Hi Everyone, I posted this in the second tri forum as well, but thought I would try here too...

I am just moving over from the first tri board (I'm 13w 4d today!) and I have spent the past week stressing out over my first trimester screening results Here is what happened:

I went for the scan at 12w 4d, and the baby looked perfect. Heart rate was great, limb measurements were great, everything was there and developing as it should, and my due date was exactly what it had been in my past scans (6w, 8w, 10w). During the u/s the little guy was taking a nap, and was in a difficult position for the NT measurement. The doctor had me lay on my side for a while, but that didn't help, so she used the scanner thing to try to shake the baby awake. He/she would jump up and kind of readjust, then settle back in. Basically, as the little guy was in a jumping/readjusting position, she would freeze the frame to measure the NT. I watched closely and mentally logged all of the numbers as she measured. The lowest measurement was 3.2, and the highest was 4.2.

After the scan, the doctor told me that my NT measurement was too high and of concern. She said the next step was a CVS or an amino, and she sent me to talk to the genetic counselor. The genetic counselor threw a bunch of numbers at me, and seemed incredibly grave and serious and assured me that I had "done nothing to make this happen." She said she would send my blood work out to complete the screening, and give me my risk assessment once it came back. But she all but told me that the odds were not in my favor. Fast forward four days, and my blood work came back perfect. Given the increased NT, I was still a "screen positive" and my odds were 1:92 for Tri21, and 1:92 for the other trisomies.

This is what really concerns me though:
I asked the genetic counselor what my NT was recorded as, and she told me 4.4. I watched extremely closely as the NT was measured, and did not ever see it at 4.4. Also, in the time since the scan I have read several medical studies, and doctors are not only not supposed to measure the neck when it is hyperextended (as my baby's was while he/she was trying to adjust), but they are supposed to take the AVERAGE of all measurements to assess risk.

I opted against the CVS and amino because I would carry this baby regardless, and didn't think any risk of harm was worth knowing for the sake of knowing. I did opt for a more definitive blood test that uses my blood to test the baby's DNA, and I am still waiting on these results.

I guess I am just wondering if anyone else has been through something similar, or has any advice/feedback/input for me. From everything I have read on this forum and others in the past week (probably too much...) this test seems like a crock and incredibly ineffective and anxiety provoking.


Sorry for the long post and vent, I could just use some support right now during this terribly waiting period...

I am so sorry for what you are going through. Last august I was told at my scan that our baby had a NT of 10.6mm. It was one of the largest they had seen in a long time. I was pretty much told that there was no hope right there and then on the bed. I cried for days and did so much research, we had a family holiday planned to Thailand the next day. I decided to go and was told that I had a very high chance of miscarrying. I lasted 18 days and came home. The day I was to have my amnio I found out the baby had died in the scan. It was the most horrible moment but I also felt an amazing weight lift off my shoulders because she chose to go on her own and I didnt have to make any decisions that I may have lived to regret. Two days later I was induced and we had our wee girl. She was so precious, She was 16.2 weeks but she was 18 weeks by our dates. We had been given a 1:1200 chance of having trisomy18 after the combined screening and we were that 1. Your blood results may change everything hun xxx Keep positive and your wee baby will feel your love xxx take care and lets us know how you get on. You will be in my thoughts

Good luck in your further tests. I agree the sonographer does seem to have recorded a little on the high side. All the best.
So sorry to hear of your loss naxalias

Hi

8 weeks ago at our NT scan we got told baby had a NT measurement of 8mm!!!! Doctors were quite negative, we had CVS done and no syndromes came back from it at all, now at 20 weeks our baby boy is perfectly healthy and fine with normal size nuchal fold.

All I would say is if you are not having a CVS please request regular scans. As my daughter (now a healthy 1 year old) had a larger NT, then developed hydrops (very very fatal fluid on chest and abdomen) if we hadnt had more testing done she would not have had the right fetal medicine (she had fluid aspirated of her chest through my tummy weekly) and she would not have survived! So please make sure you are seen regularly!

I hope all goes well and your enlarged NT is just one of those strange things that happens like my sons and will all be fine :-)
xxx

Thank you everyone for your support and advice!

I got my verifi test results back, and was clear for all major chromosomal abnormalities... and it's a girl! It was such a relief, but I'm still going to go for an early anatomy scan at 16wks so they can make sure that everything has resolved.

Thanks again!

wahoo great news!

Hi I just had my NT scan at 12 +4 March 5. I was told my neck thickness is large and I have a baby at risk of downs. I refused the cvs and am refered to a genetics counsellor. I am so worried and I do not know of the questions to ask. I live in BC Canada so we don't have the verify test here or the m21 test either . I am so glad your verify came back good and congrats on a little girl.

Just wanted to say congrats on your results and to respond to the person from BC Canada. If you call BC screening ceneter and talk to a genetic counseller they will tell you there is now something similar to the materni21 test available here in Canada that is called Harmony test (and one called NIPT through a company called PRCM out of Vancouver). I do not have all the details but give them a call and I believe they can help you organize having the blood test if you want vs something more invasive. The olny catch is that it is not covered so you have to pay out of pocket, approx $1200. Hope this helps and good luck!