NT measurement 4.4, low Papp-A, low HCG. High risk

[DandC2292]

I think I've just about read every single thread on here to try and understand similar cases to ours and see how they turned out. All the threads seem to be quite a few years old though so I thought I'd start a new one to see if anyone else if going through this hideous waiting and worrying.

We had our 12 week scan on Monday and were relieved to see baby and a heart beat but then Sonographer brought the news that she had some concerns about baby.

Our NT was measuring 4.4 (they like it to below 3.5) and she could see some fluid under the skin on the abdomen and up over the head.

We were referred to the Fetal medicine team who we saw yesterday and are absolutely lovely.

My bloods and the NT measurement / scan findings have put me at high risk.

HCG low 0.22 (1 is average)
Papp-a low 0.21 (below 0.42 is considered low)

They've given us the odds of a 1:5 chance of Edwards or Patau and 1:39 for Down syndrome. The fetal medicine team seem quite positive still and have said there is still over a 50% chance the baby could be absolutely normal however, I can't help feel everything is pointing towards the negative.

This is our first pregnancy so we have been reading up as much as possible on how this could turn out but the worrying and waiting is awful. I feel it's put a cloud over the whole experience.

I had a CVS done yesterday, results expected next Tuesday or Wednesday.

Can anyone share their similar situations and how things turned out? 🙏

Hi OP - just saw this thread and wanted to share my positive story with you!

At our 12week scan my first child had an NT measurement of 4.8 and a 1:13 chance of Down syndrome. He also had the same fluid buildup as you describe with yours. It was referred to as a cystic hygroma that stretched from the top of his head to his elbow. I was beside myself with worry and stressed myself out in the 2 weeks it took to get our CVS reading every thread imaginable and googling. My best piece of advice by the way - STEP AWAY FROM GOOGLE!!!

The results of the CVS came back entirely normal. They confirmed the gender for us at the time as well so we knew much earlier what we were having and we're able to plan for his arrival.

I think one of the most reassuring things we were told was that at this early stage the baby is still developing and their lymph nodes may not be developed enough to properly drain the fluid that has built up. That to me made perfect sense.

After the CVS we were closely monitored by doctors and had scans every 2 weeks to make sure he was growing ok and to rule out any heart defects.

He is now a happy and healthy completely normal 11yr old!!!

Stay positive! I wish you the same outcome ❤️

Thank you so much for your positive story @SparklyMistleToes. It's so great to hear the more positive endings to these situations. I'm so glad you have a happy and healthy 11 year old!

I really appreciate your advice too! I think it's only natural to want to Google everything, I know it's the worst thing I can do and I'm trying to step away and just go with the flow. My husband keeps telling me the same thing, we are both worried and trying to stay busy.

Do you remember what your blood results looked like for HCG and Papp-A?

I feel bad that I keep thinking if things come back clear I'm scared I'm just going to be a nervous wreck throughout the whole pregnancy. At every stage thinking will something else go wrong 🙈 I know this is normal after being told things don't look normal.

How did you deal with this? I guess the scans every two weeks helped with this a lot, I think it's something I'll request if we get good news!

Thank you for your well wishes ❤️

If cvs comes back clear, you can ask them if it could be this lymph drainage issue, and when they could reasonably expect it to resolve by itself and get a scan for that week to confirm. Having scans before that will just make you stress more.
hope everything comes back ok x

Thank you @CristinaNov182 that's a really good idea, I'll definitely ask them about the lymph nodes drainage.

I guess what makes me worry more is my blood results seem so poor with both HCG and Papp-a being low alongside the increased NT measurement.

Sorry OP just saw your reply. No unfortunately I don't remember much from that long ago. No idea what my bloods were like.

I thought i'd give an update on our situation, especially if anyone in the future is to read this thread.

I had a call from our Fetal medicine midwife on Tuesday late afternoon and she informed me that we had been the unlucky 1 in 100 people where they hadn't been able to get a clear answer from the CVS. It's very sad but unfortunately they have detected trisomy 18 (Edwards) within the placenta but can't confirm at this stage if our baby has it too. I believe at this stage it's called Placenta mosaicism, however, It's not looking good, and we have been told it's 'highly likely' and now the 'most likely' outcome that the baby has it too.

'Confined' placenta mosaicism is apparently really rare when the mixed chromosomes only show up in the placenta due to how connected the baby and placenta are, and with my bad blood results and soft markers with the ultrasound scan we aren't holding out much hope that we will fall into that category.

They are performing additional tests on my original CVS sample that were taken and are doing a more 'old school' method (whatever that means) to grow the cells and see how they develop so that they can give us more certainty and clarity on whether the baby has it too, but this result most likely won't be ready until late next week.

I'll update this thread once we receive the final results.

I am so sorry to hear this, heartbreaking 💔 sending hugs 🫂

I wanted to update this thread for any future parents that might find themselves in a similar situation to us (I can only hope this thread remains unread as it means people don't find themselves in this situation as it's truly incomprehensible and heart wrenching).

I received a call today from the Fetal Medicine Team who confirmed that the further testing has shown our baby does have full Edwards Syndrome. We are devastated by the news and even though we had tried to prepare ourselves for it after receiving the first results from the CVS last week it doesn't make it any less world shattering. My husband and I have had extensive conversations over this matter for the past few weeks and have chosen to TFMR due to the severity of the diagnosis.

My thoughts go out to anyone who has been where we are today and anyone who may have to face it in the future. 💔

@DandC2292 so sorry to hear that. Nothing can prepare you for this. You’re doing the right thing, sending hugs 🫂. Hope you have a strong network around you for support.