Update--In tears re: negative prognosis from NT scan

palomaLuna · August 2013

I went for my nuchal translucency scan last week and the ultrasound tech discovered a large pocket of fluid behind the baby's neck (he called it a cystic hygroma.) The space behind the neck, in a normal scan, can be up to 2.5 - 3mm. This was 7mm, and extended all the way to baby's trunk. We're looking at a very high risk of chromosomal abnormalities, including Trisomy 21, 18 and 13. I'm so sad about this. We scheduled an amniocentesis for when I am 16 weeks. The waiting is going to be really difficult.

Just had to share somewhere since we haven't even announced my pregnancy to our families yet, beyond the very closest members. We were waiting for our first ultrasound to make the announcement, and that was it. I'll be showing soon so I guess we'll have to say something then, but I'm not looking forward to sharing all the details.

Any advice on how to go about sharing the news? Or not?

nicole mackenzie · August 2013

Im sorry you are going through this. Tell people if you need their support through this, but if you are not ready there is nothing wrong with waiting if you can still hide it or are not showing.

Good luck. Sorry I don't have any real advice.

aliandchris · August 2013

I had a high NT measurement, was told the risk of chromosomal abnormally was 1 in 4, had a CVS that was negative and my daughter is now 4 months old and perfectly fine (she is a chunky monkey and has a thicker neck than my son.). Please don't give up hope!

palomaLuna · August 2013

Thank you ALL!

Thanks especially for the helpful, hopeful words, aliandchris. That eases my anxiety so much.

aliandchris · August 2013

I remember crying for the 48 hours it took to get the chromosomal results back. I'm so sorry for the stress you are going through (because I know how awful it is). False positives are unfortunately common so keep that in the forefront!

aliandchris · August 2013

Pp is right; definitely make sure they do the blood test! My odds of an abnormality were so high, the offered the CVS (which I risked) and once they have the genetic tissue, they can test for everything beyond these 3 trisomies. You can have the full blood test results back in 10 days versus waiting for an amnio. If you want to PM me with any questions, please do! I haven't posted on thebump before because I used to have trouble doing so with my iPad. Apparently the system upgrade has made it easier!

palomaLuna · August 2013

lrachelle80 said:

Can you do the Harmony or Maternit21 test? You'd have the answers definitively in a week instead if doing a riskier amnio in a month.

I would love to. I asked my midwife and the genetic counselor about it and they both just referred back to the CA standard prenatal screening.

I will definitely dig deeper to see if I can find some place that would offer me either of those tests.

Thank you!

palomaLuna · August 2013

PM'd you, aliandchris. Grazie!

kalette · August 2013

I hope everything turns out okay. I just wanted to let you know I can relate to how you are feeling. My DD had markers for Trisomy 18 at her 20 week U/S and we had an amnio done then.. waiting was awful. I could barely enjoy anything at all until we got the results. Everything was fine. Sometimes there are abnormalities on the scans that turn out to be no big deal in the end!

msronzio · August 2013

I have no good advice or experience, I just wanted to tell you that we're here for you. Sending Ts and Ps your way.

palomaLuna · August 2013

Thank you, kalette and mrsronzio. I appreciate the hope and can use all the prayers I can get!

You ladies are wonderful.

AryaJane · September 2013

Sorry you have gotten this unsettling report. Hopefully everything will turn out ok!

pete0121 · September 2013

HI there. So sorry you are going through this. I just wanted to let you know that my daughter has Turner Syndrome. Many of the families I have met had their daughters diagnosed in utero due to a cystic hygroma. My daughter did not have one, but it is very common with TS girls. Now, don't run off and google TS because, believe me, its WAAAAYYYY better than what it sounds online. I'm telling you this because I want you to know that I can connect you with other women who have gone through this scary part of pregnancy. Please feel free to PM if you want to talk with some other moms who had this same thing happen. Hang in there momma!!

erbear · September 2013

I'm so sorry to hear that. Good luck with your amnio. Tell people who you think will be supportive, especially if you'll have to make hard decisions about your pregnancy, and keep it quiet to everyone else. Please also remember that sometimes markers don't mean doom and gloom - stay positive! Hugs to you.

palomaLuna · September 2013

Hi ladies,

Thanks again for all the support, Ts&Ps!
Well, I was able to go in for the Harmony test, and that revealed a 99% chance of Turner Syndrome, which we will confirm with the amniocentesis on Monday.

Darinsgirl0818 · September 2013

I'm so sorry your are going through this. You and your daughter are in my thoughts and prayers.

kalette · September 2013

I am so sorry you are going through this. T&P's that monday may bring good news.

imakeeff0rts · September 2013

savannah_girl said:

I personally would not share the news unless someone one asks. wait til you have more information. Hugs and good luck.

^This. It's really none of anyone's business, and who knows? Like PPs, it may turn out for the best.

I don't have any other advice. I'm so sorry.

palomaLuna · September 2013

Thank you!

I am starting to show, so if people ask now, I will confirm that I'm pregnant. But they don't need to know anything beyond that.

I am planning to carry this baby as long as she'll stay, and I hope she'll make it to term.

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Update--In tears re: negative prognosis from NT scan

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