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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

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Original poster

Fluid around heart at 20 week scan ..

49 replies

Keepontrudging · 20/08/2014 21:58

Hi everyone,

Firstly, apologies - I know this isn't the correct board but I have had no response on others. Posting here for traffic...
We had a high risk result of 1 in 27 and had a CVS. The results came back that all the three main types of trisomy's were clear, sadly there were not enough cells to culture though- so we didn't get the latter part of the results back for the rare type of chromosomal abnormalities.

We were assured that we had fairly positive results and that we should be positive all will be ok. However, at our 20 week scan we have had a good / healthy scan except from the heart; which is showing it has fluid around it.

They are unable to tell us anything yet, we have a phonecall tomorrow from the consultant who I imagine will arrange for us to come in for a more detailed heart scan. They did say it could just be an infection... but they also said that this can indicate downs syndrome.

The mean two types of down syndrome have been pretty much ruled out from the screening , but it is my understanding that there is a rarer type of downs that would have showed up in the second part of the cvs result (which we couldn't get) it is called Mosaic down syndrome.

I am now left feeling pretty convinced it is downs as it just seems too much of a coincidence to not be! maybe I am preparing myself for the worst...

Has anyone had a similar experience? any advice/ experience would be greatly appreciated as we are in limbo right now

OP posts:

Original poster

Keepontrudging · 21/08/2014 22:01

Thanks mini for taking the time to go through things. I was not aware that a cvs can sometimes not show mosaic downs. I was told it would- however this could very well be the fact that midwife was referring to an amnio rather than a cvs- as it was at the very start of our risk results (when I had the chat) I imagine I will have an amnio now- irregardless of the scan next week, as I feel I was definitive answers - or as close as I can get now.

When you talk of negligence, what do you mean exactly?

OP posts:

Original poster

Keepontrudging · 21/08/2014 22:03

What was the outcome for your dd, if you don't mind me asking? Thanks so much for sharing your experience.

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FloraPost · 21/08/2014 22:53

Minipie explained it much better than me.

Sorry you're having to wait OP. My DS has Downs. He's utterly wonderful. If there's anything you want to know, feel free to PM me.

forago · 21/08/2014 23:00

I believe that is right. my friend had mosaic downs and had to have an amnio after a CVS as the result of the CVS were unclear. in her case the baby did not have the extra chromosome but the placenta did. I believe an amnio sample the foetal cells in the fluid rather than the placental cells of the umbilical cord.

ladybirdandsnails · 21/08/2014 23:11

Lordy I thought the cvs full testing did everything. Glad I didn't know this when I had mine. I would have been a wreck

ChatEnOeuf · 21/08/2014 23:20

If the results won't affect your decision, would you be able to wait until 34 weeks for an amnio? Allows maximal cell sampling but if it triggers preterm labour at least you're at a gestation where it wouldn't be a disaster. What a difficult situation to be in.

JustDontWantToSay · 21/08/2014 23:32

I had a pg that went completely smoothly but I was depressed, paranoid and anxious throughout. Scans were clear but I knew something was wrong. Nobody listened. DD2 was born with a chromosomal abnormality. I'd sensed it. Sometimes you think you know but you don't.....

Original poster

Keepontrudging · 22/08/2014 08:40

Thanks everyone. I could wait until 34 weeks, but it's the not knowing. The pregnancy has been so full of fear and uncertainty and I really just wish to be in a position of some control. I believe it I inevitable now I shall have an amnio - to check for everything. I know it carries a risk- but the risk is minute and my fear surely can't be good anyway. We will def keep our boy , but I just have to know to prepare myself. We are a young ish couple, with a wee one already- dd is only 16 months. For me, to know is to prepare.

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Original poster

Keepontrudging · 22/08/2014 08:42

Just - dp has said all along he is convinced we will have a boy with downs , this was before we even had the screening! (Though he didn't say to me) I don't know what I think. You hear so many times the baby is fine , despite being diagnosed as all sorts in the womb. I don't want to label my boy as anything- until I know.

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Original poster

Keepontrudging · 22/08/2014 08:44

Oh- for what it is worth, I know Down's syndrome is difficult - but I am much more concerned about other possibilities to be honest.

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Marcipex · 22/08/2014 08:54

Are good news stories any help?

My DN is absolutely fine, no issues whatsoever with her.
However, Sil and BIL were told after repeated tests that she was not viable and they were very strongly urged to terminate the pregnancy.
They refused to terminate as this was the only pregnancy they had had after years of trying.
Medics pushed hard to change their minds, saying there was no way the baby was viable. Major defects including lack of proper brain formation.

They are so glad they insisted on going ahead no matter what. DN is ten now and 100% okay.

I know it's easy to say, but try not to imagine the worst.

minipie · 22/08/2014 10:43

Hiya, when I said negligence, I meant the possibility that we'd been given the wrong result after the cvs - so we'd been given a clear result when it should have said downs. DD has no issues - it turned out the reason she looked like she had downs at birth was simply due to the way she'd been badly squashed during birth.

I wish you the best of luck.

KateMoose · 22/08/2014 11:38

Hi OP- I don't think the %risk changes when a soft marker is identified and I remember from my pregnancy that you need multiple soft markers to increase the risk, not one. DD had a soft marker which was a spot on her brain that was not picked up at an NHS scan but at a private one that we only had done because DH couldn't make the NHS one. The private clinic was really thorough and recommended a further scan at 36 weeks which I had done with the NHS which showed no issues other than long femurs (gets that from me) and they vastly overestimated DD's weight.

The soft marker proved to be nothing.

On your 12-13 week scan results does it say nasal bone present? Thats often the clearest sign that downs is not present.

DeWee · 22/08/2014 13:39

My understanding of Mosaic Downs is it generally is a more mild form of Downs. I don't expect that brings you much comfort, but I thought I'd mention it.

DD2 was diagnosed with congenital amputation defect of left arm below elbow at her 20 week scan. It can be a marker for more serious conditions. Unfortunately some people are told that it is likely they have a more serious condition, and put under pressure to terminate.
In actual fact it is most common to happen on its own with no other issues at all-less than 1% have other issues, and many of those are not life limiting.
Are you able to be in contact with some "experts"-not the standard hospital midwifes who can give you actual detail on how likely this soft marker is to translate into actual issues?
Googling, do be careful of either blogs, or American "I am a doctor and I can cure you" sites. Blogs-no one ever blogs "I had a cancer scare and all was fine" you get the worst case. Also you get their experience-and as I said for dd2's condition many people are told it is likely due to the more serious cases often getting more publicity. So they can say in true faith "it is very likely" because that is what they were told-but it isn't actually true.

If you are given statistics, then translate them in your head. For example 1 in 27 has Downs, means if you have 27 babies, 26 of them won't-you'd do the lottery happily under that sort of statistics! If you're given a percentage: 4% do= 96 out of 100 don't etc.

And finally (((hugs))) the waiting (for me) was far worse than the reality. Even though we had a fairly defintie diagnosis from the day after the 20 week scan. Once she was out, she was our baby and absolutely gorgeous, and it didn't matter. Inside me I couldn't get on with anything and it hung over me the whole time.

Original poster

Keepontrudging · 22/08/2014 21:09

Kate-
Well that is very reassuring to know that this one marker would not be a massive impact on our risk. It is considered a 'medium marker' , not soft marker - but all the same, given what you say- it is unlikely this will make much difference. I shall ask the consultant when I see themthough, just to be sure.

Dewee- I have read it is a less limiting type of downs. Glad to hear all is ok with your daughter. I definitely think the worrying and not knowing is the worst too. When our boy is here we will be too in love to be so worried and scared :)

I must add, I do think I am trying to come to some conclusion purely as a coping mechanism. I am well aware I could be jumping ahead of myself- and all could be normal. I think I am doing the whole; expecting the worst, hoping for the best kind of thing. Thanks everyone for you experiences thus far :)

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Original poster

Keepontrudging · 22/08/2014 21:15

mini- thanks for your explanation- I thought this is what you meant! Yes, you hear a lot about cvs / amnios being incorrect. I suppose these things can never be 100%. I keep wondering if the second part of the test was not possible to do because of some problem? They told me the cells hadn't cultured - as maybe too many were taken for the first part of the test... but now I think , maybe this is another indication of something not being right?gah! sorry I am actually doing my own head in now, goodness me I do need to stop all this going around in my head.. it does help to speak to others with similar experiences / info on the matter- I find it comforting. I find it much harder just to let go - and wait.

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lolalotta · 22/08/2014 21:20

Hugs OP, the wait for information must be incredibly difficult.

FloraPost · 22/08/2014 22:46

KateMoose, that's not correct although was thought to be in the past. My DS's nasal bone was clearly present at 12 weeks. Not trying to spook anyone; just saying.

Original poster

Keepontrudging · 22/08/2014 22:52

Flora- I have read more than half of babies born with ds are not diagnosed until after born. So it seems the 'markers' are not really all that reliable on their own- and obviously not 100% either ...

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FloraPost · 23/08/2014 07:58

That's right; essentially lots of little quirks which could be something but are usually nothing. One of DS's little friends had no markers at all and odds of 1:9000.

Easier said than done, but try not to worry about the heart business. Even serious medical conditions aren't always difficult to fix.

Original poster

Keepontrudging · 23/08/2014 18:44

flora- is 1:9000 odds high then?! sure doesn't seem it?

I am more worried the heart issue is an implication of a more serious disorder ... but all I can do is wait, wait and wait. I have used up all the positivity at the start of this pregnancy- it is starting to wane ... I just feel something must be wrong ... I hope I am wrong, I really do,

OP posts:

KateMoose · 23/08/2014 20:47

Ah right Flora, well my experience is 4 years out of date.

FloraPost · 26/08/2014 13:48

1:9000 is very low - only one mother in 9000 with that particular blood result and scan profile would have a baby with Downs. It so happens DS's little friend was that one in 9000.

The waiting is so hard, I hope you've been able to distract yourself a bit. Modern medicine is a wonderful thing. It doesn't have all the solutions, but it has a hell of a lot of them. Good luck on Thursday x.

MillyMoo19 · 09/02/2021 19:54

Does anyone know the outcome of this thread? Was the baby OK?

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