Anyone get elevated risk on neucal fold test?

[yoganut]

I am 13w pg with #2 - and 31 yo. My first pregnancy was normal/uneventful, and we don't have a history of down's or other chromosomal abnormalities.

I didn't even know about the neucal fold/BUN test with my son, but was offered the test by my new ob with #2. We went in last Thursday, and the doctor said that the neucal fold was a little thicker than they would like to see. He said it wasn't 'abnormal' but it did elevate my risk for a down's baby - and that we should wait until the blood work came back.

I got the call today and the combination of neucal fold measurement and bloodwork put me at 1/230 chance of Down's. Apparently at my age you start around 1/400, and then after the measurement I was at a 1/167 risk. So, the bloodwork actually helped me and brought me down to 1/230.

My doctor recommends that I go ahead and get the amnio, for peace of mind. I think I am going to do it, and while my chances for Down's are still low, my mind is racing thinking about whether I will hit that genetic lottery. In talking with my ob, she said that the neucal fold measurement is actually the more reliable test...which makes me more concerned.

Now I have to wait until the end of July for the test, and another week or 2 for results. I won't know if we are in the clear for an entire month. :(

Does anyone have experience with this test and elevated risk results? I don't know a lot about the test because we didnt' have it last time around - and would love to know if others have dealt with this scary process.

[maggieb]

I don't have any knowledge about the neuchal test, but wanted to say hi to you, yoganut, and offer my support. A friend of mine just had the ntt done recently too and haf elevated risks, but decided against the amnio. I think she quoted her results as 1/141.

I'll be thinking about you.

Maggie

ps...Helena says hi to her birthday buddy. :D

[Ole Miss Bride]

Yoga, I know this must be very scary for you. FWIW, I'm scheduled for an amnio next Thursday to determine if our baby is affected by a genetic condition my husband carries. I will be exactly 15 weeks.

You're 13 weeks right now? Why do you have to wait until the end of July for your amnio? Many MFM specialists will perform an amnio as early as 14.5 weeks, and most will do one at 15, I thought. If you decide on the amnio, you might want to look into seeing if you can schedule it sooner.

Also, and I hate to be the bearer of bad news, but it actually takes 2-3 weeks for amnio results to return, not 1-2. I know.....it sucks.

Thinking of you.

-Betsy

[yoganut]

maggie - Thanks for the support...its nice to 'see' a familiar face. (Rowan says hi too!) Hope you are feeling good - Marisa will be here so soon!

Ole Miss Bride - Thanks for stopping in. I remembered that you were having the amnio soon, but couldn't remember when. I hope it goes perfectly, and that things look good. BTW, are you going to have some more BEAUTIFUL u/s shots soon?

I am not quite sure why they say 16 weeks. Both the genetic counselor and scheduler were adament about it though. They said that the dr takes care of most of the structural u/s at that time though, to see if there are any other markers for Down syndrome. Maybe this is just the way he does it. I am booked for 7/22 (its a Friday so I will have the weekend for bed rest).

The waiting game is going to kill me though...I wish I could step into a time warp and be done with it. I had a good cry on the way home from work. OK, need to think happy thoughts. ;)

[Soulmate]

I don't know if she is coming over here but I remember Renrel testing positive for that test. She struggled a lot about whether or not to terminate the pregnancy and went through all the genetic testing. Her baby (prolly around 2ish now) is very happy and healthy with no problems.

[LeighW]

I had an elevated risk on the nuchal fold test. I had the opposite situation--my risk based on the measurement alone was good (1:800 or something), but the bloodwork component brought my risk up to 1:205. (I was 39 at the time, and my risk based on age alone was 1:100, so it was an improvement, although still high-risk.)

They didn't find any soft markers during my Level II u/s, and so I declined an amnio. My DD was (and is) fine.

My ob also said that the physical measurement was the most important part of the test--sorry, not exactly what you want to hear. However, even at 1/167, your risk is not much more elevated than mine was.

FWIW, I hang out on another message board with a bunch of 35+ moms. There are regularly risk factors of 1:25 and even 1:10 for Down Syndrome. All the babies born in 3+ years have been normal. The only baby with Down Sydrome I know of (an IRL friend of my SIL) scored way over the cut-off on the physical measurement. I can't remember what the cut-off is any longer, but this measurement was well above it.

I think you are wise to have the amnio. If I had it to do over again, I would have one. I spent the latter part of my pregnancy worrying myself sick--it would have been better just to have had the test and been done with it.

I'm so sorry you have to suffer through this. I remember clearly how horrible it was. Your odds of having a healthy baby are well over 99%. I hope you can focus on that. (99% odds of anything are so good--we would all take 99% odds of: successs on a new job, winning the lottery, etc. But, in the prenatal world, they manage to turn 99.5% odds around and say, well, your risk of [something bad] is 1/240, and we understandably get freaked out. It's insane.)

BTW, some labs offer FISH results on an amnio--it costs a few hundred dollars extra, but you can have the Down Syndrome results in a few days instead of 2 weeks. You can ask if the fast results are available from your lab.

Good luck. Please e-mail me if I can answer any questions or help you in any way. Take care.

[shortcake]

Hi Yoga! I just got the results from my NT test today. Just like you, I wan't offered this for Gabrielle, and now that I've had it I'm a bit confused. Of course by now you have way more information...I was what happened with the amnio?? I hope all was well. I'm worrying a little - but trying to keep it in check as the nuchal fold was 1.9 (at around 12 weeks) which the doc said was slightly thick but not worrisome and to wait for the bloodwork. Man, waiting is hard!

[yoganut]

Hi shortcake! First, congrats on your pg!

My situation (as you read) was similar. The thickness was a bit more than what they would have liked to see, but I got the sense that the blood work on its own would have been fine. I think based on thickness alone I was at a 1/167, and the risk dropped because the bloodwork looked pretty good...but the combined result was still higher than they would have liked to see. My ob is pretty conservative, so she recommended that I get the amnio - and I am also the type of person that 'needs to know.'

The amnio honestly wasn't that bad - and the level 2 u/s they did during the amnio looked great, so when I left the procedure I was feeling better about things. I really hope that you don't have to go through all this stuff, but know that if you do the 'false positive' rate is apparently really high.

I kind of wonder now if we had a bigger NT thickness because of this baby's size - according to the perintologist, he is on track to be 9-10 lbs at birth (measuring 3.5 weeks ahead). Who knows? Take care and keep me posted on the testing. Feel free to PM me with any questions.

[aprilbride03]

BUMP!

Just had my nuchal done and showed increased risk. I think the measurement was 2.95 at 12 weeks.
We will do an amnio in a couple of weeks.
Anyone else have a similar experience?
The wait for the amnio is going to be HARD.

[pg_jess]

AprilBride - I don't know if you're still around/reading, but I wanted to say I just had my nuchal yesterday and my measurement is 3.8 mm and 13.5 weeks.

I'm waiting for the amnio until at least 16 weeks and possibly longer. The perinatologist said the risk of miscarriage from the amnio drops significantly the longer you wait.

In the meantime we will have another ultrasound at 17 weeks and an ECG (echo cardiogram of baby's heart) at 21 weeks.

I'm feeling quite lost and wish I could find a good resource/message board for people going through what we are going through.

[aprilbride03]

Yep...still around!
I am also waiting until I am 16 weeks(I will be the second week of Dec.) to have my amnio. My OB is actually going to do it. While the amnio scares me quite a bit I was reassured when my OB said that the risk of miscarriage is actually lower than is published in a lot of places bc the data is so old. Meaning, studies on miscarriage rates for amnios were from many years ago before they had ultrasound. So, while I am definitely nervous about it I am not as concerned as I was before and really would like some answers regarding my baby's health.

I am trying to stay optimistic in knowing that a larger than average nuchal measurement it not a guarantee that a problem exists(or so I have been told by the genetics counselor) and sincerely hope that is the case with us.

ETA: Have they calculated your risk with the blood work they have done? That may give you some more information.

[pg_jess]

The perinatologist I saw yesterday didn't do any bloodwork. My regular OB has, but I don't think they screened for genetic stuff.

It's interesting that your OB can do the amnio. I don't know if mine does or not. Because of the holiday, they closed early today. I plan to call next week to schedule an appointment with my OB just to talk about the results of the NT scan.

I was disappointed that we didn't get to talk to a genetics counselor yesterday at our appointment, just the perinatologist. I felt like she was very doomsday with us and basically said we were guaranteed to have a baby with abnormalities. In reading stuff today, I see that isn't always the case. It's all so very confusing and there's so much information it's overwhelming.

It looks like we'll be doing our amnio on Dec. 22nd.

[aprilbride03]

Although we didnt get to speak to the genetics counselor right after the nuchal, we called her the next morning. You might want to try to reach the counselor in addition to you OB. Ours has been very helpful to us.

I know what you mean about the amount of info. on the internet on nuchals. I have stopped looking to save my sanity. I was making myself crazy.

About the bloodwork, it was done right before the nuchal. A few days later the genetics counselor called and told me the results from that along with the nuchal measurement and was able to give me my odds of DS, Turners, etc. It is only odds, so nothing definitive of course but it gave me some reassurance.

[pg_jess]

We scheduled our appointment with my OB for next week. I'm going out of town for work Fri-Wed. I'm anxious to talk to him and see what he says about the results.

Your amnio is coming up soon, right? Are you nervous? I'm torn between wanting to read more about it so I know what it's like and not wanting to know anything/scare myself.

[aprilbride03]

Yes, mine is next week. Starting to get a little nervous. Nerves are also made a little worse about the whole thing since my DH won't be there in the procedure room with me(he will be watching DD in waiting room) as we had planned. I keep telling myself it should be fairly quick.
I will not allow myself to look at any more info regarding amnios. I am D-O-N-E researching.
I will come back and post afterwards. I certainly can't wait to have it behind me.