NIPT or Amniocentesis - don't know what to do

[BeastAngelMadwoman]

Hi Mumsnetters,

I had a phone call today to tell me my risk of Down Syndrome is higher. It's not as high as some people get but it's still come as a shock and understandably is really worrying me. I've booked in for the NIPT but she also told me I had the option of Amniocentesis at 16 weeks. I know they claim the NIPT is really accurate and so if I got a low risk result from that I could almost rule Down Syndrome out. However, I've also read that it's not diagnostic and despite it saying low risk, it doesn't actually rule anything out. I don't think I can ask for both so it would be Amniocentesis at 16 weeks or NIPT only followed by Amniocentesis if the NIPT is high risk.

I'll be 14 weeks when I have the NIPT so would have to wait an extra two weeks for the Amnio, but I've been told the NIPT results could take 10 days anyway.

Part of me thinks I won't be reassured without the yes or no answer that Amnio could give me.

Any thoughts or advice? Greatly appreciated!

Anyone?

I’d go for the NIPT because the amnio carries a small miscarriage risk and I wouldn’t want to risk it if the NIPT was low risk. But its a very personal choice, and I guess possibly depends on what you’d do if your baby did have Down syndrome.

Hi OP, do you mind me asking what your risk was given as? (Eg 1:5 or 1:60 etc) I got 1:60 chance and on that basis went for the NIPT. But my risk was in real terms still very low so didn't seem worthwhile having a more invasive test.

what is your risk level? That would be my starting point for a decision on nipt v amnio.

What risk factor have they given you?

Do you have any initial thoughts on what you might 'do' if the baby has Down's Syndrome? That might steer the decision. I knew I would want to keep the baby so for my the (very tiny) risk of miscarriage associated with the amnio wasn't worth it and I went for the NIPT. My child does have DS btw (as the NIPT told us) so if you have any questions I'm happy to talk. Best wishes with your difficult decision.

I would also go for the NIPT. As someone who went through this (I went from a 1 in 4400 chance of downs syndrome to 1 in 24!) I felt so put at ease when it was explained that yes the test is not diagnostic but there are no impacts on baby and should you receive a low chance result from the NIPT (which I did so keep positive!!!) then you are actually in a better position than individuals who receive a low chance risk on the initial combined screen!! Any questions send them over it has literally been just 2 months since I was in your position :)

After my initial testing my risk of DS was high so I had NIPT and the risk came back low following that. The reason for my initial high risk was likely my age (41) so I was happy with just NIPT. I didn't want amniocentesis due to the risk of miscarriage

I had an amniocentesis, it was ok. The risk isn’t that high but you should take the amount of time off work that they recommend.

Just so you know. You absolutely can have both if that’s what you want. However the whole point of the NIPT test is to rule out false positives and prevent you having to go through an invasive test that carries a miscarriage risk so it wouldn’t really make sense to do both for most people.

Hi @BeastAngelMadwoman - agree with above, depends on what chance you’ve been given and what you would do with the information. I’ve had high chance of DS in two pregnancies. The first was 1 in 29 chance, went for NIPT as advised by midwife - came back low chance and that was enough to reassure me for the remainder of the pregnancy - and baby didn’t have DS at birth.
The second time I had a 1 in 2 chance, went for NIPT in the first instance which came back lower chance, then decided not to do amnio although was offered as well. However, will say that I don’t feel as reassured as I did the first time as 1 in 2 is very high and felt like a done deal to me. I felt I didn’t need that “100% certainty” amnio gives you as it wouldn’t have changed whether I would proceed with the pregnancy - but I do now wish I didn’t have a question mark over it, however small (I’m now 33 weeks and no signs of DS on scans but who knows).
I would say if you want certainty, amnio is the only way to get that - but there is a small risk involved (I was quoted 0.5-1% of pregnancies can miscarry after amnio by foetal medicine) and you have to wait until 16 weeks usually to have it done. In my experience, NIPT results were a lot quicker than the quoted 10 days - usually back within 3/4 days.

Hello!

Im currently in the middle of a really similar situation, we had a raised NT measurement at our twelve week scan and a high risk screening result so they advised me to have a CVS which failed, they then did a NIPT (results were back within 3 days) which came back low risk but still offered us the amnio due to other factors which we have gone ahead with. For us the amnio gives a yes/no which we feel we needed having had such mixed results with everything, the amnio results work in 2 ways so we have had a definite no to edwards/downs/pataus and are still awaiting the second half of the report, I would assume if this was the case for us then you should be able to have a nipt and an amnio, also time wise they do make it sound like amnio results take 3 to 5 days when actually you dont have a full result for 10 to 14 working days. I dont know if any of this has helped but I know it has helped me reading the process's other people have been through.

I really hope that you are doing okay because i know from how we are feeling at the moment there is no worse/more worrying feeling than facing tests xx

I would suggest Amnio - having had one myself.

I've had two amnios and I can vouch for the fact that neither of them hurt at all. In fact the first one I didn't feel at all, and the second one felt like a momentary scratch.

I was given chances of 25:1 so I felt the risk was worth it.

And to be fair, the dr who did it was head of the entire gynae team at a university hospital, with decades of experience and I trusted him.

Sorry to hear you’re going through this - I was greater than 1 in 2 and had the lot - nipt at 13 weeks, cvs at 15 weeks, amnio at 16 weeks. All results abnormal apart from amnio which came back normal. Baby still kicking around now at 27 weeks and scans appear normal too, so he made it through the invasive tests! I would do nipt and see what it comes back with. My hospital had said that even if nipt was low risk they still would do an Amnio if I really wanted it for reassurance, so worth asking your hospital. In my case I didn’t spend much time worrying about the miscarriage risk of Amnio but as others say I think it depends on your risk score too.
Feel so sorry for anyone going through the testing hell, it’s a horrific experience xx

Sorry, should clarify - they diagnosed confined placenta mosaicism with me so the NIPT was accurate to pick up abnormalities in the placenta. Didn’t want to leave the wrong impression. They say NIPT is pretty accurate as you say

Thank you so much for all your input. Sorry I posted and disappeared, it’s just been a lot to take in and a lot of worry. I phoned the screening midwife back and she was lovely and so helpful. She confirmed that if I don’t feel reassured by the NIPT, I can still have an amnio which at the minute is what I feel I’ll do but we’ll see.

Got the NIPT this afternoon and then we’ll go from there.

i had a risk of 1 in 50, decided to go ahead with Nipt - this came back as low risk which was enough for us. Decided not to go with amnio - we decided the risk of miscarrying what we could then find out was a healthy baby was too high. It’s such a worrying time - our results came back in about 5 days but it felt much longer . Hope it turns out well for you.

Hi, I hope you don’t mind me approaching you. I am doing the worse thing possible and reading up on peoples stories to get some reassurance. I had the 1 in 2 chance for combined screening but then low nipt. At that time I was positive and took the consultants word as gospel that she was not worried about my results. I am now 32 weeks and the femur is just under the 2nd centile so measuring small. All other measurements are fine. I am in total panick now that something is wrong and I feel sick. If you don’t mind me asking, what was your outcome? X

@Holiday0609 hey lovely! I had a low risk NIPT and continued to have femur measurements that were on the 0.4 percentile so absolutely tiny. I only made it to 30 weeks pregnant before delivery due to preeclampsia but my little girl is completely fine! So please don’t worry. To be honest my little one does have short thighs but her calves certainly do look longer so don’t panic!

Thank you so much for coming back to me. My 1 in 2 for the combined is now all I can focus on even though the nipt is low risk. Now the femur is measuring small it takes me right back to that 1 in 2 results. I feel sick with worry and I’m really struggling xx

Hi @Holiday0609 your posts resonate so much with me, I felt exactly the same having had a 1 in 2 chance and a low NIPT. The consultant at foetal medicine told me to forget about 1 in 2 and considered the NIPT more accurate than any soft markers he might see for Down syndrome on a scan - he said soft markers aren’t as accurate as NIPT so the femur length is unlikely to mean anything. But it wasn’t reassuring to me either and I was obsessed with threads about false negative nipts (of which there are a few but it is highly, highly unlikely).
i had a 4mm NT measurement at 12 weeks, 1
in 2 chance of Down syndrome my baby was born in December with no signs of Down syndrome, so the NIPt was correct for me
despite everything at the screening pointing to DS. I feel for you so much, it ruined my pregnancy and I felt overwhelmed and paralysed At times with anxiety. But the chances of the NIPT being wrong are slim to none. Sending love x

Hi @Bloodystressed1 thank you for sharing your story. I am really clinging onto every bit of hope I can find right now and reading your story does give me that. I have enjoyed this pregnancy so much and I have felt so well that getting the news that points to potential DS had just taken all that away. I’m trying my best to not overthink but it’s so so difficult. I’m so distracted and can’t help think I could be that 1 that gets the sad news. The amount of information you get thrown at you is so overwhelming and bloody confusing. All of my babies other measurements are fine. Fluid was only 1.2, baby is very active, heart strong etc but this one femur measurement of 5.15 has thrown everything out. Fetal medicine emailed my hospital yesterday saying that they are happy I have weekly growth scans but if I wanted more reassurance they would do an amino but I’m 32 weeks. I don’t want to risk any harm now. That then threw me into panick but the doctor said they have to give you options and it doesn’t mean they are concerned. Honestly it’s so scary. Xxx

Hi @Holiday0609 I was offered amnio too but I deliberated too much that it was then too late to do it by the time I decided I wanted certainty (24 weeks) and decided I would do it at 32 weeks instead as per their advice - but then that date arrived and I changed my mind. There was an absence of anything on the scans so I decided that I didn’t want to risk preterm labour.

if your fluid was fine at 12 weeks I’m assuming the result is mostly because of your bloods. I was told hormone levels really vary women to women and it doesn’t necessarily mean anything is wrong if the numbers are “off”. I found ARC really helpful in explaining it to me and listening to my anxieties if you haven’t already called them. I really feel for you but it sounds highly likely all will be well - easy enough to say I know and I never believed it either!! But NIPT was designed to detect DS and it’s so, so rare that it’s incorrect.

Hi @Holiday0609 i hope you are well? How did you get on if you don’t mind me asking? In a very similar situation and 36 weeks pregnant! So anxious!! Xxx