Fluid around heart at 20 week scan...

[Keepontrudging]

Hi everyone,
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 ...

hello keepontrudging
I am sorry you are having such a bad time as myself I am going through something similar or maybe worst. It is unfortunate they could not do the whole analysis. I believe they should have offered you an amniocentesis to be sure. For what I understand yes mosaicism can be a problem, meaning baby can still have down syndrome but just not be present in all of the cells. However, the fluid can be nothing and resolve itself as it could also be a sign that something different from Down is present. I guess the only real way to find out is to have an ammio. Not sure if they will perform it at this stage but I guess they should be able to. In my case I had a complete CVS analysis and it was clear but since NT was 5mm they sent samples for further chromosomal analysis. The test are called microarray and Noonan syndrome. I also had early anatomy and echo scans which were normal but the Noonan test has now found a mutation in a gene which could be a reason to believe baby has CFC syndrome, one of the most rare in the world. I hope you can have further testing soon and hopefully the issue will resolve by itself. Try not to convince yourself it is Down without more proof. I hope your NT scan was not too high which can be a good thing not to have this kind of mark to start with. I know how hard is to stay positive, I am having problems myself knowing something genetic was already found and the only way to possible be ok is if my husband or myself have the same mutation... we have to wait another two weeks to know that... My IPS test showed a risk assessment of 4 in 5 (80%) for Down Syndrome but baby has no Down so as I said it can be something totally different or nothing. Wishing you the best.

Thanks olive - so sorry to hear you are going through this too. It's awful. In a mad way I am holding I to downs as I am terrified it is something I know nothing about - obviously though I am hoping it is nothing. Doubtful , mind you. I am finding it hard to stay positive now- initially I did when all this began (with high risk screening) and now this, I just feel something is wrong with my poor boy and the not knowing is absolute hell. I have a call today from consultant so we shall see where we go from here...good luck to you. I hope all works out ok and thanks for your help x