Nuchal Translucency

nthacker1

I had my 13 week ultrasound last Friday. We were devastated to hear that our baby's Nuchal Translucency was 6mm which is far above where it is supposed to be. I was told that the cause of Nuchal translucency is Down syndrome 85% of the time and then given the option of terminating my pregnancy right after I was given the heart sinking news. I am now scheduled for an amniocentesis consultation on Monday. I am terrified of the results and am wondering if anyone else has had this very emotional and confusing reading?

Ceridwen77

I'm actually quite surprised that you were offered a termination following your NT scan, as it is not a diagnostic test. I think you should discuss all of your options with your doctor.

You could move forward with a cell-free DNA test (known under brand names as Materniti21, Panorama, etc) which is non-invasive. This is a simple blood test and carries no risk, however, it is not diagnostic but statistics show it has 99% accuracy of detecting Down's syndrome.

Alternatively you could get a diagnostic test to know for sure - a CVS or amniocentesis. While there is risk of miscarriage with these procedures, it is extremely low.

Definitely consult with your doctor on what that measurement means as far as risk ratio goes and what all of your options are. Wishing you the best.

rklinge0

Is this the same as the nuchal nodle? My daughter's was never caught on ultrasound but was pretty apparent when she was born.
I was offered an abortion at 28 weeks if I would have done the testing. I declined it because of the soft markers percentages and it being 3rd trimester when they found anything abnormal. Totally up to you but just know if it is downs as long as there are no major organ defects everything will be okay. I wouldn't change her for anything and one major perk of ds babies smile a lot sooner so we have been getting lots of real smiles at 4 weeks, where most babies don't do it for a few months.

PlainJane8350

I agree with the other poster, they shouldn't have even mentioned termination without an ultrasound. They're notoriously inaccurate and have a lot of room for error. It's gonna be a long weekend, but I'd try not to worry too much and see what the amnio says. Sending you positive, calming thoughts and prayers.

kadams2468

The amnio will be your best determining factor for testing Down Syndrome. I had normal looking sonograms and normal range nuchal fold numbers. The MaterniT blood test said high chance of Down syndrome. I recently had the amnio at 16 weeks and it confirmed Down Syndrome for my baby girl. 

newfie69

I just went through the exact same. I went for my 12 week ultrasound and the nuchal fold was high. The very next day I came in for an amino. I had to wait 5 days for the results. It came back positive. The following day I had a D&C. Worst few weeks of my life but it's been 4 weeks and it does get easier. Just got my first period since and will try next month to conceive.btw- it took us 4 years to get pregnant in the first place.

rklinge0

@kadams2468 my ultrasound didn't show up with anything abnormal until the 3rd trimester. But thankfuly she is pretty healthy so that's all I can ask. Hoping everything with your little girl's organs do the same. They haven't found anything so far, correct?
I went through a little bit of mourning after we found out at birth. But I honestly know that she was sent to me for a reason.

hdtlily

I'm going through this right now too. My NT scan 2 wks ago was 6mm and I got the results back from the blood screening test yesterday and it was positive for Down's. I'm really overwhelmed at the moment. Any advice ladies?

rklinge0

It will all be okay! Trust me.
It's okay to cry and be sad. The one piece of advice is not to look into the future too much because then thats when it makes you feel worse. I had to get past the is she ever going to marry or have kids? Because right now it doesnt matter and we just don't know anyways even if she wants to. Also with the way the education system is changing lots of the kids go on to get jobs and go to technical schools.
Depending on where you live get in touch with early interventions groups and ds support groups or places. They can help answer some questions.
With ds there are varying degrees and varying health problems. Some kiddos don't have any major issues and others do.
I am not sure if you are thinking about termination but think of it this way of the chromosome issues to have 21 is definitely not a death sentence for your baby.

hdtlily

I know that DS is not the worst thing in the world, and that I just need some time to gain some perspective. I guess every new parent needs that adjustment period and that hubby and I will work through it.

rklinge0

Oh it is definitely an adjustment because you have in your head about everything your child will do. And my dh was actually stronger than I was the 1st week pp. I cried constantly. But after that things started getting better. I saw things that she was doing and seeing how much she is growing and trying to hold her head up and roll over.

hdtlily

DH is not handling it too well. His mind is going to every worse case scenario, even those years down the road. I'm still crying regularly but I'm making progress. Good hours and bad hours, I guess.

rklinge0

When we were given the possibility during my 3rd trimester my husband didn't handle it well. We were told trisomy 21, 13, 18 and dwarfism. I declined testing because the marker was less than 5 percent chance. So we had a small possibility but nothing confirmed till birth.
Right now my hubby just constantly looks at her and just says how cute she is. He also told me a week after her birth that the day she was born was the best day of his life. So I am sure when your little one is born some of those fears will melt away.

hdtlily

Thank you for telling me that. I appreciate the reassurance. I think he'll come around too. I'm only 15 wks now, so he's got some time.

cdv2015

My daughter had a significant "hygroma". They offered termination at that point with us, as well. We chose to do CVS, and daughter was diagnosed with Turner Syndrome (missing one of her x (sex) chromosomes in her cells). The statistics are very grim with TS while in utero, but she made it to delivery with a few heart defects (required surgery after birth). She is now a happy, healthy 22 month old. She isn't saying anything we can understand quite yet, but talks in her own language nonstop. It took her a little longer to crawl and walk than my oldest and she is small for her age. Other than those small issues, she is a "normal" toddler. She's not only our miracle, but our blessing.

Praying you find answers soon!

nthacker1

I just got back from my follow up with my OBGYN. I had opted for the Harmony blood test. The results were in today also. It turns out we have absolutely nothing to worry about at all. All tests came back normal with no concerns at all. I just want to put these past months behind me and finally start to prepare for our perfect baby BOY!!!! I hope everyone else is doing well

cindee92

Hello, hope I can be of help. At my 12 week scan my baby's NT measured 7.8mm.. So significantly larger than if should be.. Got told this is likely Down syndrome and was offered termination.. I went to have a scan along with cvs, where I was told it looked more like turners syndrome so was very upsetting to here. However all results came back as normal. I had further tests that test within the chromosomes for rare genetic disorders which also came back as normal. I have had scans throughout my pregnancy to keep an eye on the fluid behind the neck and at 32 weeks it had resolved itself. I am now 38 weeks. I know how hard it is but my advice is to get all the testing available as your baby may be absolutely fine. Feel free to message me if I can be of any more help x