You think it will be easy. Easy to get pregnant, be pregnant, and then have a healthy baby like everyone else. I’ve learned the hard way that there is so much more to it than that. Having a child is truly a miracle with all of the many things that can go wrong. Whether struggling to conceive, having a baby with abnormalities, having a miscarriage, or any of the other things that commonly happen, but nobody talks about.
If you are reading this, you have probably reached the end of Google searches for Fetal Cystic Hygroma (or you read my blog already – thank you). Now, you are probably looking for real life success stories to offer hope. I was in your shoes not long ago, so that is why I’m writing about this. I wanted to hear positive stories and unfortunately, there were not many. I’m hoping this helps you learn a bit more about what you can expect over the next several weeks and provide a little glimmer of hope on what is likely the worst week of your life.
I do want to note that I wrote this throughout my pregnancy, but could not bring myself to post this publicly until our daughter arrived. It became like a diary to me and honestly is pretty therapeutic to write it down in a journal. Anyways, she’s here and she’s absolutely PERFECT. We could not feel more fortunate and lucky after such a traumatic experience. We did not think we’d be here per the doctors feedback giving us a 10% chance.
DISCLAIMER: I am absolutely not a doctor and am not offering medical advice. This is a real life account of my experience sharing what I went through and learned throughout this journey. Please consult your doctors and genetic counselors for tailored recommendations for your particular situation and diagnosis.
What is Fetal Cystic Hygroma?
Here is how I have explained it to our family and friends in non-medical terms. Fetal Cystic Hygroma is seen on the ultrasound as excess fluid behind the baby’s neck (and possibly back). It is typically associated with chromosomal abnormalities, genetic disorders, and heart defects.
The most common of these chromosome abnormalities are Down Syndrome (Trisomy 21), Turner’s Syndrome (Trisomy 18), and Trisomy 13. These all basically occur when a fetus has a missing or extra piece of these chromosomes. This makes up about 50% of the risk.
The next most common is a more rare genetic disorder called Noonan Syndrome.
Lastly, heart defects are a common issue seen in these cases. However, heart defects can not be diagnosed until the baby grows – potentially by week 16 and more visible at 20. At Week 24, they can do an echocardiogram of the baby’s heart.
Prenatal Testing Options
NIPT – This is the noninvasive blood test that you will do around 10 weeks (for us at our first appt.) They sample your blood which also contains your baby’s blood. They are able to separate these cells and test to see if your baby has any major chromosomal issues. Results take 2 weeks on average and this is how people usually find out the gender as well.
CVS – Stands for Chronic Villus Sampling and is considered an invasive test. It takes a sample of the placenta to test for Trisomy 13, 18, 21 and Noonan Syndrome. They do this test cervically or through the abdomen with a needle. If cystic hygroma is involved, it will be recommended you have this test.
You will get a FISH result (basically a rapid test for the first 3 things) back in a couple days. And the full, detailed reports back over the next 2 weeks or so. The other reports are a microarray where they look closely at every single chromosome for any tiny missing or extra pieces. Noonan Syndrome takes at least 2 weeks and in our case a MONTH because the lab needed to grow more cells which took 2 weeks to do.
Amnioscentisis – This can be performed at week 18, however, I did not have one of these since we did CVS so can’t speak on it. They take a sample of the amniotic fluid typically via needle through your abdomen.
Our Story & Experience with Cystic Hygroma Diagnosis
Let me start at the beginning…..
My First Trimester
On January 14, 2023 we found out we were pregnant via a positive test result. We were thrilled, elated, nervous, and all the feelings when you find out you are going to be first time parents. I was about 5 weeks at the time. It would be another 5 before we could schedule our first prenatal appointment which felt like an eternity to wait for official confirmation.
On Friday, February 24th, we finally had our first visit at week 10. The doctor did a bedside ultrasound and said “oh yeah, there’s definitely a nugget in there!” We heard our baby’s heartbeat for the first time and she told us to film a quick video of it. She handed us a few photos and left the room. It was one of the best moments of lives. We were so excited as you can imagine. Until she came back in the room. She told us there was more fluid behind the neck than she typically sees and recommended a NT (Nuchal Translucency) Test. This is basically another ultrasound performed by the actual sonographers to measure the amount of fluid. We scheduled it for later that day.
When we returned for the NT test, they did 2 more ultrasounds that afternoon then we waited on the MFM doctors to assess. The ultrasound tech came back in with probably 6 other people which was when I knew it couldn’t be good. The MFM doctor introduced herself and everyone else. And then she said a few words I will never forget: “and this is the genetic counselor“. Those are two words you never want to hear. They told us our baby had cystic hygroma with septations. We of course had no clue what any of that meant. The best moment of my life earlier that day quickly followed by the absolute worst.
They left us to chat with our genetic counselor where she went over everything from risks, to tests, and next steps. The next step is a CVS test which we had done that same day. I won’t go into detail, but the test should be pretty easy, but mine was quite traumatic and ended up having to go see another doctor in a different practice to make it happen. And of course we had to wait until Monday to do that…
We did the test on a Monday and by Wednesday got the FISH results which were NEGATIVE. There’s a viral infection that can cause it too, but that was negative as well. At this time, we also learned we were having a baby girl. We felt so much hope and just manifested that everything was going to be okay. We live in Charleston and the bright pink azaelas had really started to pop that day in what was the most gorgeous bloom I have ever witnessed. Nature’s gender reveal! We went on a walk through the park where these plants are everywhere and it just felt like a good sign.
Another week went by and we received the microarray result – also negative.
The worst part is the waiting. There is nothing you can do but wait. You have zero appetite, but you are still pregnant and nauseous if you don’t eat.
My Second Trimester
Finally, at Week 16 we had an early anatomy scan. The concern here was that the fluid could be getting worse not better. Thankfully, it had gotten smaller in relation to the baby and they thought it was on track to continue resolving. They could see all 4 chambers of the heart which meant that possible heart defects would not be life threatening. The last thing to check off our list was Noonan Syndrome. We received that test result later that same day and it was NEGATIVE. This day was truly a miracle. However, we knew there was still a long way to go.
Week 20 – we had another anatomy scan this week which is typically when they are performed to check all of your baby’s organs and see the gender if you don’t already know. They were able to get a good look at everything including her heart and it looked normal. We did not talk to the MFM doctors or our genetic counselor after so have been waiting to confirm it is in fact resolved.
The next thing to do is an echocardiogram at Week 24 to take a closer look at the baby’s heart. This is also performed via ultrasound. If you are counting, this will be my 7th ultrasound.
As of May 2nd (11 weeks of this), our genetic counselor confirmed everything looked normal and the cystic hygroma is COMPLETELY RESOLVED! With negative testing and resolved CH, she said there is nothing to be concerned about and our risk is back to baseline which is less than 1%. Of course, they can’t rule out all risks, but honestly that is the case with every pregnancy – you just never know. We’ll still do the EKG, but hopefully that is more of a precaution at this point.
Week 24 – We did an EKG of the baby’s heart which is basically an ultrasound where they get a detailed look at the heart. Everything looked normal thankfully, but they still want us to return in 4 weeks to do it again because they could not see every angle.
Week 28 – My 8th ultrasound to date. We had another EKG and everything looked great! The MFM doctor came in and had us worried at first, but quickly assured us she was there with good news. She asked that we come back in 4 weeks for a growth ultrasound. When I asked if she was growing too slow/fast, she told me she was growing “too perfect” and was 49th percentile. I feel like that is something you say when you don’t want to say the truth so I’m of course still worried.
My Third Trimester
Week 33 and 6 days – We had a growth ultrasound and everything was normal. She is measuring on the smaller side at the 20th percentile.
Week 36 – This week I start weekly appointments and the countdown is on! At this check-up, they did a quick bedside ultrasound to confirm that her position was head down and check heartbeat. Quick, but still counts as my TENTH ultrasound.
Week 41 + 2 days: Baby was real cosy inside so the doctors thought best for me to be induced. Our beautiful baby girl arrived and she is perfect in every way. We finally were able to feel relief after having this in our minds throughout the entire pregnancy. We are so thankful.
How We Told Friends and Family
When we found all of this out after our first appointment at Week 10, we had not told many people that we were pregnant other than family. We did end up having to tell some close friends and did so via text. It sucked (no other word for it) to have the joy of telling your best friends about your first pregnancy taken away from you. You basically have to say “I’m pregnant, but…”. People don’t know what to say so I recommend doing it via text. It’s pretty heavy if you go see friends and break this news in person. And you need to hang out with friends, you can’t hide forever while you await test results.
We were really blessed with some amazing friends in the medical field who knew (or helped research) about this and helped us through.
Other Tips for Managing This
- Don’t google too much – it will drive you crazy. If you are reading this far, I know you have already googled endlessly! Stop here and manifest some positive energy for your babe.
- Look at the dates when you are reading studies. Many are outdated and I’ve heard it is time to be more positive about potential outcomes.
- Cystic Hygroma is actually pretty common.
- Manifest as hard as you can that everything will be okay. It’s the only way I got through it was to believe it would be okay. I noticed little signs everywhere and took them as the universe comforting me.
Any questions? Please feel free to ask in the comments below or use the contact form which goes to my personal email. I’m happy to talk to you.
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