High risk screening-NIPT results worry

[CMOB25]

Factual first.

Endocrine/thyroid issue picked up at booking in.
NT measurement 3.6
Papp-a slightly under normal range
Age 39
BMI 29
Screening came back high risk Ds 1:15 Edward’s/patteaus (sp) 1:33

When I went for my 12 week scan, baby upside down and facing wrong way-my measurements were between 3.5 and 4. After jumping around, correct position ranged from 3 to 3:5. They went with 3.6 I guess this is erring on the side of caution.
Thyroid issues can cause an increase in fluid around the neck.
They can’t tell me whether the thyroid issue would affect Papp-a
I am desperately worried. I am hoping someone has been in the same position and can offer some reassurance. I am awaiting the NIPT results but declined a more invasive test initially. I will go amnio if NIPT high risk.
I would consider TFMR if it is Edward’s or anything that meant the baby had little quality of life. He looked so wiggly and healthy with long legs and nose bone visible. I go from being convinced due to the high risk to doubtful based on the variables of the screening.

i noticed no one has replied so just bumping. To offer any reassurance those results look like it’s been given a higher chance because of age and BMI. The results all go in a computer and that’s how it’s decided. It isn’t accurate at all. I know a lot due to 1:5 chance last year so researched a lot. Your results don’t necessarily set off any alarm bells for me (obv not a doctor and don’t want to give you false hope) but I have definitely seen worse! Keep me updated on your results. Hope it all works out!! !

Oh my goodness, thank you so much for your reply.
The wait is agonising. I’m on a pendulum thinking that it’s just numbers and gut feeling is fine to panic that I’ll have bad news. The wait is triggering past experience with a daughter that had cancer and the treatment and prognosis all depended on one result.
I have resigned myself to Friday to stop me anxiously waiting for my phone to ring. I will keep updated. Thank you again x

Sorry I don't have any experience but as a very pregnant mumma waiting to give birth any minute I remember the anxiety's around everything being so awful especially in those earlier days, let alone being told this - I'm sure you are feeling so worried. Sending love and positivity for a good outcome for you 🤞🏽

Thank you xxx hopefully I’ll be in your position too in the coming months and provide some reassurance to someone else xxx Also don’t listen to horror stories, I loved giving birth and hope you have your lovely wiggly baby in your arms soon x

@CMOB25 Thankyou! I have a section booked for Wednesday but started contracting today so may well be having him sooner than I thought! He took 4 years to conceive, our first baby. Just a miracle. Praying for your little one too, be sure to update us🤞🏽🥰

Eek! Exciting stuff!!! I hope it all goes well. I will post as soon as we know where we’re at.

It doesn't sound like they were able to get a very precise nt measurement, and it's close to normal. I guess your age and maybe bmi bumped your risk up but Nipt will give you a much more accurate risk assessment.

Fingers crossed for you and your baby !

Thank you so much. I hoping this will serve as a positive hope for someone when I update with good news of results. I can only think positively because I would be a mess otherwise x

I really feel for you. I got a high risk screening too and the wait for the NIPT results was awful, but it came back extremely low risk for everything. Thinking of you and hope you get the result sooner rather than later!

Thank you so much. Were your numbers similar? X

To be honest I can’t really remember now, I think my NT was smaller but Papp-A really quite low. Hopefully you’ll be the same and it’ll just be a vague memory at some point of a shitty couple of weeks awaiting results 🤞

Unfortunately, the NIPT came back with higher risk for Pataus.
Feeling sad and deflated as gut feeling was that he is fine.
I am booked for amniocentesis in two weeks. I’ve booked an early anomaly scan for two days time.
In a weird way I’m glad it came back as Pataus as at least an early anomaly will pick up markers and markers than are consistent with life limiting/markers that will show inconsistency with life after being born.
It will at least give me an idea of what I’m potentially dealing with rather than two plus weeks of anxiety and worry that I could have a healthy baby to look forward to or a decision to TFMR.

I've been there OP, and happy to give a handhold and hug. How far along are you now?

My first pregnancy, after 4yrs TTC, showed Patau syndrome (T13) on the NIPT. I was 38, slightly lower BMI and no thyroid issues. For context, the NT was 6.4mm and there were obvious issues on the scan- which even I could see when pointed out. Cleft face, not just a cleft lip, a cleft face! A large hernia around the umbilical cord and shadowing on the brain. Baby had a heart beat and was moving about as you'd expect which made it even harder. I was offered amnio or CVS, but the consultant thought it was fairly clear cut that it was T13, but ultimately my choice. I don't recall seeing the pappa/other readings at the time, but assume this supported the consultants suggestion.

I chose TFMR and the autopsy confirmed T13. DH and I had karyotyping testing afterwards, which showed it wasn't a translocation, but just a random event.

You might find the arc site helpful.

https://www.arc-uk.org/

I'm more than happy to answer any questions you have OP. I don't think private messages are currently working, but if they are, feel free to reach out there if you prefer.

Remember that you are not alone and this is not your fault xxx

Thank you so much for your reply. Sending a hug to you too.
I am hoping the scan will show some markers and praying it is false positive or confined to placenta. I can only hope. Nothing too obvious on the scan? I don’t think… currently 14 weeks x

So sorry to hear this @CMOB25, will be thinking of you as you go through the other tests ❤

Thank you xx

I went for my scan in London today.
Not the best news. Lots consistent with a healthy baby-brain, kidneys, liver, bowel, skeleton.
Fingers and toes fine apart from an extra finger.
However. Heart abnormal, no stomach, facial deformity on the nose, cleft bottom half of face. 😞
It’s consistent with T13 sadly.
I mean, he looks very happy and wiggly in there right now and that’s good.
It’s not fair to try to get to the end and him have a very short, painful few hours. I’m seeing the consultant on Monday to go through the options

Oh I am so so sorry to see you are going through this. We had a 8mm NT measurement at our 12 week scan and extra fluid on the baby’s chest. An NIPT came back high risk for Edwards. I can remember the awful two week limbo period before we had a tfmr.

Ive never doubted it was the right thing to do, and we were grateful to have the choice to avoid the poor baby suffering.

The next few weeks and months will be tough but I promise you will come through it x

I’m sorry that happened to you. For our other children, us and him it is the only decision, sadly. All he will ever know is a nourished, warm and happy life that was meant for him.

We had to make the same decision last year - I’m so sorry you have to go through it. Sending lots of light and love xxxx

I’m so sorry you’ve had to make this decision 🥰 sending you lots of love and support at this difficult time x