What else can a high nuchal fold mean?

Hi all,

For those that haven't read my blog or seen a post, DH and I went for our 12 week scan last week (at 12.5wks) and the nuchal fold measurement averaged out to 6.

Yes, incredibly high. We had CVS straight away and the results have come back all clear for any chromosomal abnormalities ( :cheer: ).

We are waiting (im)patiently for a scan at 16wks (two weeks from today) to show or rule out any cardiac defects as the Obs has indicated this is the next most likely cause of the high nuchal fold reading, now that we have ruled out chromosomal abnormalities.

So my question is this: has anyone else had a nuchal fold this high and it turned out to be something other than a cardiac problem? What else could it mean?

My Obs doesn't want to stress us out by talking about "what ifs" but I need some more info and for once google is not accommodating. What else could it be?

hi there
sorry i dont have any answers but notice you didnt have any posts so thought i would put you back to the front lol.
I hope everything works out fine good luck :)

Thanks Krissy :)

Can anyone help????

Surely someone else has had a similar experience... I can't be the first... :(

Hi OceanPrincess,

It's frustrating when no-one posts. I've been there. Just remember that the NT told is an indication that something could be wrong, it's not a diagnosis so it could mean absolutely nothing.

My bubs NT measurement was 4.2 so not as high as yours but quite a bit higher than it should have been. We were given a 1/37 risk of DS, the risk of the other trisomies were low. No abnormalities were found in our amnio and no abnormalities were ever seen in any of our scans. Brock was born 9 weeks ago and did not have DS nor any other detectable abnormalities, so completely "normal". I don't think I ever really believed that this was going to be the outcome until he was in my arms.

The next couple of weeks while you wait for a scan are going to be hard. Try to keep yourself as busy as possible so you don't have much time to think about the possibility of a bad outcome. More than likely everything will be fine when you have the scan done. It's quite normal for the doctor not to want to discuss the what if's. My doc was like that too, and continued to be like that when other issues came up later on that were unrelated to abnormalities. Best of luck with the scan.

OP
i wish i could give you a story to help you , but i cant
I did read however that 90% of NFold tests can give a false positive.
There has been lots of research done in Britain about the technique and the stress it unncessarily puts parents to be under and how 90 % of those that got a postitive, ended up with healthy babies.

There was a heartbreaking story in the Womans Weekly last month on a 60 minutes reporter who got a high NF test. It then gave these stats that i have quoted. Its point was the risk of having an amino/CV against the risk of the test being wrong!
Hang in there, i have a feeling in my 'waters' that all will be good!

take care and give you belly a rub for me!
odette

Hey OP,

With dd, the NF came back at 6, like yours. We were 1/19 of downs and 1/30 of trisomy 18. After the cvs, the results came back all clear. When DD was born, all we noticed was that she had a thick neck, which in time looked normal!!! She doesnt have any problems, besides her hip dysplasia...obviously not related to NT! We had genetic councelling and were only told it indicated risks of chromasomal abnormalities. HTH and good luck.

Luv Melissa

Thanks all for your responses, I really appreciate it.

Only a week and a half to wait now. :rolleyes:

Hi all

I am new to this forum - I have just posted in the "due Feb 16-28 2009" thread - but this thread is what has inspired me to post.

Like OceanPrincess, I had a high NF measurement (6.1) and subsequent CVS, with no sign of genetic issues. I also have twins. The initial NF US showed one looked great (low NF), while the other is/was a bit small and had the high NF. I am waiting on the 16 weeks US too, to see if they can detect cardiac issues, or maybe twin-to-twin transfusion syndrome.

Has anyone else come across any other possiblities? I hope all is well, but I was given a bit of the "ONE baby may be OK, but the other one is stuffed" at the initial scan which I haven't really recovered from...

My fingers are crossed for you OceanPrincess, and I'd love to hear how you go...

my wife and i have been through this TWICE... first with our 2nd daughter who measured 5.9mm at 12 weeks and came out just fine (she just turned 3 and is quite normal) after a barrage of tests and odd attempts at explanation. but we still believe in the science of it and had the fold measured when my wife got preganant with our 3rd...lo and behold the measurement came back 6.1mm! same battery of tests to be sure, cvs to rule out chromosomal abnormality, lots of very precise ultrasounds (we live in los angeles and have access to some of the best ultrasound 'artists' around) fetal ekgs, genetic testing etc. our son was born feb 5th and, again, he's quite normal. i'd even say both of them are pretty exceptional, but then again they're my kids.

when we first got the high measurement on my daughter almost 4 years ago, the method was somewhat new and there was nothing but bad news on the boards when i went on. but my wife was, is, patient, trusted the science and the idea that THE MEASUREMENT ISN'T A DIAGNOSIS, JUST A SIGN THAT SOMETHING MIGHT BE ABNORMAL. so we stuck it out both times (the second time feeling only a bit less nervous) and got two great kids out of it. i hope all your results come back positive and you have the same luck we have. but it can happen.

as for why the measurements were so high in both of my kids, i'd love an answer too!

Hi
My neice had a very high result for this test. She was told there was definately something wrong with her baby and she should consider termination. She had further tests that were inconclusive but decided to keep the baby.Turned out that he was perfectly normal.I don't think these tests are all they are cracked up to be!
Regards
LisaB.

I am sorry that I didn't see this thread - it is easy to miss threads sometimes - I am sorry Ocean Princess it is frustrating when you don't get replies... :hug:

I am hoping that your u/s results have been okay? :hug:

Higher than "normal" nuchal fold measurements can be an indicator of chromosomal abnormalities - in the event of "normal" karotyping this can be ruled out.
It also can indicate cardiac problems and due to this babies are monitored closely by u/s.

Sometimes babies just have a big nuchal fold for no reason - just is as it is. I have seen this many many times too. It is just one of the pointers (a big one) to chromosomal abnormalities and as such should not be overlooked or discounted.

lmbmbc: It is inappropriate and I cannot quite digest that your niece would have been offered a termination based on nuchal fold measurement. If a low ratio is returned women are offered invasive testing - either or both cvs and amniocentesis. Nuchal Translucency is a SCREENING test it is not a diagnostic test and as such practices will not offer pregnancy interrruption without definitive diagnosis...

Thanks Flowerchild, I was looking for something that didn't really exist I guess... as we kept ruling out options (its not this, its not that) I was wondering what it could still be.

I can answer my own question now - it can also be a cystic hygroma, where the drainage system at the back of the neck doesn't develop in time with the rest of the baby and as a result fluid can build up. Looks like this is what it is with my little bubba - it will either resolve itself in utero (by catching up with the rest of the development) or she might be born with a little cyst at the back of her neck.

Either way is fine with me - not critical, not life threatening, apparently if she's born with it we might not even notice it.

Such stress, for such a trivial thing :rolleyes:

I had a high nuchal scan measurement when I was pregnant (5.3). They rushed us into another room for genetic counseling. We were so scared. We decided to get the CVS testing. When I did it, they used the needle and I had some renowned specialist from Canada do it. He said he had difficulty piercing my cervix to get the cells. If I had to do it all over again, I would have waited and done the amnio (there was not another method for doing the CVS at the time). The genetic screening came back just fine (no abnormalities), so we rejoiced and tried to stay positive the rest of my pregnancy. Our son was born on time and was very healthy. About 3 weeks later, we discovered he was deaf. It was very difficult for us at first. I don't know that a higher nuchal scan was what happened in our case. I do have a friend who has a deaf child and she had a high nuchal scan as well. HOWEVER, there are also other moms that have deaf children who had normal nuchal scans. For me, I just felt like something was amiss when the doctor put that needle in me, everything felt wrong about it. I would never have that done again.
I do agree with what many have said on this board - that you have to try and not stress about it, as hard as that may be. I guess that I just discovered that even though I experienced a lot of heartache initially, I came to realize that my child is still perfect. He is doing so well that at 3 years of age he speaks perfectly, reads, and has the vocabulary of a 7 year old. You would never even know he was deaf. But whether you could tell he is deaf or not, I don't care. He is the most amazing and beautiful boy and I am grateful for every minute that he has been in my life.
Best wishes and hugs to you!

hi, this is my first post. I had my 12 week scan on Monday, picked it up from the imaging centre to take to the midwife the next day so no-one explained anything to me, figured out how bad it was myself.
Nuchal fold was 3.6 and highly suspicious of downs. Hydrops also observed (this is a build up a fluid in two or more fetal compartments - for us around the head and abdomen) When we saw the midwife she said everything was fine, and was asking if we want to do birth classes (all the trivial stuff) etc, I explained that we were high risk for downs from the scan result and didn't know what was going to happen. If it hadn't been for me sobbing I don't think she would have done anything...She sent us to see Genetic counsellor and we waited for the combined blood test screening result. That put us at
1 in 53 risk for downs as PAPa and Hcg were low.
She scheduled me in for a CVS yesterday (yuk!) and scan again showed excessive hydrops along with cystic hydroma and all very dire. We assumed there would be downs/turners but FISH has come back clear. Now going to hosp again on Wed for BT to check for infections and listen to heart. They're not sure why the hydrops is there but it has a very high mortality rate and we're not very optimistic.
Anyone had hydrops before???

just as an update to my previous message, we had 3.6 nucchal at 12wk, it's all normal now at 16wks, so it can change and can be of no consequence.

Hi Boronia,

Good to hear the measurement has decreased.
I had a NT scan last week and returned a risk of 1 in 8 for Downs, so had CVS & so far all ok, but nervously awaiting the US.

What has happened with you? Did the scan's/ tests come back ok?

:

---

Hi all,

For those that haven't read my blog or seen a post, DH and I went for our 12 week scan last week (at 12.5wks) and the nuchal fold measurement averaged out to 6.

Yes, incredibly high. We had CVS straight away and the results have come back all clear for any chromosomal abnormalities ( :cheer: ).

We are waiting (im)patiently for a scan at 16wks (two weeks from today) to show or rule out any cardiac defects as the Obs has indicated this is the next most likely cause of the high nuchal fold reading, now that we have ruled out chromosomal abnormalities.

So my question is this: has anyone else had a nuchal fold this high and it turned out to be something other than a cardiac problem? What else could it mean?

My Obs doesn't want to stress us out by talking about "what ifs" but I need some more info and for once google is not accommodating. What else could it be?

---

I am going through a similar problem at the moment where my nuchal thickness was 4.2. I have been told I have a 1 in 34 chance but a friend that works for an ultrasound place said she thinks it would be more a 1 in 8 chance. Can you please tell me what your risk assessment was and whether or not your bloods were normal or abnormal.
Thanks

Hi Hayden's Mummy,

It is very scary when you are told this especially if you didn'y have any othr problems with any of your other kids!
We also had a high risk Nuchal Fold (1 in 8 chance of having Downs etc).
We had the CVS, and all came back ok, then, we had the 16 weeks scan and he looked fine, and the 20 week scan and his heart etc still looked fine. We are still having scan's every 4 weeks but all seems ok so far.
Just because you have a high rish Nuchal doesn't mean there is DEFINATELY something wrong although it tears you're world apart at the time.
You will probably find out all is ok, I wish you all the best!
Kirstday

:

---

Hi Hayden's Mummy,

It is very scary when you are told this especially if you didn'y have any othr problems with any of your other kids!
We also had a high risk Nuchal Fold (1 in 8 chance of having Downs etc).
We had the CVS, and all came back ok, then, we had the 16 weeks scan and he looked fine, and the 20 week scan and his heart etc still looked fine. We are still having scan's every 4 weeks but all seems ok so far.
Just because you have a high rish Nuchal doesn't mean there is DEFINATELY something wrong although it tears you're world apart at the time.
You will probably find out all is ok, I wish you all the best!
Kirstday

---

Thanks Kirstday. Yes it is scary very scary and not a stress you want early in pregnancy either. I had another scan on Friday and the nuchal is still high however the hospital measured it to be 3.9 rather than 4.2 not a huge difference but a difference all the same. I was watching the measurement as they measured it several times one measurement was as low as 3.4 but they said they had to go with 3.9 which I understand. They said from early views bubs looks god, great h/r, moving a lot and has a nasal bone. But as they said I have a high NT so my risk remains the same. What was your Nuchal if you don't mind me asking. Do you know what your bloods were were they abnormal too. I think that is what scares me most if both are abnormal does that mean bubs definitely has issues.

My outcome was not so good our 12 week NT scan showed the nuchal fold at 4.8mm and with our low papA we were given a 1 in 2 chance of DS we had a cvs which came back all clear but our 16 week scan showed the baby was small and so after many u/s and an amnio (also all clear) they finally detected hand and feet abnormalities and major heart abnormalities the professor at the fetal medicine unit said the baby was not viable with life.

It turned out after her autopsy she had smith lemli opitz syndrome and my DH and i are carriers for it and we have a 1 in 4 chance of every baby we have being affected cvs and amnio tests or FISH testing only test for commom chromosnes they do not test for genetic abnormalities so will not detect it unless you have had previous genetic testing and they know which of the 5000+genes they are looking for to find the fault my DH and i under went 4 months of genetic testing for them to isolate the exact gene that caused this abnormality and now when we have a cvs they can look for it.

I would like to add that the nuchal fold test is just a marker for thousands of potential genetic and chromosonal problems it is not always correct (thank god) but a cvs and amnio dont rule out a problem with a baby it is not possible to test for every condition that can effect humans and after joining a group for people who have lost babies due to genetic conditions i relised there is a lot out there people just dont know about and i for one will have every test available to make sure i bring a healthy baby into this world i don't want to worry women but i want you to know the facts as i went into our NT scan and cvs without knowing they only test for a very limited amount of things
I am pregnant now and waiting to have a cvs in 7 weeks to look at this babies DHC7 gene which will tell us if this baby has smith lemli opitz or not.