9mm Nuchal Translucency?

[butterfly3647]

Just had my NT and it was horrendous at 9mm.  Swelling around abdomen too.  Going in for CVS today.  Has anyone even heard of a NT this high with a normal outcome?  We are talking to the genetic counselor today also to see what the long list of possible issues could be.  I'm 37.5 with my first pregnancy (well, I had one M/C at 5.5 weeks 6 months ago also).  I am nearly 13 weeks along (12 weeks by ultrasound).  I am so devastated that I can't even cry anymore.  I think I'm just looking for a miracle.

[prevatt77]

The only way to confirm that a fetus has Down Syndrome is to do a genetic test.  That being said, ultrasound can be used to look for some of the signs of Down Syndrome. About 50 percent of fetuses with Down Syndrome will show abnormalities on the ultrasound. Therefore, a normal ultrasound does not exclude the possibility that the fetus could have Down Syndrome. I would have the CVS to be sure.  

Also some of the other markers that they look for while doing the ultrasound are as follows:  Did they see any of these on the ultrasound?

Heart defects

"Double Bubble" sign (this indicates duodenal atresia, which is a gastrointestinal defect)

Shortened femur/humerus measurement(these are the bones in the upper arm and the thigh)

Hypoplasia of the middle phalanx of the fifth digit (shortened bone in the middle of the pinky finger)

"Sandal Gap" (a wide space between the first and second toe)

Pyelectasis (a dilation of the collecting system in the kidneys)

Echogenic bowel pattern (a "bright" appearance of the bowel on ultrasound)

If one or more of these markers are seen, it does not mean that the fetus definitely has Down Syndrome. It means that there is an increased likelihood that the fetus may have Down Syndrome.

[Quinns momma]

Good luck with the CVS. Keep us posted!

[maybebaby29]

Just letting you know that tests can be wrong. A friend of ours had an ultrasound and it gave them the worse news possible. They went for their amnio and it turned out everything was 100% fine. The radiologist read the results wrong the first time out. And if she terminated, it would have been a horrible mistake. Take every avenue out first before thinking/making a decision. Science can be wrong at times. Good luck.

[butterfly3647]

Thanks for all the comments :)   There was no mistake in how big the swelling was.  It looked like the baby was wearing a big fluffy hat :(   I am preparing myself for the worst as everything I've found online is pretty depressing.  Of course, I will get more answers today.  I just am sad about what is to come if this doesn't work out...having to make the decision about whether to terminate or not (Am I going to go to Hell for this???), having to start over, having to wait again to see if the baby is ok, getting even older, wondering if I won't have time to have two kids...the list of worries is long and sad.  Anyway, I guess it's out of my hands til I get more information.  Thanks again for your responses :)

[JourneyJoJo]

Good luck with the CVS.  I don't know anything about the NT scan except that anything above 3 mm is an indication that further screening should be done.  The CVS will tell you definitively about chromosomal abnormalities, if any, so there won't be any guess work once you receive the results.  I wish you the best of luck and hope that they can figure out the reason for the results and that all is fine with you & your baby.

[Glenda306]

I can understand your fears.  I just had my 4th 5mos ago today and we had quite a few "scares" with him.  His nuchal thickness was too high, but just barely.  Other problems showed up which led the perinatalogist to assume our baby had Down's or Trisomy 13 or 18 which are usually fatal.  We had an amnio and BabyB was perfectly fine.

Sometimes drs just LOOK for the worst in a mom of "advanced maternal age."  Try not to worry--nearly impossible, I know.  Everything MAY be fine, I don't know....  God can work miracles like He did for us.  Praying for you and your little one.

[jenstam]

So sorry you're going through this right now. Were they able to visualize the nasal bone?? What other testing are they offering? Are you going to have an amnio done? I have not heard of anything greater than 6mm. Are they positive their measurement is correct? Please keep us posted!

[Quinns momma]

I am so sorry you are going through this.  I have heard of NT at 7mm and her further workup revealed a healthy baby. I have not heard of a 9mm but that does not mean there are not stories out there with positive outcomes.  I had my NT and labs and those were great. Went on to have the second trimester quad screen which came back as a positive increased screening risk of downs syndrome.  I had my amnio last Thur and like u was crying until I ran out of tears. Found out on Tues of this week that baby boy is perfectly healthy.
I pray you have a positive outcome. Please keep me posted and feel free to contact me through private msg if you need a friend. :)

Hugs,
Kelly