sort of a tick-list in terms of what was wrong with a baby that gave it that particular condition, and so we'd decided by the end of Sunday that our baby did have a trisomy 18, and every single one of the things that trisomy 18 indicated was everything that was wrong with him. There wasn't anything that wasn't there.
And then we continued to read that babies with that condition just didn't live. I mean they didn't, it's not like they had a chance of anything, really. They just, if they got, actually managed to make it through being born, which was traumatic enough for them, then, you know, without a stomach and a heart that didn't work, they just couldn't live at all. And I kept thinking all the way through the weekend, 'I wish you'd just die.' I wish he'd miscarried because of the amnio.
I wish that, you know, we could stop our suffering through natural intervention, rather than having to decide to do anything. And I remember my Mum came over on Sunday to see me, and she just said, 'Nothing is going to make this any easier.' And from Friday morning, when we were expecting the best news, it became, he became a person. He became a very special little person that we started talking about, and it just became so real, really.
And then we phoned the hospital on Monday and they hadn't got the results, and then we phoned on Tuesday morning and they hadn't got the results. And they phoned, phoned me at about Tuesday lunchtime and said, 'We've got the results back and it confirms that he's got trisomy 18', and could we come back on Wednesday to see the consultant? And we said, 'No, we want to see him today.' We just, you know, we were in agony. We just needed to talk to people and know what to do.
- Age at interview:
- Children' first pregnancy ended at 13 weeks. Baby aged 6 weeks, Occupation' Mother - Housewife Father - financial analyst, Marital status' Married.
I think we sort of just got on with the weekend, and I think we just didn't want to, we didn't want to talk about anything until we knew, until we knew for certain. I think we thought if we talked about it then we were saying, 'Yes, there's something wrong'. I know my husband was very upset.
I know that I, you know, but he tried not to show it in front of me, which was, you know, which was, it was very hard for him as well. But I don't remember really going through what we were going to do or anything. I think we were just waiting to see. I know I didn't go to work, I wasn't at work obviously, and I know some people that have gone to work and I thought, 'How can they?' But people, obviously people deal with it different ways. But I couldn't have gone to work, I know that, not waiting for that result.
Midwives can give the results of the test to people at home, at the antenatal clinic, over the phone or in a letter. A concern for many people was knowing definitely when they would receive the results and how, this should have been discussed with them beforehand. It was particularly distressing if results did not arrive when they had been promised, although in this case the news was good when it finally arrived.
- Age at interview:
- Children' First baby, 8 months old, Occupation' Mother - Home carer (formerly HR consultant), Father - HR Manager, Marital status' Married.
Well, we were told that the results would be available within about 3 working days. And I hadn't heard anything, and I was beside myself again with worry, waiting for the telephone to ring. I knew that they would be phoning me with the results and every time the phone rang I jumped. That was probably the worst bit of everything that I've sort of been through.
That was probably the worst period of all, because it did seem to go on for ever, and it went over a weekend. And because I hadn't heard anything I decided to call the hospital, and I phoned the number that I was given, or had been given, and whoever answered the phone just picked up the phone and said, 'Hello'.
They didn't say who they were or what department it was. And when I actually explained why I was calling they were actually very rude and dismissive and said, 'Well, you won't get the results for a CVS within 3 or 4 days, that's ridiculous. You'll have to wait at least a week', which was clearly wrong because the next day the phoned with the results.
So there was clearly some lack of knowledge there on the part of the person that was answering the phone, who was actually the receptionist at the hospital, at that particular clinic.
Did you ever mention that to anyone?
I didn't, and actually every time we went to that particular clinic, the same person, who was obviously the receptionist, was actually very off-hand. And they do actively seek constructive criticism. There is something on the wall that says, you know, 'Please write to the Director if you have any criticisms to make.' And I always planned to write, and I didn't actually ever get round to doing it, to be perfectly honest.
So it's my own fault for not following that up, but that was a big thing for us, because, you know, here we were turning up the first time, you know, for the CVS and actually feeling very nervous and very worried about what we might be facing, and the last thing you want to see is an unhappy face. I think that's maybe something they need to look at. And again, you know, we should have, we should have followed that up, but, once you've got the news that you need to know, you kind of forget about that bad experience.
So the next day they rang?
They phoned, yes, and they phoned quite late in the evening, actually. So, it was my husband's birthday and by that point we'd given up any sort of hope of hearing that day. We were literally getting ready to go out and the phone rang, and it was one of the midwives who rang with the results and told us that the chromosomes were fine.
And at that point I asked if they would tell me whether the baby was a girl or a boy, and they told me that, so that was nice to know as well. But that was absolutely overwhelming, because that at the end of the day made such a difference to us, to be told that really major decision-making process was going to be taken away from us and everything would be fine.
In one case, the hospital had been trying to ring the woman at home, but she had gone back to work, and had not realised they would only ring her at home. When the midwife eventually rang, she was impressed how well she communicated the results.
- Age at interview:
- Children' 1 (age 6), Occupation' Mother - full-time mother, Father - management consultant, Marital status' Married.
They said that the results would take five to seven days. I was working at the time, so I was going into work as usual. And what I hadn't realised was that they didn't want to talk to me at work - that they wanted to talk to me while I was at home - so on the last day, which was a Friday, I told my boss that I was expecting this phone call from the specialists and that I wouldn't be in work.
And in fact they did call that morning with the results. And they said that they'd been trying to call me earlier in the week at home but I'd been at work and they hadn't left a message on the answer machine or anything.
Do you wish in retrospect, I mean had anybody...?
I think - it was a bizarre situation. I was sort of floating through the experience, almost numb and not really thinking about the sort of minor details and the practicalities of things. And I guess it would have been helpful if they hadn't assumed that I was at home. It might have been helpful if somebody had said, 'Are you likely to be at work?'
Did they have your work number?
I don't think they did, in fact. I think they probably just had my home number.
And in between that point and getting the results, did you have further discussions together, or was it all like on hold till you got those results?
Yeah. It was on hold. We talked about the, what we'd been through and we talked about how we felt, but we didn't really go into what we would do with the results.
And then the results came which was another Friday
It was. There was a midwife from the hospital who rang me, and said, 'Unfortunately the results of the CVS show that your baby has Down's syndrome.' And yeah, that was hard because I was by myself, and I was trying to deal with what she had told me, and I was also trying to think about what information I needed from her to help me make the decision.
She was one of the most helpful professionals that I came across throughout the experience. And she did help me to ask the questions. She did ask me what my experience of Down's syndrome was - so had I met any children? She asked me if I had any concerns, and did I need any other information? So she did sort of prompt me. She didn't get off the phone as quickly as possible. Yes, but I was completely devastated.
A couple who eventually discovered their baby had Turner's syndrome were initially reassured that their CVS results were negative for various conditions. They described what a blow it was to get another telephone call one evening to say their baby had Turner's syndrome, having thought they were clear, but also remarked that there is no perfect way of giving people bad news. They were glad to be told the name of the condition before they saw the consultant the next day, so they could do some research.
- Age at interview:
- Children' First pregnancy ended at 17 weeks, Occupation' Mother - opera singer, Father (age 42 at interview)- chartered surveyor, Marital status' Married.
Mother' So we went for the CVS, and they called us a week later to say, 'It's not trisomy 13, 18 or 21. And do you want to know the sex?' And I said, 'Yes'. And they said, 'It's a girl, congratulations'. And then she said, 'You won't get a letter to your GP for another two weeks because we have to grow the karyotypes and check for some really rare disorders.'
And I said, 'Oh, like what?' And she said, 'Oh, I don't know, they're so rare, there are so many.' And she really didn't give it, she should have said, 'Look, you're not out of the woods yet. Because we told everyone then. We thought everything was fine, and we rejoiced.
How did you find out about the Turner's? Did you get another phone call or...?
Mother' Yeah, it was another phone call, and because we'd had the positive phone call, I was cooking dinner at seven at night and, you know, 'Hello.' 'Oh, this is the midwife calling from the hospital'. And I just, my stomach dropped and I knew, because why are they calling me? They're not supposed to be calling me. And then she told me. And you know that feeling you get in your stomach? It's just horrible.
Father' But I don't think there's any good way of telling somebody that sort of information, because if you say, 'Oh, we need to make an emer-, you know, an emergency appointment with you to come in and tell you something' then you're left, you know, dangling then as well.
Mother' I'm glad they told us what it was so that we did have the evening to start to do our own research before we had to speak to the consultant.
Getting a diagnosis is a particular shock when it is unexpected. One woman had amniocentesis as a first-line test instead of screening, and was puzzled to see the midwife arriving at her house rather than phoning as arranged. In this case, the appointment to see a consultant to discuss the results (Down's syndrome) was the same afternoon, which felt very rushed.
- Age at interview:
- Children' First pregnancy ended at 17 weeks. 1 child aged 11 months, Occupation' Mother - Job Centre Admin Officer, Father - Job Centre Executive Officer, Marital status' Married.
It was the Tuesday I had it done and on the Friday they give you the result. It was arranged for them to phone me from the hospital, or the midwife, or one of them was going to ring me and let me know the result.
But that wasn't what happened?
No. I mean, the last time I saw the midwife, she said, 'Well, you won't see me unless there's a problem'. So I was in a way like hoping, 'Well, I hope I don't see her coming out, you know, arriving outside the house.' But I rested. I did what they said, you know. I just rested for the three days.
I had a bit of pain afterwards, but I was okay, and she did come round the next day just to check me over and things, and listen to the heartbeat. And it was the Friday morning, about ten past nine, and I saw her pulling up outside and coming up the path. But I still thought, 'Oh, she's had the result early and she's just coming to tell me personally', you know.
And I opened the door and she just blurted in the door. She didn't say, 'Can we go in?' I think she was probably, it was not a very nice thing to have to do anyway. But she walked in and she just said, 'There's a problem'. We didn't sit down, or go in another room. I was in the porch of my house in my dressing gown and she just said, 'I'm sorry there's a problem. They've found Down's, the baby's got Down's syndrome', and I was completely, you know, shaking and just absolutely stunned, because I just couldn't believe it was happening to me.
Did she then sort of sit you down?
Well, we went through into the other room. I'm sure - I don't even think we sat down, you know. We were, I was just so shocked. I was stood by the sink. I think I was just holding on. And she more or less - I mean, it all happened so quick - but she more or less assumed that I would go ahead and terminate, even though I hadn't really discussed it with her that much before.
And she just more or less said, 'Well, this is what will happen. You'll go to the hospital and they'll give you a tablet' and, you know - and it was that day that they were saying, you know, 'Go today'. And I phoned my husband and he came straight home from work, and we had a discussion about it there.
I mean he did, he says now that we did sort of discuss it with the midwife a bit more about, you know, 'Well, it's up to you what you want to do, when you want to do it, or if you do.' But I, because I was in such a state, I can't really remember all that was said, really, then, to be honest, no.
This may have been because the results came on a Friday, so staff thought it would be better than waiting over a weekend. Several people reported getting their results on a Friday. Some found it helpful to have a weekend to mull it over, but others wanted to see someone as soon as possible after getting the results.
Most people who had been referred for a specialist scan were already prepared for a definite diagnosis. One woman described how a fetal cardiologist saw her quickly after her 20-week scan and explained her baby's condition very well.
- Age at interview:
- Children' 2 (aged 8 and 1), Occupation' Mother - Business Analyst, Father - Accountant, Marital status' Married.
Well, we had the scan and you could see on the screen, because she had the screen so we could see as well. Because I know some scanning ladies don't let you see until they've had a look themselves. But the screen was facing us so we could see, and I kept seeing that usually they go all round and look everywhere on the baby and then she kept going back to the heart.
And although you could see the heart beating, so we knew, I knew the baby was alive, which again before I'd seen a baby that wasn't alive, you know, inside me being scanned, so this time I thought yes, the baby's alive, but she kept going back to the heart. So immediately you do start to think, 'What's going on? What's happening? You know, why does she keep looking?'
And after, I don't know, a few minutes, but it seemed that she'd kept, you know, we'd detected that there was some cause for concern, she said, 'I'm,' you know, explained I think very briefly that she'd seen a problem with the heart and that she wanted us to see somebody else who could scan, who knew more than she did really.
So we were extremely lucky actually, having read about other people's experiences, that we managed to get to see somebody the same day. I think I had an appointment straight afterwards, some sort of antenatal appointment, anyway. So we went down and had the antenatal appointment as planned and he'd been told and he said, 'Yes, don't worry, we're going to get you in with a fetal cardiologist,' or somebody, who happened to be at the hospital that day, so we were, you know, again extremely lucky not to have to wait, really.
And within half an hour we were in the scanning room where they had a, I don't know, a better scanner, or a detailed one or something. And they explained very well what they were going to do, and you know, scanned straight away and found out what the problem was, and were able to able to explain it to us, which was, you know, saved a lot of anxiety if we'd had to wait, you know, up to a week, which I think some people do.
And what did they tell you at the cardiac scan? What were they able to see?
Well, they said it's something called a hypoplastic left heart, which I'd never heard of before. There was a, I think there was a heart chap and there was a sort of, a fetal medicine consultant as well. And I think they were both there, and they explained that they would have to scan the baby all over, all again, not just the heart.
So they said it, you know, 'It will take fifteen minutes and we will have to look at everything in detail again, to get a picture in total of what we think the situation is.' And then he was very good, he sat down and drew diagrams for us, and explained what wasn't formed and what was formed and what was wrong.
And they also, I think they detected something in the head which I think can be an indication of Down's or something, and I think Down's babies have more, are more likely to have heart defects, so they were explaining about that possibility as well.
So, you know, they were very good, in that we had instant information and answering all our quest-, you know, any questions we had and whatever, which obviously we were pretty stunned, so you don't tend to think of all the questions at the time.
And then they made an appointment for us to come back the next day, so we'd had a chance to go home, think about it, take in the information and then go back the next day to sort of talk again. Because obviously you think of lots of things
Not all conditions can be identified with certainty, however, so some people may have several scans, sometimes over several months, to try confirm the diagnosis. This can be tiring and stressful.
One woman was given a cardiac scan because she had diabetes, which is an extra risk factor for heart conditions in the baby. Only the previous week she had had a reassuring 20-week scan, so she was not expecting to discover the baby did in fact have a heart condition.
- Age at interview:
- Children' 1 (age 4), Occupation' Mother - Office manager, Father - printer, Marital status' Married.
But then at the twenty-one week fetal heart scan they told us that our son had a congenital heart defect. And that was pretty awful because they - well, they, the lady, there was a young girl scanning me and half-way through, she didn't say anything, she just said, 'Oh look, I'll have to get somebody else to come in and have a look.' And that's when one of the cardiologists came in and sat down, and said, 'Oh, we've got to, I've got to take a more detailed look.'
And he said to us then that our son had, they'd found a defect in his heart, a couple of defects, and I just felt as if my world had come to an end. We both did. We couldn't believe that this had happened. We'd got this far, and I remember saying to my husband, 'My God, I only heard his heart beating two weeks ago for the first time, and it sounded so normal.'
And they went out and left us in this room, and then they came back about ten minutes later and they took us in to see a counsellor and said, they sort of explained exactly what they thought the problem was, and gave us the option of a termination, told us what the outcome was likely to be. And, God, it was just awful, it was absolutely awful.
I couldn't stop crying, and I felt so stupid for crying, because I must have been asking such stupid questions, such silly trivial questions. And what they did at the time, they just gave us some leaflets for support groups and that sort of thing, and said to go away and come back in a few days time, once we'd thought about it, and with any questions that we had.
Occasionally, problems were picked up much later in pregnancy. For example, one mother described a scan at 8 months to check if her baby was breech which found that part of the baby's brain had not developed (agenesis of the corpus callosum). The mother was told there was little hope, but the baby has since made better progress than predicted.
- Age at interview:
- Children' 2 (ages 10 years; 15 months), Occupation' Full-time carer, Marital status' Single.
Because I've been for many scans before, every time I'd been I always ask for a picture. She was very silent as she was doing it, and I asked for a picture and she said I couldn't have one. And she carried on and she was, she still didn't say anything to me, and then she said, 'I'll just go and get the consultant'.
And we waited for about ten minutes, and the consultant came down and she came with him, and then she discussed something with him, which she wasn't talking to me, she was just telling him. And then he started to scan me, and he scanned me for a good twenty minutes. And as he was scanning me he said, 'She's picked something up, that she's asked me to investigate a bit further'.
But he didn't tell me what they'd picked up until he'd finished scanning me, and that's when he told me the whole thing really. And I said, 'Well, what would your opinion be?', and he said his opinion would be a termination. His exact words, 'The prognosis I give for this child is appalling', because he said she wouldn't survive. But he proved wrong, she proved him wrong.
And would you have liked them to talk through things as they were doing it?
I would, yeah. I would like them to explain what they're doing, what they're looking at. They use a lot of the time technical jargon that I just, you just don't understand. And they were just talking to one another as if I was invisible, and as if they were just using my belly just to look at a picture.
And as I say that twenty minutes, because he said he was, he'd been told to look at something - he didn't tell me what or where he was looking - and it's twenty minutes that I had to endure him looking at my belly, scanning me, then for him to tell me the prognosis.
Last reviewed June 2014.
Last updated August 2010.