F/U: Elevated Nuchal Translucency

Aprilynn0206

Yesterday I posted about our growth ultrasound turning into a scare about the babies "prominent nuchal translucency."

 We were told the baby was measuring about 2.8 and that my Dr. may order additional testing. She did, so this morning we went for first tri screening. It took the girl who was training, the real tech that was observing her, AND the actual Dr. to get the measurements from our difficult child. LO #2 wouldn't cooperate and move into position. So finally the Dr. was able to get what he needed and informed us that we were actually measuring at 3.2- Eeek!

 They immediately sent me for blood work and then we went to see a genetic counselor after. We were given our options and decided to skip the invasive testing and just rush the results of my blood work. This was done in case I wanted to have them perform the CVS. Today was the LAST day they could do it based on how far along I am.

I got the call around 2:45pm telling me the odds of the baby having Downs were:

Based on my age: 1/600ish

Based on my bloodwork & ultrasound results: 1/170

 

And that anything above 1/230 was considered negative, therefore we were considered high risk. DH seems to think the odds are pretty good but, I of course needed to ask the ladies on the Bump if anybody could relate. Sick. I know this is just a screening- nothing for sure but I'm worried. Can anybody relate?

ballmom

I can't speak for myself, but I do know of other women who post on another board I visit that had elevated odds and they chose to do a level II scan first.

Try not to stress yourself out too much. And good luck with whatever you decide to do!

pixieprincss

I cannot relate to a risk of DS, but we were at 1:160 for an NTD based on bloodwork. We declined the amnio (the option when you are too late for a CVS) and waited to see what our level-2 u/s showed. For us, we decided that we would try to cope with the emotion of not having answers until I was far enough for the level-2 because the risks of the amnio really bothered us. But, had I not been able to cope with the uncertainty, the amnio was still on the table as an option for us.

 After our level-2 the genetic counselor moved our NDT risk factor to 1:1600. We showed one soft marker for DS at that appt (an echogenic cardiac focus) but is also common in healthy babies. We found out just last weekend that it has resolved itself. So, we are moving forward in confidence that LO will be just fine.

While it is very hard to have any sort of increased factor, 1:170 means that 169 moms with the same results will go home with a baby that is not impacted and 1 will go home with a baby that is. So, statistically it is still a very favorable result. And with DS there is a spectrum of how impacted that 1 child might be, so even with a 100% DS diagnosis there still is a lot of hope for a child to live a rich life.

So, in positive-land: this is still quite good news. In emotional land: it is really tough news to process (at least it was for me). I wish you peace as you process your next steps and I hope your LO is totally healthy.

laura&dan05

I think you still have really great odds of having a perfectly healthy baby!  If you want answers you can always do the amnio once you are a bit further along. ** I'll share my story about having a high NT measurement but as fair warning it doesn't have a happy ending so you may not want to read it.**

With my last pregnancy my NT measurement was 4.3.  They told me the bloodwork wasn't necessary because the measurement was so high the results wouldn't change.  When we met with the genetic counselors our odds were 1:3 of having a baby with a genetic defect.  We did opt for the CVS (not an easy decision because it comes with a 1:100 risk of m/c). The results came back positive for trisomy 18.

Right after the CVS I had an hour long u/s where they discovered other visable defects along with a "slow" heartrate.  We knew the odds were stacked against us and that our sweet boy didn't have long. 

As you can see my odds were MUCH higher than the odds you were given and the NT measurement was larger as well.  I hope that you can enjoy this pregnancy and not worry too much!

 

 

babyblues314

I personally would wait for the level II ultrasound.  My 16wk blood work came back high for Trisomy 18.  My risk based on my blood work was 1/28! I was in total shock.  I was sent to a high risk doc and he did an ultrasound.  I already knew going in that I didn't want to risk and amnio.  The Dr was so confident that baby look healthy, it totally calmed my nerves. 

jbd1020

I am sorry that you're going through this. I am too so I know how much it sucks. My baby's NT came back between 2.4 and 2.7mm @ 11w3d. After bloodwork, DS risk came back 1:59 (they used the 2.7mm for calculation). My labs weren't too bad though - PAPP-A was 1.23 (really good) and hCG was 1.79 (a little elevated but not crazy high). This website has a program for you to enter your values...my risk from the site is better than what I was told, and changes a lot depending on what NT is entered. Not sure what to believe anymore but I do know that baby's neck position can influence the size of the NT and when you're talking about differences of tenths of millimeters, there's a chance for user error when measuring too. We have chosen to wait for a level 2 ultrasound (3 more weeks!) to see if there are any abnormalities or soft markers seen. 

Hope everything works out well for you!!

penguin-kisses

Based on my ultrasound measurements (Nuchal fold was measuring 3.5mm) I was given a chance of 1:28 or Down's. My original tech was having trouble getting the measurement and called in her department supervisor person to give it a shot so they could finally get the right measurements, so I can't help but wonder if the results were necessarily accurate since baby was moving around a lot and wasn't in the right position and all those factors since it's such a difficult measurement to grab.

I had an amnio last week and I'm still a couple weeks away from getting the results.

Aside from the amnio I had no blood tests to go with my ultrasound so my odds are based strictly on the measurement - I also wasn't told of any markers spotted so I'm trying to stay optimistic. It's hard.

Scout05

laura&dan05:

I think you still have really great odds of having a perfectly healthy baby!  If you want answers you can always do the amnio once you are a bit further along. ** I'll share my story about having a high NT measurement but as fair warning it doesn't have a happy ending so you may not want to read it.**

With my last pregnancy my NT measurement was 4.3.  They told me the bloodwork wasn't necessary because the measurement was so high the results wouldn't change.  When we met with the genetic counselors our odds were 1:3 of having a baby with a genetic defect.  We did opt for the CVS (not an easy decision because it comes with a 1:100 risk of m/c). The results came back positive for trisomy 18.

Right after the CVS I had an hour long u/s where they discovered other visable defects along with a "slow" heartrate.  We knew the odds were stacked against us and that our sweet boy didn't have long. 

As you can see my odds were MUCH higher than the odds you were given and the NT measurement was larger as well.  I hope that you can enjoy this pregnancy and not worry too much!

 

 

I am so, so sorry for your loss. We lost our little boy to Trisomy 16 last October. I hope all continues to go well for you with this pregnancy.

SittinUnderAPalmTree

I can totally relate.  Back in June, when I had my NT scan, the results came back with a nuchal measurement of 2.9 and the ultrasound showed an absence of the nasal bone, which is a marker for Down's.  We saw a genetic counselor and were given a 1:21 chance of Down's.  My husband and I decided to go for further testing, but I was too late for CVS and  I had to wait 2.5 weeks before I could have Amnio.  We got the preliminary results of the Amnio after 2 days and the full results after 2 weeks... luckily, our little girl is going to be just fine.  The last time that I met with my high-risk doctor, he actually apologized for "having to stick me with huge needle" because our baby looks super healthy.  

Good luck to you! I am sure that everything will turn out just fine!  

st.augbride

I just went through this...so sorry you have to deal with it as well. It was very scary and stressful. We never had the NT scan, but had integrated first and second tri bloodwork. Our risk for Down Syndrome came back at 1/110. We waited to have the level II u/s to see what it showed (though 50% of down syndrome babies show no signs on the scan). Our scan showed that our babies femurs and humeri were about a week behind the rest of the body (a "soft" marker). After many sleepless and stress-filled nights, we decided to opt for the amnio for our peace of mind and to be able to prepare for whatever scenario was to come. It has a lower risk of miscarriage rate than CVS, but you need to be at least 15 weeks I believe. They also do a preliminary test with the amniotic fluid called the FISH test, which gives results that are 95%+ accurate in two days (full results take two weeks). Our FISH results came back negative. We are still a week away from final results, but we are really glad we did this test. I honestly almost wish we never did the screening in the first place. The number of false positives is so incredibly high since the tests are designed to catch anyone who might have down syndrome, but along with it catch many who don't. If you do decide to do the cvs or amnio, just be sure to ask your doctor about their track record--how many they do per week and have done total, and how many losses or bad outcomes they've had. Our doctor had never had a loss and did about 2/week for the last several years. Some recent studies show the risk of miscarriage of an amnio in an experienced facility can be as low as 1/1600, though they tend to quote 1/300-1/500. I think for cvs though, it's closer to 1/250 or so.

Feel free to pm me if you have any questions. I wish you the best of luck and hope you get good news soon.