Cystic Hygromas diagnosed during 1st trimester screen


#1

Our pregnancy has been an unbelievable roller coaster (see signature) and today we got more difficult news. The baby was diagnosed with bilateral cystic hygromas (fortunately they are small). Our NT measurement was 3.3 mm. The perinatologist told us we had a 40% of a chromosomal abnormality based on this diagnosis alone. We went a head and did bloodwork as well, but the lab said our results will automatically come back abnormal because of the cystic hygromas. On a positive note, the baby’s heart looked very good and there was a nasal bone present. Needless to say we feel like we’ve been kicked in the stomach. The studies on the internet show very poor prognosis for this condition, although I’ve read a few board posting where the baby’s have been perfectly healthy. Any one with experience in this area?


#2

I am so sorry:grouphug: . I did a little research for you and from what I understand there are no immediate answers. I would go through an amnio and see what that says that may help make your decision. Also get a second opinion. Best of luck. It looks like your little one is a fighter so the angle might make it out ok. :grouphug: :grouphug: :grouphug:


#3

Thanks for your sweet response. I’ve been doing a lot of research over the couple days and fortunately I’m encouraged. Our cystic hygromas are very small compared to what I’ve seen, and there is a very good chance they will resolve themselves. It just astonishes me that being such a stastical anomoloy with 3 consectutive losses, the baby has a condition that affects 1% of pregnancies. Guess it’s just par for the course! I’m not sure if we will do amnio or not. I think we are going to wait and see how the 16 and 20 week scans go and make the call then. I’m really nervous about taking any additional chance for miscarriage with my history. For now, we have the mindset that everything is fine, and our little fighter is healthy and perfect. I’ll believe otherwise when I see it :slight_smile:


#4

That is a great attitude. Yours does seem to smaller than the average. Maybe around 16 weeks you will be able to see more and at 20 weeks you should be able to make sure that everything else is perfect with your child. What ever you choose to do it will be the right choice. Sometimes you have to just wait and see and that is the hardest part. Like I said before you baby is’nt ready to give up! :grouphug: :grouphug:


#5

I’m so sorry you’re undergoing such stress. Maybe the hygroma will correct itself or will remain very small.

I don’t have experience with cystic hygromas, but in my first trimester one of my babies had a thick neck (5+ mm) so I had a CVS test on the placentas because it could be done sooner than amnio. Prior to the test at about 12 weeks, the neck corrected itself but I had the test anyway. The CVS came up chromosomally normal. The perinatologist and genetic counselor said often neck issues resolve on their own and that it could have been a lymph fluid blockage or a slight heart murmur (murmurs are present in most of the population).


#6

Thanks to you both. I am officially 14 weeks today! It’s amazing to think we’ve come this far.

I have read a lot that neck enlargements frequently correct themselves and result in perfectly healthy babies. BabiesAreCute, I’m so happy that this was the case for you too :slight_smile: Unfortunately, so much of these early scans and risks factors are just “guesses.” It’s such a double edge sword of being aware and informed, but not knowing if it’s anything to be seriously concerned about. It’s a shame that after going through so much to get pregnant we are presented with scary statistics. In our case, the 40% risk factor is something we get lumped into because of the cystic hygromas. It doesn’t take into account size, or that so many other things look good. It just doesn’t make a lot of sense to me that I have the same risk as someone with a cystic hygroma that measures 7mm. I understand that in today’s age of lawsuits they have to give the “worst case” for everything, but it sure does put a lot of premature stress on you. For that reason, we are just going to take things as they come and make decisions from there.

I will be sure to keep you posted! My 16 week ultrasound is on Dec. 7th.