Fluid around heart at 20 week scan ..

[Keepontrudging]

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

[nocoolnamesleft]

What is it that would help you (a little bit) tonight. Is it information about the other possibilities? Is it how likely mosaic downs might be? Is it an idea of what happens next? Is it a big squishy hug whilst you try to stay sane tonight? If people know which you need, maybe one of us could help.

And big virtual hug.

[Purplepoodle]

Firstly huge hugs. Perhaps talk to your consultant about having an amniocentesis since the cvs was inconclusive if you want a definitive answer before the baby is born.

[Purplepoodle]

They won't be able to I tell you downs from the heart scan, just if there are any structural issues

[OlderMummy1]

Have you considered having the Harmony test? It's a simple blood test from you. They then extract the babies DNA and test for all chromosomal problems. No risk of miscarriage like amnio. It's quite expensive but maybe worth it for you. We had it at 8 weeks and it put our mind at rest for the rest of the pregnancy after previous scares x

[juniper44]

I can't help with any of the medical issues, but I can offer virtual hugs

[fluffyraggies]

So sorry to hear you are having this stress OP

Have you tried posting on the ''Antenatal tests/choices'' board here? If it is still as active as it was when i needed support a couple of years ago it is a marvelous source of info and support.

Wishing you and your DP strength and the best of outcomes

[Purplepoodle]

Having read about harmony it doesn't seem to give an absolute about mosaicism or the percentage of mosaicism if the child is affected. A genetic counsellor might be able to talk you through the options more thoroughly

[mosaictrisomy]

Have NC for this thread ((hugs))

I know exactly how you are feeling

I have direct personal experience of a mosaic trisomy (not downs)
a very very rare one less than 1 in a million affecting that specific chromosome - we found out from the amnio cultures, about 2 weeks-ish after we had been given the all clear for the 3 main trisomies and thought we were in the clear. there was not a specialist in the top London hospitals who had seen this condition.

by the time we had waited a few more weeks for further tests/scans etc, baby was showing signs of growth retardation and reduced movements and we made the heartbreaking decision to terminate. That was the right decision for us (and our 2 children) at that time but not the decision everyone would take.
a friend of mine knew she was carrying a downs baby and decided to carry on with the pg - he sadly died in utero at 39 weeks - that was also the right decision for her.
have known lots of people who have gone on to have downs babies and have no regrets about their decisions, their children are delightful.

there is nothing you can do or could have done to change things. take one day at a time and look after yourself. whatever happens you will cope with it.

[londonrach]

Sending you hugs but have nothing to add. Try and get some sleep tonight x

[ladybirdandsnails]

Hugs. We had a huge scare but all turned out fine. A friend had no indication of any issues then baby had to have major heart surgery at a day and then week old. Stay positive - you have time and the experts to make informed decisions and further tests etc x

[ColdTeaAgain]

Hi OP, sorry to hear you are having a worrying time.

Without seeing your scan it is very hard to comment on what pericardial effusion (fluid around heart) could mean for your baby. Mild to moderate can often turn out to be of no consequence at all whereas severe could indicate a heart defect which may or may not be associate with a chromosomal abnormality such as Down's syndrome. Obviously you have been told some possible causes already but try and keep as open a mind as possible, easier said than done though

The best people to contact for advice and support is Antenatal Results and Choices

[nocoolnamesleft]

Practically speaking, they'll probably want to organise a more detailed scan, often done at a fetal medicine unit. FMUs tend to be set up not just with obstetricians with particular expertise, but also input available if needed from neonatologists, paediatric cardiologists etc. Which hopefully means being able to answer the questions you'll have much better.

Hope you manage to get some sleep.

[LuluJakey1]

My friend was told this at her 20 week scan- fluid around the heart. There were no heart defects apparent. She was told to rest, offered an amniocentesis which she had. Nothing showed up. Later scans showed the problem going away.
10 month old healthy baby girl now. Try not to think the worst.

[FloraPost]

Mosaic Downs wouldn't necessarily show up on a CVS - it would depend entirely on whether the sample picked up any affected cells. Depending on how far down the cell division process the mutation occurred, there might be any percentage of cells in the body affected. It sometimes isn't diagnosed until months after birth.

People with mosaic downs are generally less severely affected than either those whose cells mutated at first division or those who were made from affected gametes (in both these instances 100% of cells in the body carry the trisomy).

While heart problems are much more common among people with Downs, the majority do not have them so it isn't a sure indicator by any means.

I really hope your baby is healthy.

[x2boys]

Hi op I have a child with a rare chromosome disorder I chose not to have any tests ie nuchal fold scan etc he was born very healthy but he does have ASD and development delays its not easy but hes a wonderful lovely child some children do have health issues but not all if you want to pm me with any questions feel free.

[Keepontrudging]

Thanks everyone. Really appreciate the feedback. I guess I am hopelessly searching for answers that only the medics will give me (if they can) I have a call today. I have posted in ante natal and had no response. The reason I think mosaic downs is because I had a high risk result for downs (1 in 27) and the 3 main trisomies came back negative- but didn't get the latter part of test back as cells didn't culture (this would have told is about mosaic downs)

As I say, maybe it's not connected - but as it is uncommon to have a high risk screening at my age 26- and also uncommon to have. A baby with fluid around the heart- I feel it would basically be extremely unlucky and rare to have both in one pregnancy! Though I know it's possible. So my logical reasoning is both must be connected?

[deakymom]

a friend of mine was advised to terminate she was told it was downs severe difficulties most likely etc she decided not to and was extremely worried for the rest of the pregnancy the baby was fine no downs no abnormalities nothing remember tests do not tell you everything (and can be wrong) x hope you slept xx

[LuluJakey1]

1 in 27 means there are 26 chances in 27 that the baby does not have Downs. Try to think of it that way?

[Keepontrudging]

Yes lulu - but now another factor has come in too- the fluid around the heart is considered a medium marker of downs... So I imagine my risk would be higher now anyway. If it is downs I will cope - I would have always kept my baby regardless. I just need to know. It's the not knowing ...

[x2boys]

You may have more response if you post in special needs .

[FloraPost]

Good luck today, OP.

[Keepontrudging]

Midwife called to say consultant wants to scan me again next thursd, she isn't too worried apparently as it's a small amount...I still won't rest given the previous issues and now this. Once I have my scan and more answers next week I will be happier :)

[KateMoose]

There is a 3.7% chance that your baby has a chromosomal abnormality. It annoys me when hospitals say one in 27 or such and high risk. I know people who have aborted at a one in 300 risk when that is 0.33%.

You have a 96.4% chance that your baby does not have a chromosomal abnormality. The fluid round the heart, that must be very scary, but the chances are that the fluid is unrelated and yes, may be an issue, but an issue on a neuro-typical baby. Good luck OP.

[Keepontrudging]

Thanks Kate moose. But because it's a marker for downs (fluid around heart) would it not now bring up my risk from 4% (or thereabouts) I assume it would, surely ...? I hope not though. This would be good to know and the consultant 'doesn't do phone consultations' so I haven't heard back with a more detailed explanation. Arghh.

[minipie]

How stressful for you

The only thing I can add is that, sa far as I understand, not even the second part of the CVS analysis (the "full karyotype") would show up mosaic Downs.

Mosaic downs is when some of the baby's cells have downs and some don't. The reason CVS may not pick it up is because the placenta (which is where the sample comes from) may not have any of the downs cells. Or because the placenta is also mosaic and the sample happened to miss all the downs cells. If they missed the downs cells then even the later stage of analysis (full karyotype) wouldn't pick it up as the downs cells just aren't there to be studied.

The reason I know about this is because I had a high risk result and a CVS (including full karyotype). I was given the all clear but then when DD was born, the doctors thought she might well have Downs based on her looks. They did further tests on her blood and while waiting I did some research on how it could be possible to have a clear CVS but still have a baby with downs. One answer was mosaicism. Another was negligence...

I believe that an amnio is much more likely to pick up mosaic downs than a CVS. Would you be willing to go through that? I appreciate it's another horrendous and invasive test after you've already had the CVS.