Very high risk for all 3 trisomy’s - handhold needed

[Maybepossibly22]

Looking for some advice/a handhold

I’m 13+2 with my 3rd pregnancy, 1 healthy DD and a MMC in 2022. 12 weeks scan last Wednesday saw a NT of 4.7mm but no other abnormalities. We had the results back from the combined test today that we have a 1 in 5 chance of DS and 1 in 6 of Edward’s and Patau. Papp-a and bHCG all within normal levels so the NT and my age of 35 I assume have pushed the risk up.

I have a CVS scheduled for Wednesday to get some definite answers but I am spiralling with anxiety.

has anyone been in a similar situation with a positive outcome? I’m distraught at the thought of losing this baby too

Thank you all for your support. Initial results have come back clear which is a relief. I feel confused as what could come back from the full array though - the screening midwife said it could still be something “significant” but wouldn’t give me anything more than that. I was hoping to relax a little but that has caused more anxiety

Thats great news OP - hope you can relax and enjoy rest of your pregnancy xx

Go for the nipt first if u can
First screening is pushed up by age
We had a t21 diagnosis we were 1 in 3 on screening
Nipt was high risk 90%
Amnio confirmed but I miscarried 2 days later
for us we didint want to go ahead with t21 pregnancy But if we had of id have trusted nipt results and not took any other risk x

Well, that wasn't very helpful. How annoying, after waiting like that.

Can you just have the NIPT? At least you'd know where you were.

I think what OP means is that the tests for DS, Edwards and Pataus (the trisomies) have come back as not showing these, but that the sample has been sent for more comprehensive genetic screening called a microarray which looks for other genetic conditions. The NIPT wouldn’t add anything at this point as you’ve already had a much more accurate test.

OP sending solidarity. I was in the same boat this time last year, same age with an NT of 6.3mm. Our chances were 1:5 for DS and 1:42 for Edwards and Pataus. I had an amnio which didn’t show any of those and then a microarray which was also normal. Our little boy is 6 months now and he’s fab. It was a stressful and upsetting time and the waiting for each stage was awful, as a warning I think we were told the microarray would take about 7-10 days and it was closer to 2 weeks, but hopefully you’ll have more results soon and can enjoy your pregnancy.

Thank you, yes this is exactly what I mean. Glad to hear your little boy is doing well - hopefully mine will be the same x

Really hope that it’s good news for you. Keeping everything crossed.

@Hoping4amiracle I saw your message re: where to look for more information and thought I'd reply as I was in a similar position to you last year.

The Downs Syndrome Association were very helpful. I phoned them and asked them to talk me through the potential challenges and how other parents manage things such as childcare from baby through to teenage years. Antenatal Results and Choices (ARC) were also very helpful - I phoned them a couple of times. I also read "For the love of Oscar" and "Don't be Sorry" which were written by a lady whose son has Downs Syndrome.

My NT has cone 5.1. My doctor has asked me to get NIPT done which will take 10 working days. Im so worried that I am unable to concentrate on anything. Someone please guide me this is my first pregnancy and im 12 weeks 4 days.

Keeping in my age 37 even more scared me.

So happy to read what you all are going thru. Hope all the mommies have their lovely babies healthy and safe into this world…

Hi @Skyland24 ,

I am so sorry you are in this position, it was the longest and most difficult week. What were your results? What are you high risk for?

For us the NIPT came back low risk, we opted not to have any more testing as we were highest risk for DS and we had decided to keep the baby so weren’t willing to risk the pregnancy with an amnio.

i don’t have any advice on how to stay calm, I wish I did. All I can say is that my screening results were as high risk as a non-diagnostic could give and yet NIPt was normal. I don’t want to give false hope but I do think age plays a massive factor in your risk levels xx

My NT is 5.1. I have given my NIPT test yesterday and awaiting for the results. I’m hoping its low risk but even on low risk i would like to have amonio test done just to be sure.

There is nothing i can do in this case but only pray. Im so worried.

Thanks, what about your blood work was that normal?

Your risk (assuming you are UK) is calculated using your age, Nuchal translucency, Papp-a and HCG levels. I’ve read a few posts on Mumsnet from ladies that have had high NT and been ok, don’t give up hope x

I reside in the UAE -My NT was 5.1 and Double marker has been horribly wrong.

HGC 30.5
papp-a 1.15
T21/ T13 and T18 all have come positive in the above test.

I have been advised to do NIPT which was done yesterday 26th but im getting so rest less. Im unable to concentrate on my work. I cannot take off from work as well. Im so stressed and scared. This has been the worst I could ever go thru in my life.

Im hoping my NiPT comes all clear. I can only pray and rest is gods wish.

Hi all

I had a NT reading of 4.9mm on Monday
my blood work came back today and I have

1 in 2 chance of downsyndrome
1 in 5 chance for patau and edwards

going for CVS tomorrow morning and really worried.

im only 29 so the high risk is solely from my bloods and the NT reading.

@Molsrose94 I’m in the same situation have given NIPT 2 days ago and now waiting for atleast 10-15 days for the result.

I wish I could comfort you but this phase is the worst I’m going thru. I have left it to god to decide what is good for me. Praying for mine and your tiny little life to come soon on this planet safe and healthy.

I'm so sorry hun!
was your readings the same as mine ?

1 in 2 and 1 in 5 ?

wishing you the best and praying for us both xxx

Any updates hun?

Hi @Molsrose94 and @Skyland24 - can’t offer any advice but can offer a hand hold at this time.

@Molsrose94 I was 1:2 for Down syndrome but NIPT came back low risk and consultant has been monitoring but so far no soft markers on the scan that would be of concern. It’s not much comfort just now but this is just a screening test and not a diagnostic. Try and keep some hope xx

Hello all

I went for the CVS
Will hear back by Monday Tuesday latest

scan seems all fine and she had no issues with this

thanks everyone

@Molsrose94 pray all is safe. Keep me posted. My NIPT results will take atleast 10 more days.

My full results from CVS came back clear. We had an echocardiogram just over a week ago which showed no major abnormalities with the heart. We’ve got our early anomaly scan tomorrow which is the last “scary scan” to make sure that physical development is all ok with baby. Our 12 week scan didn’t show any major deformities other than the increased NT so keeping fingers crossed!

It was thought my baby had Edward's on the basis of a scan. I refused an amnio. He was born. He didn't have Edward's. It still haunts me that we could have lost him through not sufficient experience.

Can I just say that a baby having Edward's does not mean the baby will die.

Yes. My ds2 went to preschool with a little girl who had Edwards syndrome. They went to different schools and we lost touch but the last time I heard she would have been about 13 I think.