Cystic hygroma or large nuchal fold?

antoniaakhavan · August 2015

Hi ladies -- this is my first post. We just had our NT scan yesterday and the little one is measuring a large nuchal fold -- 6.3 mm. This is almost double the cut off for normal. The doctor was saying that it might be a cystic hygroma and that a space of that size means it is very likely there is some issue, chromosomal or otherwise. He wants me to get a CVS immediately. Our NIPT was perfectly normal and there weren't any other red flags...but the range of potential outcomes are heart-breaking. Does anyone have any experience with this? Trying to keep our eyes on the 20% chance that everything is fine.

DrillSergeantCat · August 2015

I don't have any experience, but T&P's that everything is well.

Timmysgal02 · August 2015

Gosh, that is super scary when you're given the info and looking at it all. Thoughts and prayers for your CVS, keep us posted!!

kirkie928 · August 2015

I'm so sorry you are going through this! My thoughts and prayers are with you. Please keep us updated.

VitaLuna · August 2015

I'm so sorry you're having to deal with this

Do YOU want to have the CVS done? If not, then don't do it (I can't tell by your wording if you wanted it or feel like your doctor does and you have to). T&P to you, keep us updated.

txbrideinblue · August 2015

This sounds so stressful. I agree, only have the CVS done if you want to. And there IS hope in the fact that the NIPT looked normal.

Jellybelly119 · August 2015

Thoughts and prayers coming your way!

brushesnbrunch · August 2015

No experience here, but keep us updated on what you plan to do, either the CVS or not! Sending positive thoughts your way!

FreshBakedBrownies · August 2015

That's scary! So you had one of the cell-free DNA tests done too? Aren't those supposed to be more accurate? Seems unexpected that that would be normal. Did the ultrasound show any other "soft markers" for Downs? I think at my nt scan they said they also check to make sure the nasal bone had formed and maybe some other things?
I would be so scared to do a cvs or amnio. I know the risks are low, but still.
Prayers for your little one and for your decision on more testing.

antoniaakhavan · August 2015

Thank you all for your replies. Yes we had a totally normal cell free DNA test and there weren't any other soft markers for Downs or another syndrome. I know for sure that they mentioned her nasal bone being present. So...that's all I know for now. I should have a lot more information tomorrow! Trying to stay focused on the possibility of a free and clear!

katec4vt · August 2015

I know that what you are going through can be absolutely terrifying, but try to keep in mind that it doesn't always mean there is something wrong. One of my family members had a similar result at her NT scan and went on to have an amnio which showed no abnormalities.

With my first pregnancy, my NT also showed what appeared to be a Cystic Hygroma. I was sent to a high risk physician and a genetic counselor the next day, who confirmed that they also saw a CH and reviewed what that could mean. Their recommendation was termination, which my husband [then boyfriend] and I elected against. We opted for testing instead and had a CVS. The CVS confirmed we were having a girl and she had Turner's Syndrome [one of the five most common chromosomal disorders that a CH is indicative of]. We had already decided, regardless of our results, that we would see the pregnancy through as far as it would go - even though TS babies have a 1% chance of surviving to live birth. Our daughter's kidneys shut down at 22w3d and at 23w6d her heart stopped. I was admitted to the hospital the next day for induction and labored for about ten hours before delivering her, March 28 of this year. As difficult as that was, I am grateful for the team of supportive physicians, counselors, and nurses that we had surrounding us who respected our decision. We got to spend time with our daughter that we otherwise would never have had if we had agreed to terminate. Of course that was our choice, hopefully one that you will not have to make; but it's important to remember that your outcome is never guaranteed, positive or otherwise.

Obviously we don't know one another, but I have been where you are [and tomorrow I'll be right back where you just were, having an NT at 13 weeks for my second pregnancy]. I'll pray for you that everything goes well and I'll be more than happy to be here to talk (via email) if you need it!

mommyaviles · August 2015

We are faced with a high risk on our cfDNA test, and an all clear on an NT with nasal bone present. We go back in two weeks for an anatomy scan, and to see if the placenta has fused with my uterus, which is required for an amniocentesis. I've since learned that the accuracy of a cfDNA test has not been established in the low risk population of women under 35, no previous ds pregnancies. Both of these are only screens, so in order to know beyond a shadow of a doubt, we are electing to have the diagnostic procedure performed.

cici613 · August 2015

Sorry to hear that. Like pp said, only do the test if you want to. Also, I am a little confused here. When my ob knew I did the NIPT, she told me not to do the NT scan. According to her, NT scan is not as accurate as NIPT and she doesn't trust NT scan. I'm just trying to say, have faith and hope with your baby.

Aussiechicka · August 2015

I have no experience with this, I do hope it's positive news for you. My T & P are with you and your family.

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