Amnio at 35 weeks

[nickname7890]

Hello
Thanks in advance for reading
I had a NT of 3.2mm and tricuspid regurgitation seen at my 12 week scan at the FMC where we also had the harmony test. Harmony came back low risk but because of the NT increased and Tricuspid regurg and maybe I'm 35 when baby is born, they increased my risk of chromosomal abnormalities. My NHS nucahel was 5 days before my 3.2mm reading and showed 1.72mm
After the 3.2mm I went back to NHS and FMC and both measured 2.6mm within around 5 days of the 3.2mm reading
My hospital referred me to the fetal medicine unit (FMU) for repeat cardio scans and other scans to check over baby. We were asked if we wanted amnio but miscarriage risk was higher st that stage so they suggested if I wanted waiting a few weeks, having more tests to see if any soft markers showed up, and then deciding. They said harmony should be reassuring for downs risk. The echo cardio scans (3 in total) never showed any tricuspid regurgitation and I was discharged there. Our babies cerebral fluid was increased on one ventricle to 9mm but it then went down 3 weeks later and 9mm is on the border not beyond it. I also understand in boys it can be increased.

Anyway, I feel this pregnancy has been hijacked by the decision of the amnio hanging over us. I have had shocking medical news delivered before and don't want a delivery shock and want to be as best prepared as possible. I appreciate some people have soft markers and an. Increase beyond 3.2mm, and some people have no soft markers and instead a chromosomal abnormality.

Now NHS tell me they can do amnio but because I am 0.3mm under the threshold they can only test for top 3 abnormalities (trisomy 13, 21,18) which harmony's given is low risk for(although the harmony is not of course diagnostic). We can go private if we want to pay the £700 and test for all other abnormalities but those results take 2 weeks and bearing in mind my due date of 1 December I could run out of time

I need to make decision by today I am told as to whether to test for top 3 with nhs or all and just hope I get results before I go into labour. In terms of what it would tell me I hope peace of mind. If not preparation. I am struggling to get excited for this entire pregnancy and connect with the baby
Does anyone have any experience or tips? Would you go for all chromosomal tests or just top three? We have a family already and it could be life changing for our existing children so I would like to be prepared if this is a genuine risk. Many thanks again

Given the harmony was low risk I'm not sure I would go for the amnio just for the three main trisomies. It is thought to be pretty accurate for downs and if it was one of the others I would think other markers would have been evident on your scans? There is still the risk of premature labour (admittedly slight).

Given how late it is I think I would wait and if need be have genetic tests after birth. If there is anything wrong your babies characteristics might be able to point them towards more targeted screening. Amnios are not a pleasant experience and at this point the result (even if it comes in time) is unlikely to change any outcomes.

I do understand the need to know and can see why you would want to have the reassurance before birth. Dd1 had a severe heart condition (which in the end was terminal) and we ended up having an amnio at 22weeks despite having a clear harmony. She never tested positive for anything (we had postnatal testing as well) but more obscure conditions don't get tested for on std tests.

Good luck either way you decide

Thank you and I am so sorry for your experience and loss.

May I ask , did you realise there was a heart condition before birth? I appreciate it seems rather pointless re testing for these top 3 abnormalities. My child's nursery worker was the 1:10,000 that had downs and she said her world fell apart when he was born due to the shock of it all(now obviously she is fine with it all but the shock was the worst part for her).
I suppose because of the increased NT I thought maybe it would alleviate some concern(I am hopeful there is not a genuine risk of any problems for this baby).

Would you think we should test for the others? NHS is being so tricky -all pregnancy they asked do I want amnio? And noted I had declined at that stage
And now I said yes they will only test for most common 3 but also the 3 we already tested for ...

Yes we did know about the heart condition. Found out at 22weeks (and hence the amnio), our 12 week scan was normal.

I don't know what I would do in your situation. If you are not planning on acting on any results from the amnio I would probably leave it and see what the situation is post birth. Have the NHS said why they won't do the full screen?

I definitely would want to know and be prepared if there was something
I also had PND with my first and would like to be prepared. Also if it was incompatible with life I would like to know

They said they won't do it because the NT is 3.2 not 3.5 mm
I just don't know why they didn't tell us this earlier in the pregnancy instead of asking us every step if we wanted to have it and only when we said yes highlighting that actually they would only test for top 3

Ps how rare are the other abnormalities ?
Do other abnormalities have more likelihood of presenting signs on a scan? Or more likely it would be greater than 3.2 if other abnormalities?

I don't know exact numbers for all other conditions tested for but they are rarer. Digeorge syndrome for example is 1 in 4000.

As you say your nt reading, although slightly elevated, is below the NHS threshold and it was only one of the three so take reassurance for that. Did they give any reason for the regurgitation disappearing as heart conditions by themselves can give elevated nts?

It takes approx 2 weeks for full karotype testing from the amnio so it would be 37 weeks before you got a result. If you are worrying that much it probably is worth £700 but given what you have said the chances of there being anything wrong seems low given what you have said. Do you have a link into a fetal medicine midwife (either NHS or at FMC) that you can chat things though with (all pros/cons). Mine was great with dd1.

Sorry I can't really help, what I know is based on my experiences but didn't want to not reply and hopefully this might bump the thread and others might reply.

Thank you
The only reason they gave was immaturity of the heart and that nhs do not normally test heart so early at 13 weeks but the FMc did and because they had seen the Tricuspid regurgitation I was referrrd for echo

What worries me is I have read the "norm" is 1.6-2.4
And so st best we went down to 2.6 after the 3.2 but in some countries that would warrant an amnio
I wish I had hd the amnio first off
There are so many conditions we could be missing and I can't bear not knowing
But I am 36 weeks on Monday
So I would be near 38 weeks and it's all getting so late.
I wish I could enjoy this I just feel stressed
When people congratulate me or try talk to me about the baby I don't want to engage as I feel a sinking feeling just concern taking over