High Risk for Down's, Edwards and Pataus Sysndrome - Increased NT 5.2mm

[Miraclex2]

Hi, I am 26 years old and just found out I was pregnant with twins at my 12 week scan. Unfortunately, one of the twins has now passed away! we are heartbroken and now having to deal with this worry with the other baby.

I am now 14 weeks 5 days pregnant and I am really finding it hard to see any positive outcomes with my pregnancy due to the bad news that's come with the pregnancy already.

With the 5.2mm I am high risk for Down Syndrome (1 in 16), Edwards Syndrome (1 in 85) and Pataus Syndrome (1 in 85).

I am booked in next week for Amniocentesis Test to confirm / rule out any abnormalities but we are sick with worry! Has anyone had a high risk Nuchal Translucency of 5.2mm and had normal outcome and delivered a healthy baby?

Hiya sorry for your loss. I believe the closer you are to 5mm you do have a higher chance of being ok. Sadly I had 6.6mm and was pataus earlier this year. Which is why I researched for hours and hours. Mine was very high but I’ve heard much more successful stories for your measurement. Good luck! X

1 in 16 means 15 of those babies were fine so the odds are everything is ok, but best prepare mentally for all outcomes. The midwives will offer you things to read about Downs etc if you ask. Theres the Downs foundation too where you can learn more about Downs.

My pregnancy was slightly high risk (1 in 60) but he was completely healthy.

I had 1 in 1,900 for Down’s Syndrome with my daughter and she was that one, as we discovered postnatally. She didn’t have any of the heart/ bowel issues the consultant warned us about. She learnt to walk at 3, picked up Makaton signs brilliantly and then started using words at 3, and gradually put longer and longer sentences together over the next few years.

She is now nearly 10 and is brilliant with a wicked sense of humour. She’s just finished year 4 at a mainstream school, loves reading, drawing, Mario, RDA horse riding, YouTube, Hot Wheels, singing and dancing! There are challenging days of course, but I wouldn’t swap get for the world.

Hi, I'm looking for reassurance or any success stories.
I had a DD in 2018 which I had low PAPP-A with she was born at 37 weeks and was perfect.
I am currently pregnant with my second, baby looked so happy and healthy at the scan we had a NT reading of 1.3mm and head circumference was fine.
I had a phone call yesterday off the midwife to explain I had fallen into higher chance Categories for both edwards/patau syndrome.
My hcg was low (cant remember how low so please forgive me) and my PAPP-A was very low at 0.15MoM, I have opted for NIPT test as I dont want the risk of miscarriage.
Can someone please give me some reassurance i have cried non stop since I found this out.
We have had 3 previous miscarriages before this and this is our last chance i am devastated 💔
Thanks for taking the time to read

Fingers crossed the NIPT will be reassuring. I hate the combined test - it relies on so many proxy variables it’s just not reliable enough to place any kind of trust in. What should the HCG levels look like ideally?

No advice or experience but just wanted to say that I’m so sorry you’re going through this. Keeping everything crossed for you that it all works out, and hoping someone more helpful comes along soon

And don’t assume this is definitely your last chance. I’m currently 26 weeks with #3, had been trying for 3 years and this TT stint was bookended by early miscarriages (and I also had a CP in November 2023). The most recent miscarriage was 3 years to the day of the first, this March, so when that happened I thought that was definitely it, but carried on going through the motions, telling myself I’d give it until Summer before stopping and moving on. And then to my utter amazement I fell pregnant again in May! All my previous TTC journeys had been a year or well over! I’ve got everything crossed for you that all’s ok with this little bean though xxx

Im not sure what hcg should be as it drops at 12 weeks when the placenta takes over. I hope and pray the nipt test comes back okay. Thank you for the well wishes xx

As u have a low nt u should be fine. Low pap a could be for the need for aspirin (blood thinning) tablets. The nt plays a high factor and yours is well under the guidance of 3.5mm. Good luck x

Yes but it’s still a metric that somehow feeds into the combined test, but I don’t know what “good” looks like, as I was only given my overall chances for the three trisomies, and not the separate breakdown of the metrics they look at.

It’s hopefully a good sign that the NT measurement was low. With Down’s Syndrome, babies can still have the condition with a low NT measurement though (my daughter’s was only 1.9), but I’m not sure whether it’s a bigger indicative factor for T13 and 18…..