Risk of Edward’s and Patau’s syndromes

[AleMc]

We had our 12 week scan last week and the nuchal translucency showed a nuchal fold of 4.5mm. At the same day, we had the blood tests and the results showed 1:7 chance for Patau’s and Edward’s, and low risk for Down’s.

I was referred to the Fetal Medicine Unit from St Michael’s Hospital, in Bristol, and we tried to get a CVS done today. Due to the position of my placenta, they couldn’t have it done, so we will need to wait a couple of weeks for the amniocentesis.

I think I just need some reassurance. Is this 0:7 risk too high? Did anyone have issues with the NT and blood test, but then the baby was born fine?

Hi, I've not had high risk for edwards or patau but have read some threads on here where people have had a risk of 1:5 and the baby has been ok.
Hoping you are doing ok, try to keep busy through the waiting xx

Hi,

I had a NT of 6.8mm and screening results were 1:5 for all three trisomies (although I think this was fuelled by the high NT vs. my actual bloods).

I've been where you are and the waiting is truly horrendous. Try to keep busy where you can. Every hour feels like days and it's beyond hard but you will make it through!

@starfishy I’m actually feeling better today, because the amnio has been scheduled. I get extra anxious about not knowing things, so waiting for the call from FMU was driving me crazy.
I hope these 2 weeks go by quickly!
Thanks for the kind words! Xx

@grownupkid The waiting is not easy at all.
I was so nervous that the HR of my company gave me both today and tomorrow off. So hopefully I will get some proper rest. 🙏🏻

And thank you for sharing your story with me. It’s certainly reassuring. Is your baby fine? Xx

@AleMc at the moment things are looking good. We had a CVS at 13 weeks, a heart scan and regular anomaly scans but nothing else has been identified since the high NT. Even now we are anxious and it's been a really stressful pregnancy but we are getting there. Whatever happens, I found FMU to be brilliant. There expertise and care has been fantastic every step of the way (much better than our local hospital).

Could you look at the harmony test?

@Grownupkid I really hope you baby is fine. Sending you all my best wishes and positive vibrations! Xx

@BusyLizzie61 Even the doctor from the FMU said that, at this point, she wouldn’t recommend getting a Harmony test. But it’s because it would be about percentages again and, considering the risks, it might show high percentages as well. And we still need an amnio anyway.

[quote AleMc]@BusyLizzie61 Even the doctor from the FMU said that, at this point, she wouldn’t recommend getting a Harmony test. But it’s because it would be about percentages again and, considering the risks, it might show high percentages as well. And we still need an amnio anyway.[/quote]
Different scenario and I was 1:36 risk and harmony gave 1:10000.

Personally, I'd have it, as there's nothing lost... Its not invasive.

@aleMc I am sorry you are going through this. I was given a 1 in 9 risk for Edward's and Patau's syndromes, so I know what you are going through. I hope you are OK.

I had both the NIPT and an amniocentesis. Like you, everything was in the wrong place for the CVS so we had to wait. Our NIPT test gave us a low risk outcome, but I knew I would worry for the remainder of my pregnancy without knowing for sure, so went ahead with the amniocentesis. It was pretty quick and not as horrid as I imagined. Thankfully, the amnio came back fine in the end.

I am not sure if you've had a look at the ARC site, but it has very good info on the different tests. www.arc-uk.org/.