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Nuchal Fold Thick in 2nd Trimester u/s

post #1 of 12
Thread Starter 

So what began as a great day at the Dr. ended stressful!


My partner and I opted not to have the genetic testing done because of the chance of false positives and I didn't want to be stressed out over nothing. Then came the ultrasound. At first everything looked great- the baby's size, heart rate, heart, bone length, bowels, you name it. Then the radiologist came in and said that the nuchal fold was thick 5.5mm and that we were at an increased risk for a baby with Down's Syndrome. 


She said that anything under 6mm was considered normal, but for some reason kept insisting we were "high risk." She also kept repeating that because we hadn't done any of the previous tests, she had no other way to determine risk. My partner and I really felt like she was trying to punish us for not opting in for tests. 


Many forums I have read people claim that you can't test after 13 weeks, but that is for the nuchal translucency test. This is the nuchal fold and it is different. I have also heard that the nuchal fold can change depending on  your baby's position. It seemed the head was in a good position because they kept commenting on it, but I can't be sure. I have to go back to get another one because the baby's spine wasn't in a good position. 


I have 21 weeks, so too far to have the genetic tests and an amnio has a higher risk of miscarriage than the risk of DS. There is a new test called the cell-free test that can look at the DNA of the baby and with (supposedly) 99% accuracy assess risk of DS. The cell-free test is done from a blood sample of the mother. 


So scared and don't know what to do! Anyone have a similar experience or have additional knowledge. I feel like I should go with the test because this stress of not knowing is terrible- exactly the reason I didn't chose to do the prenatal testing. 

post #2 of 12
I don't have any experience with that, but I just wanted to say hang in there and I'm sorry you're going through this!

We had some uncertainty with our u/s and it turned out fine, but that was a very stressful week, so I can understand what you're going through. I hope your follow-up turns out fine too. I don't understand why she would say its high risk when the number is in the normal range. Can you find out if there would be any other indicators that could point one way or another?

Good luck!

ETA:here are some moms who had higher numbers (7 and 9) and had healthy babies. Hth!

post #3 of 12
Thread Starter 
Thanks for the support! There are other indicators and none of them suggested anything was wrong. It was difficult to rally get an answer from the doctor. She kept saying it was her responsibility to tell us.

We met with a genetic counselor immediately after and she was really kind and reassured us that the odds were in our favor. It was nice to hear!

All the info on cell free DNA testing is medical research. It makes me a little nervous that more info isn't out there - esp. about test accuracy (they claim 99%) - but there is no risk of miscarriage as with amniocentesis. Will keep you posted!
post #4 of 12

Hang in there.  No personal advice just lots of support - and big hugs.  My SIL however did have the genetic testing done (after a thick nuchal fold finding) with her son and it came back positive for a number of different things.  To the point where the OB actually suggested they make a decision on whether or not they want to continue with the pregnancy.  Thankfully they went ahead and out came a baby boy without any genetic disorders.  He did arrive 10 weeks early which came with its own challenges and unfortunately for them she hasn't been able to maintain a pregnancy since (a number of miscarriages, she and her husband are devastated) but I'm so glad their son, who is now 6, is alive and well and thriving.   What stress for you!  Whatever you choose to do (testing or not), know that it's the right thing to do.  Hopefully all is ok and that you will be able to rest well the remainder of your pregnancy.  HUGS!

post #5 of 12

This is just my opinion so please take it as such, but I wouldn't do any more testing.  It can likely just cause more stress without giving any definitive answers.  It is very likely your baby is absolutely fine.  I have a friend who was told that the u/s showed the baby had some markers for problems because of a bigger head (or some such thing), she had tons and tons of ultrasounds, they couldn't determine anything definitive, but with each one her anxiety rose.  Finally she just said no more ultrasounds.  Her dd is a perfectly healthy 10 year old now.  With my u/s the tech couldn't get a good look at the spine either.  My mw said it was recommended I come back for another u/s in 4 weeks.  I asked what we would do with the info and the only thing (that I would be willing to do) would be to transfer to a larger facility should the u/s show a severe case of spina bifida.  It is very unlikely, and I believe more testing just leads to more worry, so I am not going back for the second u/s.  My mw said it wasn't that something was found, just that the spine couldn't be seen as well as preferred because of baby's position during the u/s.  I am completely at peace and my mw completely supported my decision.  Whatever problems or not that the baby has, he/she has.  There is nothing I can do about it.  When my child is born, no matter what, I will love the baby with my whole heart.  Worry about an inconclusive test and then going in for more inconclusive tests will just cause more worry and that is not how I want my pregnancy to be.  I want to enjoy this pregnancy; who knows if this is my last or not.  This is just my opinion.  I hope you find peace.

post #6 of 12
Originally Posted by distantstars View Post


She said that anything under 6mm was considered normal, but for some reason kept insisting we were "high risk." 




Maybe just hang on to this? Your baby's number are UNDER 6mm, just keep saying that to yourself. Hugs!!!

post #7 of 12
Thread Starter 

Thank you mamas for your support! Just got blood tests back today and they were normal! I am so happy!!! 


The testing service took 14 days to get the results back instead of the 8-10 promised days, which was long enough. After going through this experience I have learned that with my second child, I am going to go with a midwife and homebirth or midwife-hospital (which I am doing this time), but opt out of ALL genetic testing and ultrasounds. I have heard so many horror stories from my friends about things the doctors have scared the about only to learn it is nothing. 


The stress that these procedures and practices cause pregnant women, their babies, and their partners is not worth it. The same u/s technician that gave me worrisome results also gave the same to others in my group. I am now suspicious that she is making measurements full of error. 


Thank you all so much for your support. Each message meant so much to me. I was able to cope with the stress by letting go- doing yoga, spending time with friends, and believing in my baby. 

post #8 of 12

distantstars, I'm so glad you have finally gotten your results back and that they are reassuring! I've also heard recently about women being needlessly worried about some marker they saw on an u/s.  


Here's an old article from Mothering on the Risks of Ultrasound, one of which is the unnecessary anxiety it causes many mothers and fathers: http://mothering.com/pregnancy-birth/what-you-should-know-about-ultrasound.  I know there have been advances in ultrasound technology in the last 12 years, but I don't know of any study yet that's shown routine ultrasound improves outcomes for mothers or babies.

post #9 of 12
Yay! joy.gif so happy for you and your l.o. and your family!
post #10 of 12

I'm glad you got good news! Did you take the MaterniT21 test? I took one last month also because they saw something on the 20-week ultrasound that is sometimes a soft marker for a genetic abnormality (in my case an EIF, or "sparkle" on the heart). I hadn't gotten my integrated screen results back yet, so took the M21 test because we were extra anxious. I wish I had never known about the "sparkle", even though my doctor was reassuring and told us because she felt she had to. It was a frustrating couple of weeks.

post #11 of 12

So happy for you!!!! love.gif

post #12 of 12
Thread Starter 

Thank you everyone! 


Krystal1220- The test I took was called, ironically, the Harmony test. It is a blood test that looks a bits of fetal DNA in the mother's blood. It is an extremely new test that I think was approved for use in California this May. Looks like the test you took and the one I took are both cell-free DNA tests- just from different private companies. I guess the good thing is that they are more accurate than any of the screenings and less invasive and risky than CVS or amnio. 


I would take comfort in the fact that it was just one soft marker- at our last ultrasound, the radiologist told us that usually they find more than one marker in genetic abnormality cases. She didn't recommend amnio and we had a hard marker- the most frequent one. She also said there is tons of room for error in the way the images are taken and interpreted. I wish she had told us that the first time when she scared us!!! The fact they didn't recommend and amnio is another good sign. Sounds like another case of doctor's being overcautious- and they love tests!


I hope you get your results soon. To cope I did a lot of yoga and  loved my baby and reassured myself that it was healthy. I will thinking about you and sending positive energy your way. I know how terrifying the experience can be!!!

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