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Long term outcome for children with high nuchal measurement

(7 Posts)
GaryWilmotsWedding Mon 29-Jun-15 14:31:47

Hi all,

We're having tests at the moment after our 12 week scan showed a nuchal translucency of 4.6mm. My blood work was also very odd, being extremely low in both HCG and PAPP-A. Other markers for chromosome issues are not present at this stage.

We are considering all our options and working on getting more information, but I wanted to ask about the long term outcome for children who were high risk pregnancies of this sort but were shown to be chromosomally normal with no structural defects? It seems to be such a new science that there is very little information out there. Can anyone share their experiences? Have there been developmental delays or issues that have cropped up after delivery? Just trying to arm myself with some information to help us through this process.

I have a separate thread going on antenatal testing about the tests themselves where some mumsnetters have kindly shared their stories, but thought this might be a more appropriate place to ask this question.

Thanks in advance

MooMoi Mon 29-Jun-15 21:19:09

It's sounds like you're going through a difficult time, didn't want to read and run. I don't have direct experience of this particular type but I wanted to point you towards ARC in case you haven't already come across them. I hope all works out for you.

behaveyourselfbertie Mon 29-Jun-15 21:26:55

We had a very high nuchal fold measurement of 5.3. My bloods were within fairly normal ranges, but we were told by the nurse when we got our results that she had never seen such a high measurement without issues for the baby.

We undertook a CVS which failed, although not before they could tell us the baby had neither Down's nor Turners, and was a girl. We decided against further testing. I was monitored carefully up until about midway through the pregnancy for heart problems, but nothing was found.

Our daughter is now 4 years old and appears normal in every way a four year old can- interestingly, once she was born we were offered no support or extra monitoring!

GaryWilmotsWedding Mon 29-Jun-15 21:32:26

Thanks Moo and behaveyourself. I have been pointed in the direction of ARC by others and I am so glad I spoke to them. They are absolutely fantastic, and when all this is resolved (one way or another) I intend to do whatever I can to raise some money for them. They have been a lifeline.

Great to hear your experience behaveyourself, and how very interesting that you were not offered any extra support or monitoring...suggests we don't know what the long term outcome is for exactly that reason! Delighted to hear your DD is well and developing exactly as she should! Thanks for sharing. You'll remember the stress of not knowing all too clearly I expect, and your response is really helpful.

Thanks both

Possiblyneurotic Mon 29-Jun-15 22:59:14

We also had a CVS but DD has had no difficulties. She is only 20 months but has hit all of her milestones and is as bright as a button. Our nuchal fold measurement was 2.8 but when combined with my blood test results they gave us a 1/46 risk. Sending you lots of strength to get through the next few days and weeks - I will keep everything crossed for you.

behaveyourselfbertie Tue 30-Jun-15 14:17:27

Gary, the uncertainty is very difficult to live with, and I didn't enjoy my pregnancy, particularly the first 20 weeks when we were still waiting for answers on so many questions.

It really does seem as if sometimes the nuchal fold is high but it's not known why, although when I was researching this when pregnant I couldn't find anything about it.

My DD was my third- it was suggested that maybe it was something that they all had, like a physical quirk, but we wouldn't know as the other girls weren't tested.

Certainly DD3 seems no different to the others in terms of development.

I hope all goes well for you Gary, whatever choices you make in the future.

FindingNemoandDory Sat 16-Sep-17 10:19:04

Sorry to drag up an old thread but wondered if anybody else had any stories to share on this topic?

We've got a high NT at 12 weeks and Harmony has come back low risk for three main trisomies which is great - now worrying about other possibilities!

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