Abnormal nuchal screening test

[Evianfash40]

I went for my 12 week scan for my first baby yesterday and received the bad news that during the nuchal screening there was a lot of fluid around the baby and showed an abnormal result. I just want to see if anyone else has experienced this as it's my first and I found the whole thing really heart breaking at the hospital. I had to wait 40mins for my scan and I knew immediately something was wrong, I shouldn't have gone on my own but I wasn't expecting anything to go wrong having had a good private scan at 9 weeks. The sonographer was very quiet and then just said there was a lot of fluid & skin oedema which was prominent suggesting high chance of chromosomal disorder - downs etc. She then asked if I still wanted a photo, like she'd already written my baby off, then gave me a picture which was not a great angle but I felt like she was dismissive and insensitive - she didn't perform rest if scan - I didn't get to see what was on the screen. I was left in waiting room crying whilst waiting for my blood test as it was the combined test and after I had it they moved to a private room whilst I waited to see consultant. She did another scan which confirmed what the first sonographer had seen and advised me to wait for blood test results which should come to today and to then take the cvs test tomorrow. I am so devastated - and also frustrated with how the hospital handled it - I have no nuchal measurement - so I don't feel like I can put into context how bad it is. I just felt the consultant had totally written off my pregnancy which suggests what they saw was really not viable but no-one has explained to me what they could see. I found it hard to look at the screen because I could see what looked like a normal baby, beating heart with feet and hands. I'm so upset, has anyone else been through this?

You poor thing. It does sound like the hospital handled it clumsily. I hope they get back to you quickly today and you can quiz them re exact nuchal measurement, blood results and whether there were other risk factors seen.

With one of my pregnancies the baby had a high nuchal reading and was given a 1 in 10 chance of Down Syndrome. I immediately paid for private screening at an amazing place in a London called the Fetal Medicine Centre. If you are near London I couldn’t recommend it highly enough. The professor who runs it is the top fetal medicine doc in the UK, he actually invented the nuchal scan. They were so helpful, knowledgeable and reassuring. They spent ages explaining everything to me. There I had the Harmony test and thankfully it came back low risk. My baby was born without any problems.

I also called a charity called ARC - Antenatal Results and Choices. They were also very knowledgable. You could call them before your blood results to discuss what questions you should ask.

Good luck with your further results. Thinking of you.

I'm really sorry. That does sound an awful lot like my experience when the baby turned out to have Edwards syndrome. When they start talking about finding out what is wrong rather than whether it is wrong you know you are in trouble. CVS will tell you for definite if there is a chromosomal problem. I really hope for you it isn't, as it was a terrible thing to go through and I wouldn't wish it on anybody.

Hi,

Was the nuchal measurement not printed off and put in your notes? The exact same thing happened to me. My measurement came back at 3.8mm. I was taken into a room and they explained that this could indicate downs ect. Although the midwife I spoken to was very nice and she did explain she has seen cases of nuchal measurements coming back at 4/4.5mm and the outcome being fine she was still sat there taking about medical abortions! This scared the hell out of me. I had my bloods done which although I don’t understand the results they were apparently we’re all over the shop.
I had cvs done about a week after I got my results as I come back at high risk 1/8 of downs and 1/466 for pataus and Edwards.

Not going to lie the cvs wasn't pleasant but 100% worth getting it done. After 4 days I got the all clear for the first part for downs and the other two. They also asked me if I wanted to know the sex and I said yes. A girl ! I was on top of the world.

A week after I got the results for the second part. Unfortunately they did find a genetic condition. But it’s a condition that nearly always only effects boys. It’s a mutation on one of her X chromosomes. But her being a girl and having two Xs the healthy x can cancel out the condition meaning she has no symptoms. She can also just be a carrier so me and my other half have both had tests done to see which one of us is a carrier.
I have been struggling to enjoy my pregnancy since finding out and we are still waiting to see a genetic councillor.
The conditions won’t be too serious if she had it. Worst case scenario it will mean her being vegetarian and having to take supplements. The condition could mean her body can’t remove ammonia from the blood meaning any high protein foods such as meat and fish will be a no no.
I am feeling optimistic tho.

I am just so happy it’s nothing bad like turners syndrome.
And on the bright side, if I had not had cvs done I would never have know. She could be fine but if she does produce symptoms at birth it quite often going undiagnosed/ misdiagnosed. So at least she can be treated properly.

After speaking with the genetic councillor 🧬 on the phone he had said because everything else has come back clear and what they have found does not explain the increase nuchal measurement, it could be nothing but it could also indicate a heart problem. I’m now under fetal medicine. I have scans booked for 18 and 22 weeks. Are you under them now. It was them that preformed the cvs.

Good luck. Tell us how you get on.
Xxxx

Good luck xxx

The hospital haven't handled it very well at all. Are you taking someone with you today ?

It sounds like the hospital handled it terribly, I'm so sorry.

When we went for our scan nothing was indicated to us, but after the blood results came back, I got a call saying our baby was high risk of downs. 1 in 85. This was because of a high NF measurement (2.9mm) I queried this as I believed this measurement to be normal. They said it was, but the high end of normal.
I also had low PAPP A hormone which is to do with your placenta function. They said this added to the downs risk and had associations with small babies.

This was on a Friday night so I had to sleep (well, I didn't sleep a wink) on it until Monday. We then paid for a private Harmony test. It is an option to you if the hospital haven't talked you through it and you don't want CVS or amnio. They take some of your blood and culture the babies DNA. It is a screening test but is 99% accurate as opposed to the 85% of the NHS combined screening.

Our Harmony test came back with a risk of 1 in 10,000 which is their way of saying the baby did not have downs. I am currently staring at my 3 week old DD, who was born without any chromosomal abnormalities. She was also not small, weighing nearly 9lb.

Thanks for all your replies, I'm going to request the cvs test asap but I'm at a bit of a loss what else to do. I was going to ring the hospital this morning (I have my mum staying with me now for support) to request to have the scan done again and someone explain to me what they can see and answer my questions, I had to hand my notes back to reception and nothing was given to me to takeaway so I don't know what the monographers findings were - nuchal measurement etc - I just felt it must have been so terrible because I felt like the wrote off the pregnancy there and then. I don't want them to sugar coat it - I just need clarity to know what is going on with my baby so I can process it all. I'm tempted to book an appointment with the fetal medicine centre either nuchal test or harmony test just so someone can explain to me what they can see. They didn't even check rest of baby yesterday so I just felt like they had decided it wasn't viable.

How are you @Evianfash40 ?

I'm not great. My nuchal measurement came back at 10.4mm which is extremely high with fluid all over baby. My bloods came back with a 1 in 4 chance of downs & 1 in 9 for Edwards & Pataus. I'm heart broken. I'm having cvs today and scan so someone can explain to me what they can see.

I'm so sorry, that sounds very scary.

We're all here for you. Please post if it helps.

So sorry you are going through this.

Sending hugs x

Hi I am sorry you are going through this.

This happened to me, nuchal was 11mm with severe hydrops. I second ARC as a great charity to speak to
www.arc-uk.org/

In our case we had CVS which showed trisomy 21. We were told that the baby was very ill and wouldn’t survive to the end of the second trimester.
We had surgical management at Marie Stopes.
It’s one of the hardest things I have ever been through, but now 8 years on I don’t think about it much. We now have a healthy DS7.
Don’t worry about the CVS- it doesn’t hurt. They can have initial results back pretty quickly too.
Do you have a gut feeling about what you’d want to do if there is a chromosomal abnormality? We were told the hydrops means a heart problem usually.
Take care
PM me if you want xxx

How did it go?

Really hope your okay op x

I went in for the cvs test this afternoon but they couldn't do it until Monday morning so I have to wait until then - I won't have first set of results until Thursday next week which seems like forever away. I was not feeling hopeful at all and not wanting to get my hopes up as hospital painted a bleak picture but today consultant said she'd had women who'd had higher nuchal reading than me that went on to pass cvs & have healthy babies & some women were not so lucky. She couldn't tell me what to do she could only give me as much information as possible. I asked to have a scan today as I felt I was so upset on Wednesday and couldn't process anything - and it showed fluid all down babies spine and across tummy - fluid still measuring around the 10mm mark. At that point I was a mess because on screen my baby is moving, has a healthy heart beat, 4 chambers, 2 little hands & feet, normal size. I found it so traumatic to see. The consultant advised not to make any decisions until Thursday but it feels forever away. I think they think it might be Turners because of the high Nuchal reading. Each day just gets harder as I feel my belly growing and being stuck in limbo, I feel so attached & protective of this baby. My other half has been working in Singapore but has changed his flight to be here tomorrow which will help, but he lives in Geneva and I live in London, I was planning to move in November if all went to plan with baby as we've found being apart really difficult. I don't know what we're going to do now. Just need to take each day as it comes. Terrified at the thought of terminating my pregnancy at this stage and what that entails. I have already put wheels in motion for counselling. Found it so helpful hearing from others who have experienced similar.

Oh OP I’ve never been in your position but my heart goes out to you, every emotion is coming out through your post and I just want to reach out and give you a big hug.
It’s not much but I’ll be thinking of you and keeping everything crossed that you’ll be the next one on the list of lucky ones your consultant spoke of

Oh OP I'm so sorry. Sending big hugs. Stay strong x

I'm so sorry you are going through this. I agree that ARC-UK is a great help, especially their helpline.

I had a tfmr in January as my baby had Downs and a number of additional severe problems. I know from my own experience that visible fluid beyond the nuchal measurement is often a bad sign.

Take each day as it comes, and don't feel you have to rush to a decision should you get bad news from the CVS.

Don't be afraid to love and enjoy your precious baby, whatever the future brings. I am really hoping for a good outcome for you.

Sending you so much love, I had a cvs and literally cried and was numb for days waiting for the call. I removed all baby stuff from the house as it was too painful and I too felt like they were constantly asking me when I wanted to abort my baby, it was awful

The results all came back ok and I have a very healthy 15 month old boy, but I'll never forget how I was treated. It literally broke my heart

Keeping all my Fingers crossed for you xx

Thanks so much for all your messages of support - really means a lot at such a difficult time. @Lotsalotsagiggles may I ask what your nuchal fluid measurement was?

I am not holding out much hope and trying to be realistic as my reading was so high but its really difficult when you see the scan and baby wriggling away.

I'd need to look it up, but I know we were 1:30 for downs or turners and something else

And they kept going on about how it was high and what did we want to do re our baby. It broke me and they kept asking and asking

Like I say after the cvs he was all fine and they would have pressured someone to terminate over nothing. Scary thoughts!!

My Papp A was off too I remember that

Just to update - had my cvs test today. I went in this morning and they couldn't get a good angle to do it. After a few attempts of trying to find best spot they asked me if I still wanted to do it because if I was planning on having a termination what difference did it make - all whilst they were laughing & joking at not being able to get a good angle/find placenta. It was so awful, I was furious & told them I wasn't leaving until they did the test and would not be basing any decisions until I had the results. They managed to get a good sample in the afternoon and babys heart was beating strongly so now I just have to wait. It is the hardest thing I have ever experienced - I haven't slept since my 12 week scan, I've barely been able to eat, I can't look at my little bump because I feel so sad at the thought of losing my baby. I can't do much else now apart from wait until Thursday, I am expecting the worst but praying for a miracle. x

Sorry that sounds awful. I didn't want to leave you unanswered. They were very insensitive. Of course you want to know for sure. I'd be considering a complaint if I were you.
Try to stay positive but realistic as you are. Over the years I've read quite a few threads like yours which turned out ok.
Thinking of you x

Wishing you all the best try and keep being strong for your little one no matter what it's all ur decision an no one eleses is there any way u can change hospitals as I don't feel like this one is helping you very much xx

Can I just say that hospital sounds like a disgrace! You poor thing.

I had a NT of nearly 5 and baby was healthy... it does happen.

I'm so terribly sorry for you, it's an unimaginably horrendous time and no one really can understand unless they've been there.

I'll keep you in my thoughts this week 💐