What else can a high nuchal fold mean?

[Hayden'sMummy]

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 ( ).

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

[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

[Hayden'sMummy]

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.

[ferrals5]

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.