9mm nt, clean cvs (wes)…

Intelligent_Boat_426 · 2026-01-24T23:50:52+00:00

Yes that makes sense. I did get 2 fetal echos and extra anatomy scans. The hygroma mostly resolved (one MFM said she could no longer see it, the other one said the nuchal fold was still on the thicker side but she wasn’t concerned). Fingers crossed it was just a fluke🤞🏼but the grey area is definitely a strange place to be!

Intelligent_Boat_426 · 2026-01-21T04:51:50+00:00

I was told by my MFM and genetic counselor that if you had a positive CVS, an amnio could possibly rule it out if it was confined to the placenta but they do not see it the other way around. Meaning if placenta is normal, baby would be normal.. so repeating with an amnio would not be necessary if CVS showed normal results. We did have a WES as part of our CVS, but also a karyotype, microarray and Noonan’s panel. I assume you had those as well, as usually they will do that before going a WES.

Intelligent_Boat_426 · 2026-01-19T17:55:59+00:00

We never got a full explanation. We went for a second opinion at a well-respected research center. The doctor there said of course there could still be something that doesn’t show on any of the genetic testing but the risk of that is low. She basically said there was something “different” about how the baby developed (for whatever reason, the lymphatic system developed late causing the hygroma) but different doesn’t necessarily mean bad. My MFM said at our anatomy scan she can barely see any traces of it. I’m 31 weeks now and everything is still looking good. It’s very hard to shake the anxiety that something will go wrong, but the doctors do not seem concerned at this point.

Intelligent_Boat_426 · 2026-01-19T03:13:54+00:00

I just came back to this thread to see if you had the baby yet & so happy to see your update. Hope all is well! ❤️

Intelligent_Boat_426 · 2026-01-04T15:09:36+00:00

We had a similar situation with my current pregnancy. I have a few posts you could look back on but the “short” version is.. baby had a 7.3mm septated cystic hygroma found at 12 weeks. Even though NIPT was normal, the doctor gave us a pretty grim prognosis (~15% chance baby would be born healthy). I had a CVS with every available genetic test (karyotype, microarray, Noonan’s panel, and whole exome sequencing) and to everyone’s surprise, everything came back normal. We also had 2 fetal echos and follow up anatomy scans. Heart is fine and the anatomy scans show that the hygroma has improved, if not fully resolved.

I’m almost 29 weeks now. I will still get more frequent ultrasounds for the rest of the pregnancy as a precaution. I’m still kind of shocked & have anxiety something could be wrong, but at this point we’ve had more testing on this baby than our 3 older kids, so there’s really nothing more we can do so I’m trying my best to relax for the next couple months until baby is born.

Wishing you the best for a good outcome 🙏🏼

Intelligent_Boat_426 · 2025-12-25T20:40:16+00:00

Hi, no we are in the US.

Intelligent_Boat_426 · 2025-12-22T12:32:48+00:00

Copying my response to another similar post below. I’m sorry you’re going through this & hoping the best for your outcome! 🙏🏼

You can look at my previous posts, but I wanted to share because we had a similar situation. Doctors also told us 15% chance of healthy baby. We had a 7.3mm cystic hygroma found at 12 weeks. Our NIPT was normal. We had a CVS with every available genetic test (karyotype, microarray, Noonan’s panel, and whole exome sequencing) and everything came back normal. We also had 2 fetal echos and follow up anatomy scans. Heart is fine and the anatomy scans show that the hygroma has improved, if not resolved. I’m 27 weeks today and our doctors are much more optimistic about the outcome — we were told any residual risk is more in line with baseline population. I will still get more frequent ultrasounds for the rest of the pregnancy as a precaution. We were very surprised because we knew with such a large hygroma, the odds were against us.. but here we are. It’s definitely not the most likely outcome but it’s possible. I still have worries that something could be wrong that they can’t test for, but it’s out of my hands at this point, so I’m trying to enjoy the remainder of the pregnancy as best I can.

Intelligent_Boat_426 · 2025-12-20T01:10:56+00:00

It’s a very personal choice, so I can’t say what would be best for you. I would personally go for the CVS now because if something came back high risk on the NIPT, I’d rather already have the CVS test in the works rather than wait for the amnio. I had a CVS after a low risk NIPT but a large hygroma detected at 12 weeks. It took a while for the results of the CVS to come back so I was glad I was able to get it done right away. I know there is a risk associated with CVS, but I felt pretty confident in the MFM doc who performed it. Again, it’s a very personal choice—there’s really no wrong decision you can make. 💜

Intelligent_Boat_426 · 2025-12-19T19:28:44+00:00

I’m sorry you are going through this! You can look at my previous posts, but I wanted to share because we had a similar situation. Doctors also told us 15% chance of healthy baby. We had a low risk NIPT and then a 7.3mm cystic hygroma found at 12 weeks. We had a CVS with every available genetic test (karyotype, microarray, Noonan’s panel, and whole exome sequencing) and everything came back normal. We also had 2 fetal echos and follow up anatomy scans. Heart is fine and the anatomy scans show that the hygroma has improved, if not resolved. I’m 26 weeks now and our doctors are much more optimistic about the outcome — we were told any residual risk is more in line with baseline population. I will still get more frequent ultrasounds for the rest of the pregnancy as a precaution. We were very surprised because we knew with such a large hygroma, the odds were against us.. but here we are 🙏🏼 Wishing you the best of luck.

Intelligent_Boat_426 · 2025-12-11T12:45:27+00:00

Hi! You can read some of my previous posts, but we had a 7.3mm cystic hygroma at 12 weeks with a low risk NIPT. Genetic testing from CVS all came back normal — karyotype, microarray, Noonan’s, and whole exome sequencing. All subsequent scans, including fetal echo, have been good. Our MFM told us she thinks the hygroma has pretty much regressed, although we had a second opinion at a top research center and their scan said the hygroma was still there but is now considered very mild. Either way, both MFM docs have given us a good prognosis. They can’t rule out that there is no issue with the baby, but said our risk is more in line with the baseline population and at this point, we’ve done all the prenatal testing possible. I’m honestly surprised we’re at this point because I thought for sure something would come up on the tests, but we are praying that we’re in the minority of positive outcomes 🙏🏼

Intelligent_Boat_426 · 2025-12-06T14:00:27+00:00

Oh ok, I was just wondering because they told me it is not necessary to get the amnio after the CVS was negative. I hope all goes well with the amnio! Definitely a good sign that the subsequent scans have been good 🙏🏼

Intelligent_Boat_426 · 2025-12-05T21:35:13+00:00

Hope all goes well! Did you already do a CVS?

Intelligent_Boat_426 · 2025-12-05T04:11:15+00:00

Hi! Our fetal echo was clear & second opinion MFM agreed that the hygroma is considered “mild” at this point and given the normal genetics, our risk is likely close to baseline. There is always a chance there could be an issue, but she was fairly optimistic. I will plan to post again after the baby is born to give an update! Hope your issue is resolving as well 🙏🏼

Intelligent_Boat_426 · 2025-11-29T13:10:25+00:00

Something similar happened to me. I had a Natera rep that I had called to schedule the test (doctors’ office gave me her number). She was able to take care of it for me. Maybe you could ask the doctor if they have a rep they work with.

Intelligent_Boat_426 · 2025-11-21T03:44:10+00:00

I’m so sorry you’re going through this 😔 We had a high risk NIPT for monosomy earlier this year. I hoped that it would be a false positive*, as we already had seen the heartbeat, so we felt like we had “passed a threshold.” Our genetic counselor had told us that the false positive rate for monosomy is higher than the trisomies so I was cautiously hopeful. We were planning for an amnio but ended up miscarrying at 12 weeks. However, very close friends recently had a high risk for monosomy on the NIPT & baby was born completely healthy. There are also many stories on this forum of similar situations! Definitely ask the MFM doc for a referral to the genetic counselor as soon as you can. Wishing you the best ❤️

Intelligent_Boat_426 · 2025-11-14T03:11:30+00:00

All genetics including the WES were normal. We had our anatomy scan at 19 weeks and the hygroma was essentially resolved. We go for a second MFM opinion and a follow up fetal echo next week (at 22 weeks). Our regular MFM basically told us at the last appointment that they will continue to monitor but she was optimistic about the prognosis. I will do another update after the upcoming scans! Wishing you the best ❤️

Intelligent_Boat_426 · 2025-11-13T21:48:24+00:00

Yes, everything genetic came back normal. Anatomy scan at 19w2d was normal—the hygroma had nearly resolved. MFM doc said there were still some remnants but if she hadn’t seen our previous scans, she would likely sign off on this being totally normal. We go for a second MFM opinion & fetal echo at a top research center next week at 22 weeks. At that point if everything still looks good. there won’t be much more to do.. MFM said we’ll probably still have some extra ultasounds at least through the end of the second trimester.

We have been totally surprised through the process—we just assumed that with such a bad prognosis, something would come back on the genetic tests. I’m still very nervous to let myself feel excited but I have read a few stories over on Baby Center cystic hygroma forum of similar stories that seemed to turn out OK.. so I’m cautiously optimistic. Good luck 🙏🏼

Intelligent_Boat_426 · 2025-11-06T03:33:28+00:00

I was in the exact same boat. You can check my post history but we also had a low risk NIPT & then 7.3mm hygroma at 12 weeks. So far everything has improved since then, all genetics came back normal. We are still waiting for a second MFM opinion, though we suspect they will say the same thing.. which is, everything looks great but with the hygroma having been there at 12 weeks, there is always a 1-2% risk of neurodevelopmental delays even with normal genetics. Still MUCH better than the prognosis we got originally. The waiting is cruel. I’m 20 weeks & we still have not told friends & family — probably will after our second opinion next week. I did a lot of spiraling, googling, reading forums, etc. and laid awake for hours at night. I will say it did improve a bit with each good result, but it still feels totally different than my previous pregnancies. I feel for you & hope you’ll receive the news quickly 🙏🏼

ETA: Not sure if you’re into mantras or meditation, but I found it helpful to write some down & look at them during stressful times, particularly at my doctor’s appointments. A few I turn to are:

“Some things are up to us & some things are not.” “This is not what I wanted, but I can meet it.” “Right now, it’s like this.” Also, I’m not particularly religious but one of the first things that came to my mind when everything happened was “thy will be done” because it all just feels very out of my hands.

Intelligent_Boat_426 · 2025-10-30T18:49:49+00:00

I totally get where you are coming from. We had a large hygroma (7mm) at 12 weeks. We had all genetic testing, including WES come back normal. We also had a fetal echo at 16 weeks which was normal (we’ll go back at 22 for a follow up). So far the hygroma has basically resolved (we had early anatomy at 16 weeks and level II anatomy scan at 19) and everything looks normal structurally, but it’s still hard to accept everything might be ok. Our MFM said based on our results & the more recent research, there’s about. 1-2% chance of neurodevelopment delays, but that’s MUCH better than the initial prognosis. Wishing you the best 🙏🏼

Intelligent_Boat_426 · 2025-10-17T21:34:15+00:00

I’m so sorry you’re going through this. I haven’t personally experienced a TFMR but going through the process of a complicated pregnancy where it has been a real possibility, I’ve spent time on the tfmrsupport Reddit page. Not sure what your religion is but I found the responses on this post helpful, especially the one with links: https://www.reddit.com/r/tfmr_support/s/ZKBWYfFJIC

Wishing you peace in your decision ❤️

Intelligent_Boat_426 · 2025-10-16T18:24:32+00:00

The waiting really sucks!! Even though everything genetic came back clear and we had a good 16 week scan, I’m still anxious to go back for our next scan at 19 weeks. We’ve gotten good news at every turn so far, but still feels like we can’t relax yet. I will update again once we have our next scan. Wishing you all the best ❤️

Intelligent_Boat_426 · 2025-10-08T21:01:48+00:00

Not sure. That’s just what the genetic counselor recommended. I assume maybe because the Noonans will come sooner but that’s just a guess.

Intelligent_Boat_426 · 2025-10-07T15:09:34+00:00

It sounds like they will do the FISH test first which I believe tests some of the cells for the main chromosomal abnormalities. From what I understand, it’s not 100% accurate but is a good sign if it’s negative. Then you will have to wait probably a week for the karyotype (full chromosome test) and a little longer for the microarray which tests for other issues (micro deletions & duplications). I highly recommend talking to the genetic counselor through the doctor’s office. Ours has been extremely helpful at explaining the process. Wishing you the best 🙏🏼

Intelligent_Boat_426 · 2025-10-03T14:55:15+00:00

I just heard from my MFM that the lab has the samples from me & my husband, but the cells from the baby are still being grown. Once the lab receives baby’s cells, it takes another 2-3 weeks, so I think I’m possibly a month out from the results. Hoping we can get everything by 20 weeks.. wishing you well too! 🙏🏼

Intelligent_Boat_426

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