Amnio

[ladyp87]

Looking for any advice. I'm booked in for an amnio next week. Had a 1 in seven risk of ds following screening, with an NT of 5.3. Had an NIPT which placed me at really low risk for any of the three screening conditions. Consultant thinks I should still have the amnio based on the NT reading to obtain the full array. Anyone know what else could be found that could have a big impact on baby or what the procedure is like? Thankyou

So sorry you’re going through this. Sending you love and strength. I had amniocentesis, and out of all the screening and diagnostic tests I had over the cause of 6 months, feel this is the only test I would consider having again.

Also there is a lot of scaremongering as dated and out of context statistics are used to suggest high miscarriage risk through amniocentesis. However recent research largely indicates that risk is far exaggerated and overstated obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.14636

*course not cause

Sorry to hear you're going through this. It's good that the NIPT has come back clear. I think I would go for amnio as well because then you can get the full karyotype analysed to see if there's anything else that could cause the raised NT. NIPT obviously only looks at the three trisomies whereas with amnio you can find out so much more. Amnio would also give you a definite answer instead of a risk rating.

I have had amnio twice and CVS (similar) once and I've never had any issues with the procedure. It's a bit unpleasant when they poked a needle through the skin on my tummy, but it was numbed first and actually the procedures weren't that bad. I was told that the miscarriage risk is very low so I wasn't particularly concerned about it. It was obviously stressful, and the wait for the full karyotype was quite long, but it was worth it.

We ended up with a Turner's/XXX diagnosis with our first pregnancy, but got the all clear with the second one. I remember getting recommendations to contact ARC for support and information. Maybe they could also answer some of your questions? I ended up not using them but I've heard really good things about them. Sending you strength and good luck.

@ladyp87 I've just come across your post and wondered how you are after your amnio? Sending good vibes x

Thank you everyone. The procedure it's self wasn't too bad. A little uncomfortable but fine. Had my initial results which are all clear! Thank goodness considering the NHS screening gave me a 1:7 of Down syndrome and 1:100 of Edwards and pataus. Just got to wait the full three weeks for everything. I don't know what that could bring up but then neither did the midwives? 🤷‍♀️

@ladyp87 glad you got the initial results back and they're fine. High NTs can be isolated and for no reason whatsoever. There are so many stories on here of women who had a high NT reading and it resolved itself and the baby came perfectly healthy. You've got all the right in the world to be positive. 🤞🏼

However, the initial results only the Amnio only include a fraction of the chromosomal abnormalities, usually the most common trisomies 13, 18 and 21. I didn't have the Amnio but had a CVS and it was tested for more than 30 possible abnormalities, so I imagine the Amnio is similar, if not even more thorough. For some of these a high NT is a soft marker.
That the midwives say they don't know what that could bring up sounds like nothing but trying not to put anything into your head or any kind of guessing, it's not their job and I wouldn't be surprised if they were trained to not participate in any "it could be this or that".

Hi @ladyp87
I was just wondering how you are going?
I’m in the same situation, fantastic nipt results to then being surprised by nt of 5.3.
An amnio is being discussed for a few weeks but I was told there might not be any point because I could lose the baby before results come back in…

Hi @Bibbidiboo, sorry you are going through the same thing, I know how stressful it is. My full results came back all clear and all scans have shown baby to be growing well with no heart defects detected. I'm nearly 31 weeks now. ARC did say when I called them that sometimes these high NT measurements are benign. The NIPT does seem fairly accurate. Best of luck to you, really hoping everything is ok with your little one

@ladyp87 wow that is amazing!!
Thank you for the update.
Enjoy your last couple of weeks till the big day

Has the nt gone down or is it still thickened?

@Bibbidiboo the NT measurement was never mentioned past about 13 weeks. It was more around tests and scans to check for things a thickened NT could indicate like a chromosome disorder or heart defect which luckily baby seems to have avoided. Can't wait to meet him now then I might be able to stop worrying