High nuchal translucency - causes

[FindingNemoandDory]

Have posted in pregnancy too and poster kindly suggested here

4mm nuchal fold seen today at 11+6 ultrasound and got NHS dating scan later in week. Harmony tests hopefully back Fri-Mon

If NIPT is good, does anybody know chances of heart defect or rare disorder? Already considering full amniocentesis if NHS will offer it and so afraid of something terrible

Can there be benign causes? I have a virus at the moment and have flown recently

Thank you

[Iwillbemrsminty]

Just wanted to offer a positive story OP. I have 8 month old twins and my little boy twin had a nuchal measurement at 12 weeks of 6.1mm which gave the combined screening risk of 1:14 for Down Syndrome and 1:28 for the other two syndromes. We had the Iona NIPT done which came back as very low risk for all three. For other reasons I had amniocentesis done at 29 weeks which also came back all clear. Both babies are fine and there's nothing wrong with either of them. Sometimes it can just be one of those things. I hope it is for you too op. Stay positive!

[thisgirlrides]

When I had ds2, I too had high nuchal reading of 5.8 and combined results of 1:14 & 1:9 and I remember feelings not gutted (especially compared to ds1 who was in the tens of thousands). Further test was inconclusive so I had a cvs which ruled out chromosomal abnormalities but not heart defect so I was monitored regularly until birth and he appeared without a thing wrong with him . It is stressful and I really feel for you but please don't forget the test is just giving risk factors not definitive answers.

[FindingNemoandDory]

Thank you both. I have been hearing positive stories. It would be wonderful if there were know benign explanations too that we could cling to rather than the not knowing and hoping!

[Iwillbemrsminty]

Op just wondered how you are getting on, did you get your results back? X

[FindingNemoandDory]

Iwillbemrsminty thank you for your message! CVS array has come back normal which is great news, we have fetal cardiac scan in a couple of weeks. I know there is still an association with genetic syndromes and am still really worried, but taking it one scan/test at a time! Trying to look it as we're lucky baby keeps being checked up on to give us the best chance for them

[Iwillbemrsminty]

Fantastic news op!! Brilliant. I had the fetal cardiac scan too, it wasn’t what I imagined at all - I had visions of being wired up to all these monitors etc but it was just an ultrasound scan same as what I was used to but the consultant basically zoomed in on the heart etc and had a very detailed look. It was fine, please don’t worry about that. Nothing abnormal was found at ours, fingers crossed yours is the same. Day to day and scan to scan is the best way forward in my experience, and yes totally agree with that way of looking at it. Baby is being looked after extremely well and checked on so that is very good keep us posted, going to keep checking back for updates for you. Good luck xx

[Newmummytobe26]

Morning, we have had a very traumatic few days. Had our 12 week scan last Wednesday and sadly our baby has a nuchal measurement of 5.6. We had our cvs test done there and then. After an awful 48hoir wait of many tears and sleepless nights our initial test came back clear for the three main chromosome abnormalities. We now have to wait until the second test results come back. I am an emotional mess and utterly heartbroken. I have no idea what to expect. Our doctor said the initial scan all looked healthy other than the fluid behind baby's neck. I don't know what to think or expect. Any advice or experience would be greatly appreciated. I feel so alone.
Thank you

[Iwillbemrsminty]

Hello @Newmummytobe26 so sorry to hear you're having a tough time as well with baby. Fantastic news that you've got the initial results through clear though, that's very positive. How long do you have to wait for the next results? The waiting is just the worst isn't it. As you may have read from the posts above, it can sometimes be one of those things that you may never have an explanation for as it was with us. My son apparently just had a fat neck! And he still does. Keep talking to your partner, it's good to talk. I'm keeping everything crossed for you. Do come and back to update us

[Newmummytobe26]

Thank you for your comment, how did your pregnancy go? Did your son have a high nuchal? I'm so scared one minute I'm fine the next I'm sobbing and can't see any positive. X

[Iwillbemrsminty]

Hi. He did, it was 6.1mm. He had a risk ratio of 1:14 for DS and 1:28 for the other two syndromes. He also had a few other issues too and it was suggested at one point that selective reduction may be best option (I had twins) we were scanned twice weekly at fetal medicine. His twins sister had no issues at all and her risk ratio was 1:28000 so very low compared to very high. Yes all was fine, they are 11 months now and nothing wrong with either of them. Hopefully that will give you some positive thoughts. You'll get through this, the good news is the first results came back clear. Please try to stay positive xx

[Newmummytobe26]

Wow that's amazing I'm so happy for you. Such a positive story and definitely helps relax me a little. I'm praying I have a similar outcome x

[Iwillbemrsminty]

I know how hard it is, it is devastating and just not how it should be. We went from being told we had twins in there to prepare yourself for twin 2 maybe not being alive at the next scan, all in one appt, the 12 week scan (first scan we had). Hoping you get good news, when do you expect to get your results? I googled everything during the wait and it was the worst thing to do, so if you are doing, please try and stop. It won't change anything. Do concentrate on your good news so far xx

[Newmummytobe26]

It's been 7days so far. They said two weeks but I don't know wether to call them around day 10 or not incase they came back early. I told myself I'd stay of the internet but I can't! It's so hard I want all the possible scenarios even though I know they will not effect my outcome. Xx

[Newmummytobe26]

Just wanted to update you ladies, we had our full cvs results back today and they were clear! I cried on the phone to the midwife! I'm so relieved I even went out and bought the baby their first little vests. I am over the moon. We still have some extra scans to check little bubba is growing well and healthy but I actually feel I can enjoy being pregnant now! Thank you for your support xxx