*Updated (happily!)* [TRIGGER] Cystic Hygroma-- please share your experiences and outcomes.

[littlecityfarmer]

*UPDATE 2* Had another sono yesterday-- my Perinatologist did the scan herself. Hygroma looks much smaller, no sign of hydrops, and heart is definitely 4 chambered! Full genetic screen was normal, too. Results were "very reassuring" according to the Peri, and while prognosis is still guarded, things are looking good! Planning a fetal echocardiogram in a couple of weeks, and hoping nothing too bad is found then-- although, as long as everything else is mostly ok, a heart defect wouldn't phase me overly much, since I grew up with a VSD and know the local Pediatric Cardiologists quite well...

So, thanks again, wonderful mamas, for your kind words, good wishes, and shared experiences :) They really have made a difference, and although we're not 100% sure that all will be well with this kiddo, chances are much better than we initially feared!

**UPDATE** FISH Results were normal-- 46 chromosomes, no triplicates or deletions!! Still waiting for the full genetic results, but since I was expecting the very worst (I'm usually a pathological optimist, but was trying hard to be realistic), I am just incredibly relieved. Chances for a healthy baby are now 50-82%, which is waaaay more reassuring than the 2-9% statistic I was so worried about. Not totally out of the woods-- there could still be heart defects (less likely with the good genetic result) and/or hydrops, and the hygroma is quite large, but really feeling far better about the odds, at least for now

I wasn't planning on having the Nuchal Translucency screen, but this pregnancy is high risk for a number of reasons, and during a routine anatomy scan, my Perinatologist's sonographer found a 6.9mm X 24mm Cystic Hygroma on the baby's neck. I'm just about 13 weeks pregnant (my seventh pregnancy-- 3 healthy children 7,5,3, followed by three m/c w/in the past 18 months, and the current pregnancy).

The sono was Thursday, and I had CVS on Friday, from which the FISH karotype results will be in sometime Monday-- there's greater than a 60% chance that the baby will have genetic abnormalities, either chromosome deletion (William's Syndrome) or a trisomy. The prognosis as discussed by my doc and gleaned though my own research is pretty grim. There's a small chance the hygroma will resolve on its own by 20 weeks, but a pretty good chance that it will developed into hydrops, which would be fatal to the baby. Pending the karotype results, there's about a 9% overall chance of having a healthy baby.

I am just beyond worried/upset... After the losses last year (the second was exactly a year ago, a 16 week placental abruption, physically and emotionally the hardest thing I've ever gone through), we were thrilled to be pregnant again. All the previous sonos have been great-- baby is growing right on track, has a good strong heartbeat, and solid, well-placed placenta, and even on the Thursday sono that revealed all  these issues, baby was dancing all around and waving, thumb sucking, etc, and same on the sono before the CVS. We were going to share the good news about the new baby with family this weekend, but now, that's on hold until I know more. It literally breaks my heart to think the perfect baby I've been growing may not make it to birth. In many ways, this is harder than the other losses, because those were kind of decided for us, and with this one, we're going to have to make some very difficult decisions. 

At this moment, I'm just in limbo waiting for results (Monday). I've been crying for two solid days. I can't sleep. I can't eat. I've been hiding out in bed, just this side of catatonic, while DH has kept an eye on the kids (I told them I'm resting because I don't feel well-- they don't know I'm pregnant, but they do know I've been fighting a nasty cold for the better part of a week). I'm trying to rally a little, because I can't be a total wreck on Christmas (we were supposed to host, but I told my mom what's going on, and we switched it to her house) again this year.

This is such a long message, and I'm so grateful to anybody reading it. I would very much appreciate any information, experiences, resources, you wise mamas are willing to share about Cystic Hygromas and genetic anomolies in your pregnancies. PM me, please, if you don't want to share publicly.

Edited by littlecityfarmer - 1/6/11 at 3:30pm

[myk]

i'm sorry i have no experience. i hope everything turns out ok.

[lmevans]

I'm sorry, no experience or information here either. Just wanted to give some hugs and wish you peace and prayers and positive vibes!

You're finding out the results today? Good luck!

[littlecityfarmer]

Thanks so much for the good wishes, mamas! I spent most of Thursday and Friday having a very long cry, and held it together pretty well for Christmas (and when I wasn't able to hold it together, I blamed it on the massive cold I've been fighting for the better part of a week).

The results are going to be in any time... Waiting for the phone to ring while the kids play with their new toys. If I don't hear by 1ish, I'm going to call myself (my perinatologist's office is always super-duper busy, as they're the high-risk pregnancy center for a good chunk of NYS). I'm hoping for the best (no detectable genetic anomaly), obviously, but steeling myself for the worst (Trisomy 13 or 18 would be absolute worst, as those are fatal). If the news falls somewhere in the middle-- William's Syndrome or Down's, we're going to have a fetal heart sono before making any decisions... 

The hardest things about this to wrap my head around is that if I lose this pregnancy, too, I'll have had more unsuccessful pregnancies than living children. And this is my last pregnancy-- I'm only 30 and could probably have another baby at some point, but I just can't go through another loss and come out of it with all my facilities intact, and DH, at this point, is DONE.  I'm really worried about him, too, but that's a whole 'nother thread...

[rootzdawta]

Just sending love and encouragement your way.  

[javilu]

Just saw your update!  Yay for better results!

[lmevans]

Yay for the update!

[Lollybrat]

I came across your post while searching for something else and wanted to share our experience.

My son, who is 6.5 years old, had a cystic hygroma (CH) in utero. It was discovered during a ultrasound for size and dating when I was about 10 weeks along. My OB spent a lot of time going over all the terrible possibilities and bad outcomes. I was scheduled for a series of Level II ultrasounds. I refused amnio and CVS, despite the immense pressure to do these tests. (I am not against the tests themselves, but for religious reasons DH and I did not want to be put in the position of being pressured to consider certain things if a chromosome problem existed.) The pregnancy was closely monitored by the high-risk specialists at the local hospital. DH and I cried a lot and prayed a lot. Most parents pray for a healthy child. We prayed for a living child and the strength to handle whatever challenges may come.

By the ultrasound at 22 weeks, the CH had almost completely resolved. The anatomy scan showed a healthy baby boy with no soft markers for chromosome problems, no heart defects, no problems anywhere.

DS was born healthy, 10 days late, and weighed 8 lbs. We were thrilled.

DS does have a small, flat mass on the back of his neck. It has always been there. His doctors have looked at it believe that it is a dermoid cyst (fluid and cells trapped under the skin). When we have asked if this is related to the CH, we have gotten answers like, "Could be", "I don't think so", and "Possibly". Since the mass is small and benign, we do not feel the need to have it surgically removed, which would be the only way to know for sure.

My son does have a list of medical diagnoses: High Functioning Autism, Albinism, and Asthma. Several months ago he had a chromosomal microarray done and were shocked to find that he has a microdeletion on his 19th chromosome. This is very rare finding - so rare that the medical community does not know the clinical significance of it, if any. It is not something that would have shown up on a CVS or anmio.

We sometimes wonder whether the CH played a role in our son's autism, which we believe he was born with, or his other issues. There is no scientific evidence of a relationship between CH and autism or any his other issues, but there are also no studies. So even now, all these years later, we still have more questions than answers.

Even if the CH is not medically related to his diagnoses, I think the conditions will always be linked in our minds and hearts. After all, we asked God to let our baby live and promised Him that we would accept whatever challenges this child might face, and God has held us to our word. We thank Him for this daily. Our son is an extraordinary little boy, a miracle, and a blessing.

I don't know if any of that helps. I will keep you and your baby in my prayers.  

 

[myk]

i'm so glad the genetic testing came back good! i hope your baby is born healthy with no problems!

[littlecityfarmer]

Lollybrat, thank you so much for sharing your story. It helps a lot to know that others have been though similar struggles :)

And everyone, thank you for reading and posting. The good wishes have kept me afloat for the past week!