7mm NT - outcomes and options?

[Downtherabbithole83]

I’ve been reading every possible thread on here since Tuesday evening but decided to take the plunge and ask for advice other’s experiences.

This is my third pregnancy, first with my current partner. I already have two children and he has one, this baby was meant to complete the family. We’re older (he’s 40 and I’m 39) so we’d already discussed what we’d do if anything came up during the pregnancy (because of the impact on our children) but naively thought it wouldn’t happen to us - my other pregnancies had been straightforward other than needing c sections for delivery.

On Tuesday, we had our 12 week scan and the NT measured at just over 7mm. A huge shock and we were taken into the little room so the probable cause of this could be explained. We were referred to fetal medicine straight away and an appointment was arranged for the following day.

On Wednesday, we went back in where we were scanned again (measurement was confirmed but no other abnormalities can be seen at this point - they say I was just 13 weeks on Wednesday though my dates put me at 12w 5d) and eventually they managed to complete CVS from my awkward posterior placenta.

So now we wait… My bloods came back on Thursday as 1:4 DS and 1:77 E & P but we knew they’d be high because of the measurement and my age. I’m still being sick and feeling nauseous all day every day which feels particularly mean knowing we may have to go through with a tfmr. I have chosen to stay off work while we wait as I’m clearly showing and don’t want to talk about it until we know what is happening (plus I work at a school and know the little children will start to ask soon).

So really I have two questions:

For people who had a similar NT measurement, what was your outcome from CVS? Just hearing other’s stories of both outcomes is so useful at this point - I’m very open and my friends and family know what’s happening and have been great but no one else in our circle has been through this.

If we get a diagnosis and tfmr (which we know we would) I understand the options are medical and surgical. As someone who has had two previous sections, would one be recommended over the other due to risk of rupture? I know I’m only (almost) 14 weeks but if we have to wait for other results it could be much later.

Thanks for any help and/or personal stories. Reading everything on here has been so useful over the past few days.

Thanks @Thelongwayround and @jmm499.

After spending most of yesterday feeling guilty for feeling okay and wondering if I was being silly being signed off of work, today I’m in tears every time I think or talk about what has happened. I’m guessing hormones are to blame so plan to sit back and allow myself a day of doing nothing at all.

Oh gosh, I know I keep saying this but I was exactly the same. The first day or two I felt like I was taking the piss but in the end I stayed off for a week and I needed it - in retrospect should have taken a bit longer. (It will be different for everyone of course that’s just me.) The rollercoaster of emotions was something else.

Please keep saying it - it’s nice to know my reactions are ‘normal’. I’ve got 1.5 weeks off but in reality I’m not sure whether it will be long enough due to how much interaction I have with people and the number of difficult conversations I am expected to have at my level.

I'm determined not to go back until I’m ready.

Of course, I mean I don’t think there is a normal really and whatever you feel is valid from here on in - you are grieving a significant loss. There are definitely common themes and experiences though. I absolutely felt more sensitive than usual so if you don’t have much space to be vulnerable at work then it sounds sensible to make sure you’re ready.

I actually realised earlier it’s the one year anniversary of my tfmr today. It doesn’t feel that long ago but then again I have come a long way in terms of recovery and healing!

Wow @Thelongwayround - the fact that you ‘just realised’ gives me real hope that life can move on and return to some kind of normal after this experience.

As always, thank you for all your reassuring messages xx

I'm so sorry for your loss @Downtherabbithole83. I'm glad you were really supported by everyone around you including the NHS, and you are now on the other side and can start to heal and process.

I hope you don't mind, but I wanted to reach out as we are currently going through a similar situation. NT measurement of 4.4, small bit of fluid under skin on abdomen, bad bloods (low HCG and low Papp-A) 1:5 for Edwards & Patau and 1:39 for DS. I was wondering what your bloods were alongside your NT measurement?

if you don't feel like talking about it I totally understand, I appreciate it must all be quite raw still.

I am quite happy to talk about it - I think being open about it all helps.

My Papp-a was 0.44 and my hcg was 1.73

I didn’t know that until after our diagnosis thought.

Thank you @Downtherabbithole83 I appreciate you coming back to me.

I hope you are doing OK and that as time passes you can heal and feel stronger every day.

No problem @DandC2292

Are you having further testing? I found the people who checked in with me on here to be such a support.

I'm currently waiting for our CVS results to come back. I had the procedure yesterday and due to the weekend we won't find out until next Tuesday / Wednesday for the initial Edwards, Patau or DS results.

If that's all clear, we then need to wait for the broader chromosomes tests to come back which could be a further 2 weeks. All of this I'm sure you are already familiar with. The wait is excruciating.

We are trying to be practical and prepare ourselves for all eventualities.

I’m sorry that you are going through this - it’s so hard, isn’t it?

We were very practical about it all the way through and I did a lot of research so that I felt prepared. Understanding the science was really helpful for me.

Although we didn’t get the outcome we hoped for, I feel lucky to have got the information from the first set of results so that we didn’t have to wait longer.

I found the wait very difficult though so I feel for you. I told lots of people which I found very helpful as personally I needed to talk about it but I know this isn’t for everyone.

Thinking of you today @DandC2292 - hoping you get good results back! xx

Thank you @Downtherabbithole83 it's so nice of you to think of us. Trying to stay busy with work to keep my mind off things but it's tough. I'll definitely let you know the outcome once we hear anything.

I've read so many studies, blog posts and threads the last few days just to try and inform myself as much as possible. It's so hard to know what the outcome is going to be.

I know exactly what you mean @DandC2292

I have read so much in the past three weeks that I am now an expert in many areas I previously knew nothing about! Keeping busy is a good idea and I have found that putting my phone away for periods of time has also helped in recovery as I am still googling like a maniac - not even sure why now.

Hi @Downtherabbithole83 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 or not 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 was 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.

So sorry to hear that you are going through all this @DandC2292 and that you still don’t have a definite answer.

Do reach out on here if you need any support or someone to chat to.

@Downtherabbithole83 I wanted to update you as you've been so kind during the last few hellish weeks.

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. 💔

I’m really sorry to hear that @DandC2292

It doesn’t matter how prepared you think you might be, hearing an actual definite diagnosis and having that final bit of hope taken is just devastating. I remember it so well.

If you need anything or have any questions about the process, I found searching and asking questions on here to be such a help.

Thinking of you at this difficult time and I hope you are cared for as well as we were during the next few weeks. xx

Really sorry to hear that @DandC2292. And that it’s taken so long to get the answers you need. Sending lots of love and strength for the coming weeks xx