High nuchal measurement

[heart2015]

Hi, this is my first post as I was hoping someone may have gone through as similar situation & have some advice.

At our 12 week scan a high nuchal translucency was measured (6.7mm) so were referred to Kings 3 days later for a CVS. I was rescanned and the NT measurement was now 8.8mm. Three days after the CVS we got the preliminary results back which confirmed that there was no sign of Downs, Edwards, Patau etc, but we are still waiting for our final report which will be another 1-2 weeks.

We were back at Kings yesterday for an early cardiac and anomaly scan – Everything was where it should be, the heart appeared to have 4 valves & the NT had gone down to 5.2mm, so it was as positive as it could be at this point.

However speaking to my midwife & the consultant has brought my partner and I crashing back down as they have both said that, due to the size of the NT at its highest point, there is a very slim chance of the baby being ok. The midwife even said that in her entire career she could only think of one example of a baby having had a raised NT and going on to be healthy!

We are both desperate for the baby to be ok but I’m concerned about the emotional toll that this is taking on us. We still have 1-2 weeks to get the final CVS results and another scan booked in 5 weeks. From what the consultant has said, all of the results & scans could come back perfectly but the baby could still be born with something that they didn’t pick up on.

We don’t want to give up at this point but it’s so hard carrying on & trying to be positive when the experts are telling you otherwise.

I guess I was just hoping that there may be someone here that has been through a similar situation and how they came through the other side, either good or bad – I'm trying to be positive but realistic (if such a thing exists!) I'm in the position at the moment where the only people that know are directly involved (partner, parents) which means I can’t really talk to anyone about this so I apologise for the huge rant!!

I have no experience of a high nt measurement.

I really don't want to be the voice of doom but our dd2 had no outward signs or symptoms of Edwards until 21 weeks. That's including a scan at 18+6.

The sonographer picked up tiny brain defect then they picked up lots more at Kings.

Saying that I did have very low hormone levels at my 12 weeks bloods.

Hopefully you will be the next one in that midwives career and she can say 'I've known of 2 high nt babies born healthy'

I'm sorry you're going through this OP. I had a similar experience at my 12 week scan with a very similar NT score to you, and like you a CVS put me in the clear for Downs, Edwards and Patau. However, my experience differed in other respects - at the 12 week scan the consultant identified hydrops - pockets of fluid around the baby's organs and under the skin. And my NT measurement nearly doubled when I returned to the Hospital a week later. The CVS eventually revealed that my baby had Turner Syndrome, which has an excellent postnatal prognosis, but unfortunately very few babies conceived with this anomaly survive to birth, and after a few weeks it became apparent that my baby would not be one of the ones which survived.

The consultant gave me a sheet which listed pregnancy outcomes according to NT measurement. Even in the category you fall under 15% of babies are subsequently found to have a normal chromosomal profile AND are born alive and well. Others, presumably, are born with survivable anomalies of varying degrees. So while this is a horrible situation to be in, I'd like to think it's promising that your NT measurement has shrunk a little, and that no other anomalies have yet been detected. Maybe your baby will be one of the ones born healthy, or perhaps will be found to have an anomaly which can be remedied, or which will not have too big an impact upon your baby? I am keeping my fingers crossed for you.

There are support organisations like ARC which you may find helpful, particularly if you get some concrete information back from the CVS or other tests about what is wrong with your baby.

Take care

Apologies for such a late reply and thank you for your kind messages.
I'm so sorry to hear about your situation offbeatgirl. I can't even begin to imagine what you must have been through .

So to cut a long story short(ish) we visited a geneticist at King's who told us that, despite everything coming back fine, there was only a 10% chance of everything being ok (this was after the micro-array, noonans tests & 20 week cardiac/anomaly scans coming back clear). She asked if we would consider a termination at this point but was unable to tell us what the problem/s may be.
We didn't feel we could make such a huge decision based on not a lot so made a private appointment with Professor Nicolaides for the following week. He checked the scans, reports, etc, and I explained what the geneticist had told us - His exact words were that we would be crazy to be considering a termination at this point. He agreed that, yes, we had a 10% chance at the beginning but with every test the chances had gone up & up and he is completely confident that the baby will be fine. I would recommend that anyone with similar issues gets a second opinion from him if possible - He was absolutely fantastic.

I'm obviously over the moon but I still have a niggle in the back of my mind that something will go wrong but the baby is getting bigger & stronger everyday so I'm trying to focus on that.

My heart goes out to anyone that is going/has gone through any kind of similar situation.

xxx

Wow heart what a massive difference in medical opinions! I'm glad you got to speak to prof nicolades (sp). Thank you for recommending, we have already decided that we will be booking some scans with him if we are lucky enough to get pregnant with number 3. It's really good to hear positive stories.

Hi Heart,

My little girl's NT was not quite as high as your baby's (4.4mm at 12 weeks). We too went through the CVS/cardiac scans/extra growth scans with no anomalies ever detected. Like you, the worry was always at the back of my mind.
She was born happy and healthy at 39+5 and is now a beautiful 15 month old.
Just wanted to share a positive story...I know how hard the uncertainty is. Hold onto the fact that the world leading expert in foetal medicine can find nothing wrong.
Sending you all my positive vibes for a happy outcome.

Heart, it's very good of you to post back and update us. There are so many sad stories here, so it's lovely to hear when things go better than expected! I've heard only good things about the Fetal Medicine Centre, so I'm sure you're in the best of hands. Take care

@heart2015 sorry to bring up this (very) old thread again but I'm going through something very similar at the moment and have been trawling through for others in the same boat. I wondered if you would mind sharing how your pregnancy turned out? Fingers crossed for a silver lining.

Hiya,
I know this is an old thread but I just wondered if you had any update @SianVLeo? I am in a similar situation, high NT at 13 weeks and CVS and scans have been normal. 20 weeks now but still so worried about genetic syndromes, developmental delay etc. Any advice would be so appreciated. Thanks 😊

Hi @Mel202 . Sorry you’re going through this but I’m pleased signs are looking good for you at 20 weeks!

Unfortunately for us, the 20 week scan was the turning point as it showed up a number of abnormalities that hadn’t been seen up until then. We had to make a decision to TFMR. Since, we’ve undergone genetic testing and both of us (myself and the father) carry a gene for a specific syndrome - this baby had the syndrome (25% chance of this happening).

I really hope you have a happier story. Sending lots of hugs xx

@SianVLeo I am so sorry to hear that and to have made you revisit this. I really appreciate you taking the time to reply, and wishing you all the best xx