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Antenatal Screening

Learning after birth that the baby has a condition

Some parents we spoke to had gone through pregnancy with normal or low chance screening results, but then discovered after birth that the baby had a particular condition or disability. 

One mother was told after her nuchal scan that her chance of having a baby with Down's syndrome was 1 in 1700 (see also 'Understanding antenatal screening test results'). 

She described how she and her husband suspected after the birth that the baby did have Down's syndrome, but it took two weeks to get definite confirmation.

 

Their daughter's Down's syndrome was not formally diagnosed for two weeks after birth, but the...

Their daughter's Down's syndrome was not formally diagnosed for two weeks after birth, but the...

Age at interview: 37
Sex: Female
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And as soon as she was born, you know how you just think, 'Mm, I'm not sure that everything's all right.' Because to start off with, she was a week late and she was just over six and a half pounds. Now bearing in mind we're both big. My son, who was my first, was on time and was nearly nine pounds. 

That's, little alarm bells started to ring then. And she, she was as skinny as a rake. She - oh, she looked awful. She was like a little Sainsbury's ready, oven-ready chicken. She looked awful. And she, her skin was all peeling, so she looked like a, like post-mature, but in actual fact everything else about her was sort of very premmy, like she was premature, which I knew she wasn't. 

So just a couple of things didn't add up. And the two midwives who were here I think obviously twigged straight away, but of course they're not allowed to say anything to you. And because I wasn't in hospital they couldn't then go and get the consultant to have a look and have a discussion with me. 

So anyway, they were sort of faffing round saying, 'Oh, make sure you keep her warm, and oh...' And then they sort of went away and left us on our own. And then I said to my husband, I was looking at her and I said, "Hmm. Don't you think she looks a bit like she's got Down's syndrome?" and he said to me, "Oh, what a horrible thing to say. They all look funny when they're born." And we didn't really think anything more of it. 

And then she had - because she was at home, again, she didn't have her checks until, she was born on the Friday and that was the Sunday. And of course the woman came to do her checks and she failed practically everything, because she didn't have the grasp ref-, she didn't have a lot of the reflexes. She had clicky hips, you know, it was - oh, it was, she was just a complete failure. And so she said, 'Oh, I'm going to get your GP to come round and have a chat to you.' 

And then the GP came round on Wednesday, and she'd been born on the Friday, and had a look at her. And she said, my GP said to me, 'How does she seem to you?' And I said, "Well, you know, I think she's got Down's syndrome," and she said "Oh, so do we." So, 'Right, okay. Perhaps somebody could have mentioned it before' - that's what you thought. She said, 'Oh well, that's what we think', but she said, 'I'm looking at her. I don't know anything about it. You need to go to hospital.' 

So we went to hospital that day to see a paediatrician. And the paediatrician said, "Oh yes, she's" - you know there's a list, isn't there, of all these physical things that they're supposed to have. And she was saying, "Oh, she's got this", and my husband said, "Yeah, but I've got that." And, you know, 'She's got this physical attribute, and that, and the other.' 

So in the end they took some bloods, and we got the results back, I think, a week after that, so two weeks after she was born we got the diag-, and they phoned me up at home and told me the diagnosis over the phone.

The delay in diagnosis turned out to be a positive advantage, because it gave them time to get to know the baby as a person and adjust gradually to what they thought might be going on. 

Having a home delivery also meant they did not immediately get drawn into medical diagnosis and intervention and could work on establishing breastfeeding. They were relieved to discover the baby had none of the heart defects which often accompany Down's syndrome.

 

The delay in diagnosis and having a home delivery meant they got to know their daughter as a...

The delay in diagnosis and having a home delivery meant they got to know their daughter as a...

Age at interview: 37
Sex: Female
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She was born on the Friday, and my GP came out on the Wednesday, and they'd obviously been talking about her, because of what she said. They'd obviously said, 'Oh' - I suppose they waited for her to have her checks on Sunday. But I'm not sorry, absolutely not sorry, about the way they handled it. A lot of people have said to me, 'Oh, how awful, you know. You were kept waiting. They didn't tell you what they thought.' 

But in a way, you know, I feel we've been really lucky. One, because I had her at home, and I think the experience of having a disabled child at home is a lot different from having one in hospital, and - so I understand from people who have had children with Down's syndrome in hospital. 

And the other thing is, yes, we didn't get a diagnosis for two weeks, but in a way that helped us to get to know her, and see her as a person in her own right, and then see her as a person or a child, but with Down's syndrome, rather than straight away having a child with Down's syndrome, and that's what she was. 

Whereas, you know, by the time we had the diagnosis she was our baby, she was part of our family and it was just - do you know what I mean? It was, we had a chance to get to know her. And in the same way that people would say, 'Oh, I don't want a child with this. I don't think' - in the way that we did - 'I can't cope with a child that's got this or that', we had her, and she did have that. But because we had her and got to know her, then 'She had that - well, you've just got to get on with it.' 

And it didn't seem such a big deal, I think, as if I'd, say, for example, if I'd gone into hospital, which I didn't want to do anyway, so that would have been one trauma. And then we'd have had the thing that's happened to most people who go into hospital. 

They're diagnosed as soon as they're born, because they're - I suppose the consultants on the ward have seen a lot more of it and are a lot more confident to say, 'Yeah, we'll do the blood test but your' - what they tend to say is, don't they, 'We'll do the blood test, but your baby's got Down's syndrome. But we'll do it just to make sure, but this is a fact of life.' 

And I think with all the trauma of even a straightforward birth, and then having that loaded straight on you, I don't, I think that would have been, I think I'd have felt very differently about it.

This contrasted with the experience of a mother whose baby was found to have hydrocephalus (fluid on the brain) immediately after birth. The problem had not been visible at the 20-week scan, nor was it detected at a scan at 32 weeks. She had a scan at 38 weeks to check the baby's position and thinking back the mother thought the baby looked strange at that scan.

 

Her baby's hydrocephalus was not detected in pregnancy, but at a scan at 38 weeks she thought the...

Her baby's hydrocephalus was not detected in pregnancy, but at a scan at 38 weeks she thought the...

Age at interview: 32
Sex: Female
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I had a scan at 20 weeks, and then they said that I had a low placenta and the baby has a growth spurt around 32 weeks, so they called me back at 32 weeks to see if the baby had in fact had a growth spurt and took my placenta up. They scanned me, in which it did, and everything was fine.

They didn't detect anything that was wrong at 32 weeks. And then I started to lose like a green discharge. So I went to, I went for shared care, so I had midwifery at a centre as well as going to one of the hospitals. I went down to her, because I actually went into labour on Good Friday, 2 weeks before I was actually due, and the midwife examined me and she said that they thought the baby was breech, because what they could feel was too big for her head, it must be her bum, so they thought the baby was breech.  

My contractions slowed down and they sent me home. And then I, the following day I went to the midwife's, because of this green discharge, and explained I'd been in established labour the night before but they've sent me home. And she ruptured, she put a gel on my membranes to try and hurry the labour along. And she done a scan down there and she said that she wasn't qualified to do or to read scans, but I remember the baby looking like an alien on the screen. 

Looking back, I thought it looked like an alien. And then I went in, I actually went into labour a week after my term date. It was a long labour. I was in labour 23 hours and I was pushing for two. During this time they scanned me again to see if the baby was breech and they said that it wasn't, it was just a large baby.

Immediately after a long and difficult labour it became apparent that something was wrong.

 

She knew something was wrong as soon as she saw the baby after birth. The baby went straight to...

She knew something was wrong as soon as she saw the baby after birth. The baby went straight to...

Age at interview: 32
Sex: Female
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Hours and hours seemed to go past and nothing was happening. I had an epidural, and then I wanted to push, and I was pushing for approximately an hour, hour and half, and they tried to turn the baby internally, in which they couldn't do. And they said as a last resort they'd take me down to theatre, maybe for a caesarean, but preferably for a ventouse delivery. 

And they took me down, and my sister come with me - she was all gowned up - and my partner stayed in the delivery suite. She was delivered by ventouse, and she wasn't put straight on my stomach, and that's when I knew there was something wrong. 

I heard the word hydrocephalus and didn't have a clue what it was. And they put her beside me, and I remember thinking back to the scan and thinking, 'My god, it is an alien'. She had, her head size when she was born was the size of my son's now and she was only 7' lb born, so you had a scrawny little body and an enormous head. 

And she'd poohed while I was carrying her or while I was in labour, and I believe she had done that a couple of weeks earlier and that's what the green mucus was that I was losing, but they never picked up on that. 

So she was, where they'd delivered her by ventouse, she had a very large water blister on the back of her head, and where the cranium hadn't closed her head was very large from the water that was already in her brain. They laid her beside, they put her on a trolley beside me, and that's when I looked at her and then they, she was just taken away. And then it was said that she had hydrocephalus. 

She was cleaned and given back to me. By now obviously I was hysterical, as was my sister. I kept saying, 'What's wrong?' Because I was, where I'd had the epidural obviously I couldn't move, and I was saying to her, 'What's wrong, what's wrong?' And she was saying, 'Nothing, nothing's wrong, everything's going to be fine', and she was crying so I knew that there was something wrong. They give Lily back to me and I went back to the ward - sorry, back to the delivery suite. What happened in the next hour or so, I couldn't tell you.  

I assumed my sister went to phone the rest of the family because it was the middle of the night. I don't recall telling my partner. I don't know whether I did, or whether a nurse did, or my sister, I don't know. Then the baby was taken to be washed by the midwife, and I just remember thinking, 'Why me? Why me?' It was very, very selfish thinking - looking back now I can say this, you know - 'Why do I get a child that's not perfect? What have I ever done?' 

She was, I was then allowed to have her for a little while for cuddles and special time with just me and my partner and the baby, and then she was just taken to SCBU [Special Care Baby Unit]. I remember I laid there, which seemed a lifetime with nobody, apart from obviously my sister and my partner. My partner went home, and my mum come to the hospital with my cousin. And I started to haemorrhage. And I remember they went to see the baby.

The next day the neurologist gave them the results of a brain scan which suggested the baby had severe brain damage. 

Coming to terms with the shock of this unexpected news was very hard, especially seeing other mothers in hospital with normal babies. In fact their daughter's progress has since been much better than predicted.

 

They were told the baby had severe brain damage. It was hard to come to terms with the shock.

They were told the baby had severe brain damage. It was hard to come to terms with the shock.

Age at interview: 32
Sex: Female
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He said 'I've got some very bad news for you. Your daughter's got severe brain damage.' And that's exactly how he told us. He then showed me a picture on the computer of a child with a normal brain and a child, and then Lily's brain, which looked, obviously there was a big difference. Lily had a lot of blood in her brain. And then he went. You know, we was completely dumbstruck, our world had just crashed. 

He didn't stick around to answer any questions. A million entered my head, I didn't know where to start. Then we asked if we could actually see him to answer some of our questions, and he took us into a little room which was, a patient, the parent's time-out room, sort of thing. 

And my first question was, 'Was she going to die?' and he said, 'No.' And then I thought, 'I hope she does, because then it wouldn't, I wouldn't have to worry', which is awful. 

And I'd never, I couldn't see any light at the end of the tunnel, or anything ever getting better. And the description he gave us was that this child would never do anything, that she was completely brain damaged, she'd have learning difficulties, wouldn't be able to walk and talk and speak.

He said, 'Hydrocephalus', and I asked him what it was, and he explained that it was water on the brain, something wrong with the ventricles. And then he had said to me, I wanted to know why, the cause of it, really, and he couldn't answer that question without further tests, or I may never know the answer why. 

And then he left and we had time with Lily. And he said if there's anything we need or, he'd like, he was on call, we could call him. So and then we spent the next week in the hospital, which was just horrendous, absolutely horrendous. 

They put me on a ward, an enormous ward. It must have had at least 20 mums with their new babies, which I found really distressing, because, you know, they're all happy, they've had just had a child and, you know, I've got this child with something wrong with it. And I asked a very good friend of mine, who went to speak to one of the consultants, and basically told him that I had to be moved, there's no way I could stay on there. And they moved me to a littler ward.

Another little girl had several problems after the birth before a congenital heart condition was finally diagnosed. Even in hospital straight after the birth her parents felt uneasy but were reassured there was nothing seriously wrong. Eventually they took her to hospital and it was discovered the level of oxygen in her blood was low but this was put down to pneumonia.

 

The mother thought something was wrong with her baby after birth, but everyone reassured her till...

The mother thought something was wrong with her baby after birth, but everyone reassured her till...

Age at interview: 32
Sex: Female
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Mother' Yeah, we was in, I stayed in for two days. On the second day she was feeding every hour and I thought, you know, 'That's not, that's not right', you know. I had, my middle child was only 5lb 12oz. She fed every two hours because she was so little. But she was bigger, she was 6lb 12oz but she was still feeding every two hours. 

I did mention it to the nurse and she said, 'Well, you're breast-feeding, there's nothing I can do'. And I thought, 'Well, fair enough', you know. It's, but I just got on with it because, you know, I've had two children, you know. And the doctors checked her out when we was discharged and everything was fine. Brought her home. 

Again the midwives come to visit her, everything was fine, she was still a perfect colour and it's only because I had a feeling that there was something wrong. Never in a million years did I think it was as major as what it was. 

Father'  No.

Mother' I just knew something was wrong. She had her 8-week check. She got the all-clear but I kept, I took her to the doctors because of the crying and the feeding, you know, every two hours and it was just, I was so tired, waking up all the time, like, seeing to her and it's, by the time, you know, I took her off my boob to lay her down, she'd wake up and be hungry again. And I was thinking she's either a very spoilt child, or there is something wrong. 

Father'  Something wrong.

Mother' Backwards and forwards to the doctors, colic, cold, flu, in the end they said it was asthma. 

Father'  Yep.

Mother' They said, 'We've done everything we could do. If you're not happy, I suggest you take her to the hospital two days later'.

Father'  Which you did.

Mother' Yeah. On the Thursday, that's it, she was happy, she was smiling and I did, I felt paranoid.

Father'  She'd play, everything. There was nothing wrong. She wasn't even pink - she wasn't even blue. She was pink. She was a normal, active baby, and you used to play with her and muck about. She'd laugh. I mean, there was nothing wrong at all. She was fine.

Mother' I did, I'll be honest, I did feel paranoid, but I took her.

Father'  Yeah, because everyone kept saying, 'Oh, you're, you're overreacting, you're this, you're that.'

Mother' But that's it, they...

Father'  And she said, 'But I know, [partner]- look, something's wrong, I know it is'. 

Mother' Yeah.

Father'  So I said, 'Well, if it's wrong - hospital. Sod it. Sod 'em. Just go, let's just find out. Go'. And we went, that was it, just, we went.

Mother' And we went, yeah. That's it. They did her SATS [saturation levels of oxygen in the blood] s

Although one doctor mentioned the possibility of a heart problem, they did not see the same doctor again and it was not followed up. After several days, her oxygen levels dipped suddenly and they were sent to a specialist hospital. It was terrifying to be caught up in a life-threatening emergency, but also a relief to finally have a diagnosis.

 

It was terrifying to be referred to a specialist hospital as an emergency, but also a relief to...

It was terrifying to be referred to a specialist hospital as an emergency, but also a relief to...

Age at interview: 32
Sex: Female
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Mother' It happens quick, as well, you know. They was in a blue-light ambulance all the way to [specialist hospital], which is scary in itself. You know, I had to quickly pack my stuff, say goodbye to my mum and my other two children. You know, and my mum was just like, 'Ah, what's going on?'

Father'  Plus being told, 'They've got the facilities there'

Mother' Yeah .      

Father'  'to deal with her case'. And then you think, 'This is more serious than, you know, this is really serious, now, because you're talking about facilities, you're talking about going to a specialist place, just for hearts.'

Mother' A specialist hospital, yeah. 

Father'  'This is really, you know, this is really heavy'. And it was just, that was really scary, really scary.

Mother' But we got there. And like I said, in the ambulance was the time when it started to sink in, thinking, 'Oh, you know, what's going on? Is, you know, is she going to die? Is she going to live? Is, do they need to operate?' And it's, until I got there and, like, saw one of the doctors, and then, like I said, it took the whole of my courage and my strength not to cry, not to be all, like, panicky panicky, just to ask the question, 'Is she going to die?' And then when he turned round and said, 'Well, one day'

Father'  'Not yet.'

Mother' 'but not yet', and that's what I needed to hear, like, 'Not yet'. 

Father'  Yeah, the truth.

Mother' You know, the truth to say, 'She's not going to just like drop down dead on me. They've got time to do something and operate'.

Father'  Because no-one could tell us, no-one could say to us, 'Yeah, this is going to happen, that's going to happen, we can't'. All they could say was, 'Well, we can't really tell, we can't really tell'. And that was the worst part of it, saying

Mother' Not knowing.

Father' You're worried about your, is your new-born baby going to be OK, and people saying, 'Well, we don't really know'. And you don't know, because you're the parents, you've got no...

Mother' Yeah, no control'

Father'  No knowledge or whatever. These people know because this is their job - and then saying, 'We don't know', that was the worst part of it. And then this bloke just turning round and saying, 'Well, not yet, but'. 

Mother' 'One day, but not yet'.

Father'  'One day, but not yet'.

Mother' Which is a bad enough answer.

Father'  It took all that weight off of that one moment.

Mother' But yeah, that first time we was in hospital two weeks. They discharged us, you know. They said they'd do follow-up at clinics, she would need, I don't know, one doctor said five operations; they'd do like a few smaller ones.

Father' In stages.

Mother' And then one major big by-pass surgery, and they sent us home. And I'll be honest, in the - when I was home all I kept thinking was, 'Oh, she'll be all right for the little ones, it's the big one that's, that I'm not looking forward to'.

Father' Yeah, that was what was worrying us - the big one, the big one's coming.

Mother' But then like I said, I was home 13 days and I knew again - gut feeling - that something was wrong. The Home Care team was down teaching me CPR and I said, I said, 'Look, is she breathing OK to you?' and she said, 'Yes, she's fine'. 

Father' But she wasn't - because it was the way her, it was the way her chest was moving, it wasn't right. It wasn't like...

Mother' Yeah, she just...

Father' It wasn't what it looked like if you've got a normal kid breathe, it used to sort of collapse, her whole chest would collapse, then puff up again, collapse. And it was like she was, as if  - you know when you've been running for a long time

Mother' Yeah, just'

Father' And you're like, you're really trying to get your breath, she was like that all the time. But it wasn't bothering her, she wasn't fazed by it.

Mother' No, no, she was fine.

Father' She wasn't worried at all. She was just, it was just the normal way she was. But it worried us keep seeing it, like, 'It's not right though.'

Mother' That's it. But then like I said, I took her to the hospital the Friday. They said, 'It's a cold, you're over-reacting because you know that she's a heart child now'. Lo and behold, took her back up there Saturday, she was admitted, Sunday diagnosed with bronchiolitis and the Monday she was dying. Same doctor, [name], just, you know, it's really weird how it happened.

Father' In a little box, and that was also bad, because we couldn't touch her.

Mother' Yeah, the oxygen box, oxygen tent over her.

Father' So it was right over her, so you couldn't hold her hand. Well, you could hold her hand, you could hold her, she could hold your finger.

Mother' Yeah, yeah.

Father' But you couldn't' I don't know, you couldn't grab her.

Mother' Just, no. It was horrible, horrible, because I did pick her up and she had a spell and her oxygen level dropped so low, you know. It was best...

Father' Straight back in the box
<

Being told your baby has a health condition will always be upsetting, whether it is before the birth or after. These parents had mixed views about whether they would have preferred to find out before birth. 

See also 'How it has affected parents views about screening' for their thoughts about screening and antenatal diagnosis.

You can find more parents talking about their experiences of having a baby with a long term health condition on the following our sites: 'Screening for sickle cell and beta thalassaemia and other haemoglobin variants' and 'Parents of children with congenital heart disease'.

Last reviewed July 2017.

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