Thick nuchal fold at 20 week scan

[Anonymous]

I’m 35 so I already did the genetic blood testing, which showed a very low risk for Down’s syndrome. However, I had my 20week anatomy scan, and the doctor said my baby’s nuchal fold measures between 7-8mm. Doctor said worst case scenario here is a heart defect or down’s. I’ve already scheduled a fetal echocardiogram, but am unsure about the doctor’s push for an amnio. I admit that I’m afraid of the risks associated with invasive testing. I’m also aware that the amnio will only give a yes or no - with no context regarding severity. I’m mostly positive that terminating at this point is not an option for me - so I’m not sure that the amnio is worth it if it won’t change my mind about anything.

Pregnancy hormones are not helping in this situation. I’ve been a wreck since the scan and keep cycling through what if’s.

Anyone with a similar story? What steps did you take and what outcome?

[Anonymous]

Anonymous wrote:I’m 35 so I already did the genetic blood testing, which showed a very low risk for Down’s syndrome. However, I had my 20week anatomy scan, and the doctor said my baby’s nuchal fold measures between 7-8mm. Doctor said worst case scenario here is a heart defect or down’s. I’ve already scheduled a fetal echocardiogram, but am unsure about the doctor’s push for an amnio. I admit that I’m afraid of the risks associated with invasive testing. I’m also aware that the amnio will only give a yes or no - with no context regarding severity. I’m mostly positive that terminating at this point is not an option for me - so I’m not sure that the amnio is worth it if it won’t change my mind about anything.

Pregnancy hormones are not helping in this situation. I’ve been a wreck since the scan and keep cycling through what if’s.

Anyone with a similar story? What steps did you take and what outcome?

Invasive testing is not advised when it wouldn't affect the outcome anyway.

Did you have NT testing earlier? In all 3 of my pregnancies it was done prior to the anatomy scan as a separate test (combined blood test and scan).

[Anonymous]

My son had a very large nuchal fold. I had an amnio for unrelated reasons and it was negative. I did the fetal echocardiogram and it was fine. I worried a bit throughout the pregnancy and he was perfectly healthy. He did have a fat neck when he was born!

[Anonymous]

Anonymous wrote:

Anonymous wrote:I’m 35 so I already did the genetic blood testing, which showed a very low risk for Down’s syndrome. However, I had my 20week anatomy scan, and the doctor said my baby’s nuchal fold measures between 7-8mm. Doctor said worst case scenario here is a heart defect or down’s. I’ve already scheduled a fetal echocardiogram, but am unsure about the doctor’s push for an amnio. I admit that I’m afraid of the risks associated with invasive testing. I’m also aware that the amnio will only give a yes or no - with no context regarding severity. I’m mostly positive that terminating at this point is not an option for me - so I’m not sure that the amnio is worth it if it won’t change my mind about anything.

Pregnancy hormones are not helping in this situation. I’ve been a wreck since the scan and keep cycling through what if’s.

Anyone with a similar story? What steps did you take and what outcome?

Invasive testing is not advised when it wouldn't affect the outcome anyway.

Did you have NT testing earlier? In all 3 of my pregnancies it was done prior to the anatomy scan as a separate test (combined blood test and scan).

My first trimester screening showed no abnormalities.

[Anonymous]

I have no advice on whether amnio is wise for you. I did get one this week for another reason, and it was super fast and less invasive than expected. So far it seems like it went fine,
In terms of baby - fingers crossed.

Best of luck. I’m going through this uncertainly too. It’s awful.

[Anonymous]

I got two amnios around 17 weeks (2 pregnancies) and it really was no big deal. At GW the rate of miscarriage is like 1:1200. I bet everything is fine, but wouldn’t you want to be sure? I would... you are only 20 weeks... I am not sure I could go 20 weeks with this doubt

[Anonymous]

Most likely with that measurement you are fine. That being said, the amnio doesn't only test for Down syndrome. It can test for a whole host of other things if you also get the microarray done. It still doesn't test for everything, but Down syndrome is not the only issue a baby can have. The risk of miscarriage is really really low, honestly. However, if you wouldn't do anything differently it can make sense to skip it as long as you are delivering at a hospital with a good NICU, just in case. But again, that measurement isn't that large and since your NIPT was fine, everything is likely good with baby.

[Anonymous]

Ugh, sorry.
Not exactly the same situation - this was years ago before the blood test was available, just the nuchal fold scan at 13 weeks. Testing center wanted to do an amnio due to increased risk of Downs. I talked to my doctor, who said its always better to have more information (even if you wouldn't terminate for Downs) but since my test showed a pretty low risk it was also a reasonable decision not to do the amnio.

So, I would ask your doctor the same question - if you are not going to terminate, does information from the amnio help them manage your pregnancy better in any way? Is refusing it a reasonable decision or not?

[Anonymous]

I had a large Nuchal fold with my first son. I can’t remember the number anymore, but it was much bigger than normal. I had a CVS done because it was earlier and an echocardiogram. All was normal and he is now 6.