Thick nuchal fold? Please help (long)

SPerry0376 · September 2009

I'm hoping that somebody knows more about this than me because i'm super worried...

I'm ten weeks and went in for an ultrasound today. After all the research I have done I noticed quickly that one of our twins had a thick nuchal fold so I asked the tech. She said yes but didnt say much. After that we went and spoke to my OB and she said it did look thick and she is going to help us move are NT scan up to week eleven instead of after week thirteen so I can get a CVS if need be. She did remind me that ofcourse this isnt a for sure, just a possibility you baby could have down syndrome.

My questions are...How many of you ladies have either had this happen to you, and it either went away, or turned out the baby was healthy? (or know someone)

Or does anyone know what the actually percentage is of babies who have a thick fold actually turning out to have down syndrome? (I found one percentage stating only 5% will actually have down syndrome with a thick nuchal fold, but i'm not sure.)

and...Does it seem likely this is a false indication for me? I'm only 22 so my chances of down sydrome in a child is around 1/ 1600. As far as I know it has never been seen in my family. Just wondering what everyones thoughts are...

happytobemrs.m · September 2009

What were the results of the blood work? I am pretty sure they need both to be able to give a good determination. And you are correct, even then it is just a scan and not a definitive test. I have heard of instances where the NT scan showed down's markers but the baby was born 100% healthy.

amjra · September 2009

Here is what I know... I hope it helps, but I'm not a doctor!

A thick fold is anything OVER 2.5 mm, which by itself does not by itself indicate DS. Can instead indicate nothing, or heart problems, or ??

Nuchal fold testing only gives you a new "customized" statisical # on your chances.. like 1/300 or 1/2,000 versus your "standard" number given for your age, so it doesn't actually tell you whether baby has DS - JUST A NEW STATISTICAL chance. Just something to tell us a new chance to help us decide whether or not to have additional testing.

The NT screening model is this:

"mother's standard % chance number (based on age) * % based on NT number * % based on the blood test screening... = new customized % for DS, Trisonomy 13 & 17..."

If you have a high number in the end, you may want to get CVS, but since it is "invasive" there is a chance of m/s w/ CVS or with amnio. Both can tell you about DS w/ 100% accuracy as they actually sequence the DNA of the babies to look for the extra chromosome on 21, (& 13 & 17 etc.) So, some people just use the NT number to determine whether or not CVS is worth it.

Also, w/ your twins, you may have to have CVS done TWICE if they are not identical!

So, your OB is right, that NT number by itself is meaningless!

Melly Mel · September 2009

The scan is only 50% of the results, you need the blood work done as well. I have known someone who went through all of that and then had the amnio and her son is perfectly healthy! There are a lot of false positives out there despite the fact that they say the test is 94% accurate. Plus, I am not sure why they would take the measurements if you are only 10 weeks, isn't that still too early for that?

urbanwifey · September 2009

This was just a regular sonogram, not the NT? That's in a few weeks, right? I know it's impossible not to worry, but until you have the NT and the bloodwork and you have a ratio, you don't 'know' anything. Even after the NT you'll have to wait for the CVS results to have any difinitive info.

Sonograms themselves are a very fuzzy science.

SPerry0376 · September 2009

I didnt have an "official" NT scan today. It was a regular ultrasound and I noticed the babies cord was thick. So nobody measured it nor did any bloodwork. The Dr did confirm it was on the thick side though.

lovinfall · September 2009

Try and stay positive the odds are in your favor to have a very healthy babies. The thickness is used as a factor in determining the chances of downs and other chromosomal issues. It is just one factor and should not be used alone to determine downs.

A positive or negative result is not helpful when discussing an NT or other genetic scans. Such testing gives you the odds not a conclusive yes or no.

trendymom · September 2009

A girl I work out with was told her baby had ds, she had a thick nuchal fold and the blood work confirmed it all. she saw specialist for her babys heart b/c most ds babies have a hole in their heart. When she delivered the baby did not have ds, so this does happen.

trendymom · September 2009

...also how did you find out you were having twins so early..did you have an ultrasound early on?

eggymaye · September 2009

I had that happen to me with my last pregnancy and the baby ended up having chromosomal problems. As I understand it, the thicker the fold is, the more chance the baby has a problem. In both my and DH's family there was no history of children with downs or other chromosomal problems. That's not to say that your baby defiantly has any problem at all. I you are in your 20's the chance of having a down's baby is approx. 1:1250. After 35 it goes up dramatically (approx. 1:400), but still less than 1%. I wouldn't worry until your doctor says so.

SPerry0376 · September 2009

I have gotten weekly ultrasounds since week five. I have had alot of problems so far, and we did 2 rounds of IVF to get here. OB wanted to monitor everything closely as well as give me piece of mind because I was so terrified of M/C.

trendymom · September 2009

thats good..i was just curious...I have had this crazy feeling that I am having twins but I dont have a u/s till week 12...im sure its not though just pregnancy feelings!

Heather R · September 2009

Not quite, but they found a marker for Down Syndrome at my 20 wk. u/s with Jack-- who does NOT have Down Syndrome. Good luck to you.

Hope324 · September 2009

Hi. I don't really have any answers to your questions, but I wanted to let you know that we are going through the same situation. At our first OB appt last week, a quick u/s was done and the nuchal fold was measured for each twin. One was fine, and the other measured 3.5mm. We've scheduled a complete NT scan with bloodwork for this Wed. If this shows a problem is likely, we might consider an amnio...however, I'm very hesitant to do a twin amnio, as my OB said this would be a little riskier than a singleton amnio.

I'll post our results as we get them. I know that Inyost's post from earlier tonight gave me a big sigh of relief and hope that all will be fine. (I believe she had a 3.5mm measurement also.)

My thoughts will be with you. Good Luck & Keep us posted.

Jill

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