High risk screening - normal NT measurement, concerning blood results

[beaniebabybeans]

I’m new to posting but having spent hours reading through threads and forums I thought I’d share my experience and provide a space to hear similar experiences and outcomes.

I got the news that my combined screening results came back very high risk of Down’s syndrome which was based on the following factors:

Maternal age: 32
NT measurement: 2.3mm
Free beta hcg: 4.29MoM
PAPP-A: 0.35MoM

Following the initial ultrasound I naively assumed everything would be fine as the NT measurement seemed within normal range. However the blood work obviously made a drastic different to the outcome.

I met with someone from the screening team today who advised that the NIPT test isn’t really recommended to those who have been given a chance between 1 in 2 and 1 in 10 as the likelihood of a false negative is higher.

So instead we are heading back to the hospital tomorrow for the CVS which should give us a yes or no answer by the end of the week.

Does anyone have any similar experiences and what was the outcome? I’m honestly terrified and I bit overwhelmed.

Hi, I'm so sorry to hear that, I'm going through absolutely the same thing at the moment. I went on Tuesday for my 12 week scan and on Thursday they called giving me 1:5 for Down. I'm 38, Nt was 3mm, bhcg 6.22 and papp-a 0.76. Tomorrow is my CSV and I'm so scared it's unexplainable. Prayers for you hun 🙏

So sorry you are in this awful wait, I just spent a couple of weeks in it and know how horrendous it is.
I wasn't given the same information and the hospital team advised the NIPT as it has a 99% accuracy rate. This meant that I didn't have to wait for the cvs (I live an 8 hour round journey from the nearest place it could be done) or the amnio. With the accuracy of the NIPT, I was happy to base my final decision on the results. I did have to pay for mine as I didn't want to wait for the funding to come through (I am not in the UK) and I was so desperate for an answer. It took exactly 7 days for my results to come through.
For me it was also a huge shock as my scan had been fine but my bloods were 2.56 and 0.32 which put me at a greater than 1 in 8 chance.
Keeping everything crossed for you to get through the wait and that you end up with a good result. I found searching the threads on mumsnet really helpful and reddit also has some great threads with women going through similar situations.

Well today is the day I get the results back, the waiting has been absolutely awful but at least we’ll know either way by the end of the day… so nervous

Hand hold - I went through something similar around 2 months ago. I hope today goes quickly for you xxx

Hope you'll hear good news <3

Results came back with confirmed diagnosis of Down’s Syndrome but also the ultrasound picked up some defects with the baby’s heart and brain. Unfortunately we were the 1
in 8.

Sending you big hugs

Straight and courage to go through this hun ❤️

So sorry to hear this. I had a positive NIPT for Downs Syndrome in February so I know something of what you are going through. Sending hugs to you.

So sorry. I did not share my results in the first post but I was also 1 in 8. I received the call exactly one week ago today and I think the trauma of that call will stay with me forever. The delivery of the results was so matter of fact, yet my entire world was changed by it.
For me, as I was 'happy' to base my decision on the results of the NIPT, everything moved pretty quick. I had a surgical termination at hospital on Friday and now I am at home trying to figure out how to move forward. Thinking of you and here if you need to ask anything or need support ❤️