High NT(4.7-4.9) as well as High risk for DS(1/5) & 1/17 for Edwards Syndrome.

[glassspires27]

Basically I am just wanting to hear similar stories, where everything turned out fine in the end. I wanna hear positive outcomes from people who have been through the same. I know this still leaves me with 80% chance of it being okay. But with the combined level of NT. 4.9mm its freaking me out a bit. Thank you in advance.

Any news OP?

Hello, are you having the NIPT? I'd recommend although 80 percent is still good. If you move to antenatal testing you'll get lots more advice.

Hi, we had 12 week scan today and also had a reading of 4.9mm. We are due to have a CVS. If you are happy to share your outcome, if not that’s totally fine.

thanks

@ylleKmaiL we are in the same boat! Had our 12 weeks scan last Thursday and nt measured 4.5 which put our odds to 1 in 100 for downs and 1 in 75 for edwards/patau. Very worrying times to say the least! I had the NIPT blood test yesterday and should get my results next week, have you had your CVS? I opted for this at our scan last week however placenta was at the back so if we want diagnostic testing will have to go for the amnio.

Had one attempt at CVS last week couldn’t get access, back again today and still struggling to get access to placenta, one more try next week then it’s amnio next if no luck, but that’s another 3 week wait! Hoping for good NIPT results next week as well 🤞🏽

I think the waiting is the worst part isn’t it! Hopefully they can do the CVS for you next week! Keep me posted on how everything goes, I’ve been reading endless threads on here and the positive stories are what’s keeping me going at the minute!

@glassspires27 @Frenchie1204 @ylleKmaiL I'd love to know how things went for you guys, I'm currently going through a very similar experience. 🙏

We had to get amniocentesis as the bowel was in the way of placenta when trying to do CVS test. We got the main 3 results after 2 days - all clear! 1 week later we had the rest of the results and they were all clear as well. We had our 20 week anomaly scan yesterday and that was all good too. Fingers crossed for you, it’s a horrible experience to go through but try and stay as positive as possible! We also had NIPT results come back as low risk a few days before amniocentesis test.

@DandC2292 we had the NIPT test come back all clear and a 16 week scan with consultant who was happy with everything so decided not to go for any further/invasive testing. Had the 20 week scan Thursday however the sonographer was the concerned about the heart, but when seen by the consultant they saw a better picture but have a feral echo scan Thursday coming which was in place anyway due to the higher NT but will now be more reassurance from our 20 week scan. I wish you all the best with your results, it’s such a stressful time but have to stay positive and talk as much as you need to don’t hold anything in xx

Thank you for sharing your updates @ylleKmaiL & @Frenchie1204 I really appreciate it.

I'm so glad to hear things have been positive for you both and your pregnancies are running smoothly. I hope they continue that way too.

The waiting is the hardest part as my brain just runs wild with the all the possible outcomes. We are prepared for the worst but hoping for the best, I feel this is all we can do at this stage until we know more.

Good luck with the echo scan on Thursday @Frenchie1204 I hope everything looks good.

Do you both happen to know what your blood results were for the combined tests (HCG and Papp-a levels?)

Mine are really quite low for both:
0.22 HCG (1 is average I believe)
0.21 Papp-a (anything below 0.42 is considered low)

@DandC2292 thank you!
HCG 0.65
Papp-a 1.42
I wouldn’t try to compare the levels too much to an average/others as everyone is different (easier said than done!). There’s quite a lot of threads on here where people have had various different results and good outcomes. Have you had any further testing? I have fingers crossed for you x

I know, I keep telling myself the same thing but Its so hard not to compare and read all the studies @Frenchie1204. Just trying to inform ourselves as much as possible so we are prepared for all outcomes.

I had a CVS last Thursday morning, we are expecting results today at the earliest, but most likely tomorrow.

@DandC2292 I completely understand, at least your only a day away from your results which I wish you all the best for! X

@Frenchie1204 I wanted to update you, I had the call late this afternoon. The midwife from the fetal medicine team informed me that they have detected trisomy 18 (Edwards) in the placenta but due to placenta mosaicism they can't be 100% sure at this stage that the baby has the same chromosome issue. They are doing extra tests and we should find out next week 100% on the outcome.

We are obviously devastated by the news as it's now 'highly likely' and the 'most likely outcome' that the baby has Edwards syndrome.

@DandC2292 I’m so sorry to hear that 😞 I never contacted them myself but seen a lot of people post about the ARC who had been very helpful for them and sometimes it’s easier talking to a stranger. Praying for you that the full outcome results aren’t as bad as they may seem right now x

@DandC2292 sorry to jump on here but I couldn't not comment. I'm so, so sorry that you're going through this. My son was found to have chromosomal issues later in pregnancy. It wasn't Edwards Syndrome, but I completely empathise with the shock and difficult emotions it brings up.
From my son I now have friends with babies with Edwards and I know it raises so many questions.
As someone else has mentioned I would very much recommend reaching out to Arc. They are a fantastic charity. They'll call you and you can talk to them about your worries etc. Due to their great experience they're also brilliant at explaining things in better terms than doctors usually do.
Sending you so much love 💕

Wishing all you ladies all best wishes for your results, I can’t begin to imagine how stressful it must be for you all . About 25 years ago my neighbour at the time had a one in two chance of a baby with D.S. Her little boy was fine.
take care and keeping my fingers crossed for positive results

Hi sorry I didn't realise I was getting responses to this thread. Thank you all for your comments. I'm so sorry to anyone else that may have experienced this. He was diagnosed with downsyndrome. We sadly ended the pregnancy because we did not think we would be suitable parents for a child with downsyndrome and had to think of my current child as well and how this would effect her.
We were later told he likely would not have survived the pregnancy anyways as the fluid amount ended up 13mm and his chord ended up being twisted upon delivery.
I wouldn't wish this experience on an enemy.

@DandC2292 so sorry to hear that.

@glassspires27 I'm so sorry to hear that 💙 I had a TFMR last June as my son with brain damaged due to having strokes.
I'm so sorry you've also experienced this pain 💔

I wanted to update this thread as you've all shown such kindness @Frenchie1204 @ylleKmaiL @Bubbles021 @glassspires27 and I thought it might be useful for any future parents that might find themselves in a similar situation to in the future.

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 oh my goodness I'm so sorry 💔
It is the most selfless act any parent can make to save their child from pain. If you need anyone to talk to please feel free to message me. Sending so much love and strength over the coming days and weeks 💙

@DandC2292 I am so sorry to hear that, I imagine how devastating it can be to be told your baby has a serve condition. Sending love to you both through this difficult time and I hope you can stay strong, these type of decisions are not made easily but only you and your partner know what’s best for you all.
Not the same but we have been told this last week that our baby has a severe heart disease and a whole in his heart and chances are not looking good. As I’m 22 weeks pregnant we need to choose our options quickly so are in the same devastating conversations.
If you ever want to message and have a chat please do 💖 xx

My heart goes out to you- I’ve been there under fetal and lost one too. Please take care of yourself- it’s a horrid thing .