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!

Hi @LAURAPAX so I had the nipt at 14 weeks which came back low risk. I still proceeded to go to fetal medicine as my intention was to have the amino. I was that anxious that I just needed to tick all the boxes. I got to fetal medicine and the specialist looked at all of my bloods and then basically said, there is nothing wrong with your baby! She was very matter of fact. She said your combined screening was high risk simply because I had low Papp and I was 39. That test is all about the mothers stats. The nipt was low because that’s purely looking at babies DNA and that was perfect. She said she would still do the amino but there was more risk of me miscarrying than the nipt being wrong. That to me told me that she was 100% confident. I decided against the amino as I didn’t want to risk anything and it was the first time that I actually felt a weight lifted and that everything was going to be ok. My baby boy was born naturally. He was only 6lb which we expected as I had low Papp a but he is perfect and healthy.
I really hope this makes you feel somewhat at ease. Did you have nipt? If you can then see fetal medicine to discuss results please go. Honestly it helps x

Hi @Holiday0609 thanks so much for getting back to me. So glad everything worked out ok for you! xx

I already had a NIPT test done straight away at 10 weeks as i have had two miscarriages and failed IVF so was just desperate to know. My NIPT test came back low risk but my ratio was 3:10,000 (fetal fraction 5%). Trawling through forums though i've not seen anyones back back with that figure, everyone else seems to come back 1:10,000 but i didn't clock it at the time as i was so happy with 3:10,000 and then it said low risk. By the time my 12 week screening results came back i didnt take much notice of them because i already had the NIPT results. My 12 week NHS results which also came back low risk but 1:280 which again i was like, oh great low risk, but now looking back through everything i realise that this is actually quite a high risk and panicking that the NIPT test result is not good (false negative) and that maybe I had it done to quick and there is something wrong or that i am going to be that 1:280.

my 12 weeks results were:
NT = 2.1
HCG = 2.21
PAPP-A = 0.96
Age 38

I'm now 36 weeks and nothing I can do now (due end of feb) but the whole reason this has come up is because a scan at 32 weeks showed some slow / dropping growth which according to dr google can also be linked to DS. I honestly didnt pay attention earlier on as was so happy to actually have positive scans for the first time ever with no issues flagged now i'm losing my mind that actually there is a chromosome issue with the baby and we are going to get an at birth diagnoses. I'm really struggling with my emotions, i spoke to a midwife on friday and she said she would reach out to Fetal Medicine to have a chat with me but not sure what that is going to do at this stage tbh and i haven't heard back from anyone. I dont know how im going to get through the next 4 weeks tbh xx

@LAURAPAX orrr god your story is echoing mine. Honestly I completely feel your worry. Looking at your scores I don’t think you have anything to worry about at all. The nipt is almost 100% accurate and is not connected in any way to the combined test. I too had scans that constantly told me that baby was too small. He also showed to have a small femur which straight away points to DS. I had scans every 2 weeks because of this. I really do not think you have anything to worry about honestly. I went out of my mind and I could have quite easily let it spoil my pregnancy but I was determined to enjoy it with it being my last. In the end my thought process was, this baby growing inside me is a gift no matter what and I already loved he/she ( we didn’t know the sex) whatever the outcome this is our baby and we are blessed to have this chance. I would have loved it no matter what and I would have dealt with whatever was thrown at me. I had a bond already that was not going to change. I eventually settled and enjoyed life being pregnant. When labour came, yes I was on edge yes I was nervous but when he was placed in my arms, nothing in the world mattered but him. I am lucky but he was still mine whatever the outcome.
you’ve come this far now and you’ve been given this baby for a reason. Please just enjoy every second. It will all work out in the end. 🥰

Thanks so much @Holiday0609 it really does help to speak to someone who understands. It's just so weird as until the growth scan issue I hadn't even given the results a second thought, its now that the growth has been identified as an issue i'm losing the plot with worry, especially as it is not genetic as me and my partner are both much taller than average. I don't know im just suffering so much at the moment and genuinely dont know how im going to get through the next month. I'm speaking to someone in Fetal Medicine tomorrow so hopefully that might help, but i just feel like im going to be the wrong side of the stats (again!) i was so happy to finally to pregnant again with a pregnancy that was progressing after the trauma of miscarriages and failed ivf and was absolutely loving my pregnancy journey after the 12 week safe zone. I feel totally floored that i didn't realise DS markers don't often show up on scans and that there are many post natal diagnoses. I didn't even know that was a thing.

Need to take the position like you that whatever happens its a privilege to be here and that at the end of the day it will be our baby no matter what. I am struggling to bond now but hope once the baby is here that will change. I think because it is our first as well we just have nothing to compare it too and no way of knowing what is normal for me and all this new unknowns and anxiety. I wish I could just know for definite know instead of this no mans land of 'what ifs'

I've booked in for an elective c-section as i don't think my mind and body can handle trying naturally, i'm a jittering mess. Don't know if that's the right decision either but is the only thing I feel I have any control over at the moment.

Hopefully will all work ok like you said <3 xxx

@LAURAPAX I think you are just so overwhelmed with everything right now that you don’t know how to think or how to feel. You are given very little information and sometimes the information you are given is very vague so then you go off and do your own research. Look at my results, my combined screening was a 1:2 chance of DS. Now to me that was a definite my baby had it. Even the midwife that discussed my results was worried. She even advised against the nipt as a next step because she thought it would give a false reading. I was having none of it, I’d made my mind up that I had to tick all boxes and I had nothing to loose. I needed to prepare mentally for whatever was coming my way. The nipt was then low risk which then put a bigger spanner in the works. I could not get those first 1:2 results out of my mind. I was going to be that 1 person. Even through all the growth scans, I felt sick everytime. After my chat with fetal I was at that stage reassured. They were much more specialist and they were will to put their name to telling me I had nothing to worry about. It still stays in the back of your mind until your baby arrives but it’s much more specialist and they know their stuff.
I honestly think you will be fine. My husband is nearly 6 foot, I’m 5’7, both my other children are tall but they too measured small but were born perfect. These scans are not very accurate. Given all the worry I had would I do it all again? Yes I would in a heart beat! I got induced which I didn’t really want but it was the safest option given the small baby and low Papp a. It was all smooth sailing and the most magical experience. Please don’t let any of the worry spoil this journey for you. Honestly it’s incredible. I miss it already and my baby is only 9 months old. Look what you have been through to get here and cling onto that. When that baby is in your arms the feeling you will have is priceless. You can message me whenever you like, don’t bottle things up and please let me know how things are going. Ask as many things tomorrow at fetal medicine as you need. X🥰

So grateful @Holiday0609 thank you so much! Just can't believe i've got to 36 weeks and now everything is falling apart under me. I will let you know how things go today with FM. Also having daily CTG monitoring at the moment, it's just so much to deal with. Good to hear you would do it all again in a heartbeat. <3 i'll be too old to do it again, this really is my last opportunity to become a mum xxx

Hey @LAURAPAX how did your FM visit go? Are you ok? Xx

Hey @Holiday0609 thank you so much for checking in with me <3. Had CTG monitoring yesterday and afterwards a consultant came to speak with me who was actually one of the heads of FM at the hospital - she had looked back at my scan results from last week and was actually a bit concerned about potential placenta failure, something the consultant last week hadn't even mentioned! I was thinking oh my god this is getting worse and then I told her about the growth scan last week where the sonographer said the percentile had dropped below 7th percentile and then rescanned and it went up to the 11th (that's what was reported) so not giving me much confidence! FM consultant was like right let me scan you myself and find out whats going on. So i had her and another FM sonographer and they rescanned me, they also were aware of my stress regarding DS and they managed to show me that there are no visible markers on the scan and that the NIPT trumps the NHS screening (which i know i knew but she said the NIPT company wouldnt have reported a low risk result if they werent confident it was low risk so i do feel so much more reassured now. She also said my placenta was working well and she was happy.

Like you speaking to FM has really assured me and i feel like a weight has been lifted, obviously they can's say for sure but she was so direct and was essentially saying i was working myself up over nothing. I feel like I could trust her opinion and feel more relaxed about everything although of course wont know for sure until the baby is here. I've still got a c-section booked in on the 27th but not sure whether to try naturally instead now I feel a bit more relaxed. xxxx

@LAURAPAX wow! I am so happy for you. I told you not to worry. Honestly you’ve really got to try now and embrace this last stint. You’ve got this. I don’t want you letting stress take over and you look back and regret anything. FM are so so good at what they do and straight to the point which is what you need. Their confidence to me just speaks volumes. That nipt is nearly 100% and that’s why it’s so expensive if you go private. I had the low Papp a so my placenta could of failed and that’s why I had a scan every 2 weeks to check blood flow. When I had my baby the placenta was very small which made sense.
with regards to labour, personally if you have no risks I would try naturally with this being your first baby and what it’s taken to get here. They may induce you any way like me. Yes it can be long winded but I’m glad I did. If things became too difficult for you and baby wasn’t coming as they would like you could prove then taken for a section. Totally your choice though. I’m so happy for you though. I bet you slept better last night xx

Hey, i know this is older thread but anyway..Also interested in the above.
I have had the NIPT which all came back low risk, (opted to not have gender revealed).

But I can't help but still worry as I know its not 100 percent and is just a screening.
Brother has a child with downs.

Iv spoken to the hospital I'm currently 14 weeks and they've said they wouldn't perform an amnio based on my NIPT results being low risk. I'm trying to remain calm and optimistic but honestly struggling.

In Ireland we don't have that NHS screen that I read about however I did ask about the NT in my 12 week scan and she said it was thin and reassuring but they don't provide the measurement.

I know its all down to chance but of course I end up exploring here and tik tok 🙄 and see people showing their low risk NIPTs and perfect anomoly scans etc and then giving birth to DS. It terrifies me

Sorry for vent

I recommend this on every antenatal test thread 🤪, but I would really recommend giving the ARC helpline a call, you don’t have to be in England to call them - and they have so much expertise at supporting people through these antenatal testing concerns.