Devastated- high NT and no nasal bone

[ChicaXS]

Hi everyone

Firstly this forum is excellent and I have found comfort in many threads.

Sadly on my 12 week scan, the sonographer recorded my NT levels as 3.7mm. She also noted no nasal bone and with my age (36) she said I was high risk for Down syndrome. I was never given a risk factor as my bloods were only taken 4 days ago. Results are not in yet. I was referred to FMU the next day and through a detailed scan they concurred a high NT level and rushed me for a CVS.

I had my CVS yesterday and now it’s a waiting game. I cannot help feeling there is something wrong with my baby. The only good news was yesterday my NT levels did decrease to 2.8MM however my consultant warned me not to be optimistic as the CVS is the only diagnostic test to confirm the results. All other markers showed a perfect baby including liver and heart. Their only concern was the lack of nasal bone and high NT and age ( I will be 37 at birth)

Since Monday I’ve not been able to sleep and barely can move. I’m severely depressed and not been able to rest. The only time I find comfort is when I do sleep for the couple of hours.

I don’t know what I want to achieve by posting this but my OH has been amazing but is a very pragmatic person and only wants to deal with situations when they arise. In this instance he doesn’t want to discuss until we recieve the results.

I just feel lonely and am racking my brain. I don’t know what to do to help. I told the midwife to not give me the results over the phone as I’m not sure I will take them alone.

Has anyone else been in a similar situation?

Thank you x

I don’t want to give you false hope but an absent nasal bone and High NT could just be a natural variation if the baby isn’t white cacausian. Just try not to Google anything and take each step at a time. The ‘good’ thing about your situation is that you still have time to decide what to do if that worst case materialises.

This is a very worrying time for you and I am sure lots of others will be along soon to share their experiences.
The nasal bone is a very poor indicator for chromosomal issues, which is why it is not used in the standard NHS screening. Many people simply don’t have one!
It is good news that the NT had decreased.
I trust they told you about the organisation ARC?
Which day are you expecting the results?

Thinking of you and sending positive thoughts your way. Praying you get good news. I’ve been through the diagnostic process myself and it is pure hell in my experience xx

If it helps to PM me, I’m here and happy to talk xx

Thank you all! @Sussexmidwife I am aiming to call ARC tomorrow. I tried to register but had some issues. NHS mentioned results between 3-5 working days so should have Thursday latest.

@SarahD19 very kind of you, I Kay take up your offer. Feeling very distressed and lost. It’s such a horrible feeling not knowing. I can only feel for those who have been in my situation. I feel like I am grieving already but incompletely.

I have been online so much where my head literally is bursting with information yet not one article provides a consistent report on findings. Sadly it really is a diagnosis on each pregnancy and dependent on each condition. The only confusion I have is the decreased NT levels but even now I’m sceptical that it did decrease as it was a difficult scan.

I have sent you a PM
If it wasn’t possible to get an accurate NT measurement the sonography is required to state that. If they have recorded a measurement it should be pretty accurate. Bear in mind that sometimes we see NTs of something-teen - those situations do not tend to have happy endings. In your situation it may well turn out that thus is just normal variation.

I had a similar experience, age, high nt with 3rd pregnancy (previous 2 pregnancies had been miscarriages) and it had taken us 5 years of ttc to get to this point. We were declined bloods. So I remember the stress at the time and you have my sympathy. Someone told me that the only consideration would be if we were to end the pregnancy and we made the decision that if the baby was down syndrome, we would adapt. We took comfort that the heart showed no abnormalities and chose to continue with the pregnancy. The dc was not down syndrome and is in bed at the side of me stealing the covers .

Good luck with whatever you decide and try not to google!

I have no experience of your situation but just wanted to say that I hope you have a happy outcome

How are you doing? Have you had your results?

Hello everyone.

Just wanted to update you and sorry I have no responded sooner. Unfortunately my baby was diagnosed with trisomy 21 from the CVS results. Myself and my husband opted for a TFMR which was devastating. I never experienced such grief and I’m still grieving now however I believe we made the right decision.

You never expect this to happen to you and it was my first pregnancy after trying for nearly 2 years. Being 37 I am now looking into IVF since the fertility issues are overcoming us but whatever happens next i pray for a miracle and a baby. I’m still in shock and I want to hug every other woman that has gone through this or is currently suffering. I can only say it gets better and I have birth 2 months ago today and can save I am feeling stronger and ready to move on. I will never forget my baby and will always carry this suffering but I know and pray he is in a better place.

Please stay strong and though my results were borderline by bloods actually came back with a 1:9 chance of DS but my fertility doctor was extremely good since she escalated the CVS based on age and the NT. I am glad she did because I would have had a TFMR at 20 weeks otherwise.

Stay strong and wish you all the best x

I'm so sorry for your loss good luck on your ivf journey- my fingers are crossed that soon you'll have a happy healthy baby

Hey @chicaxs,

I'm so so sorry you had to go through this.
I'm almost two months on too, also TFMR for T21 + Omphalocele. I've had to have a procedure this last Saturday to remove left over tissue and slowly my bleeding is calming down.

Have you registered with the ARC forum? I found this incredibly helpful. No one who hasn't been through it knows what this is like, to make the decision to end your longed for baby's life, but I found so much comfort in reading other people's stories and share my own.

I hope that you get through this and have your healthy little miracle soon. Lots of love.

I’m so sorry to hear this. I had exactly the same experience above two years ago. It was definitely the right decision, and to encourage you, my 13-month-old is crawling around my living room causing havoc.

Thinking of you I had the same experience at in my late 30's - you will never forget your baby and they will always be part of your family. To give you hope I'm now 50 and have a lively 9 year old bouncing round - conceived at 40 and born when I was 41. ARC (Antenatal Results and Choices) are a wonderful charity and saw me through some dark days - do get in touch with them - you will find others who have trod your path. Love and hope to you.

I'm very sorry. I went through something very , very similar last year after a trouble free pregnancy & birth in 2017. It takes a long time to heal, & I'm still not over it. The shock of it all.

I've done counselling & doing CBT, which is definitely helping me. I was in touch with ARC too.
There is certainly hope, I am mid thirties with an older husband, & I now have a rainbow 5month old (without ivf). Take care & please ensure you access professional support if you feel you are struggling.
Best of luck with everything x

Thank you all your words and warm wishes are touching. I will register with ARC. Thanks again and your rainbow babies have given me assurance xx

Sending hugs 💕💕💕 went through Surgical TFMR last month for Trisomy 18. I’ve never felt anything like it so I know what you’re feeling. Take care of you and I hope your healing ok

So sorry to hear your news

@ChicaXS I had a termination at 13.5 weeks, hydrops and cystic hygroma seem on scan so baby had little chance anyway. I found out on day of termination it was t21. It was my a third pregnancy and I was 40.
First time I miscarried, second was. My toddler, 4th was a miscarriage and fifth was conceived when I was 40 but born when I was 41 and is currently sleeping in my arms as I write and keeping me up all night.

I was terrified to try again and I'm not going to lie, it was a difficult pregnancy. The consultant who did my cvs and scan said to me from looking at baby it was likely to be chromosomal and would miscarry if I did not terminate. But her last words were. I hope you don't give up trying. I did, it was bloody scary, but I'm so glad I did. The geneticist I saw told me at my age what happened was 1 in 80 and I had just been unlucky and there was no extra risk. Good luck to you and sending a virtual hug.