Cystic Hygroma Trisomy 21 Diagnosis

12 Replies
Mrswrc - January 3

My baby was recently diagnosed with a severe cystic hygroma (I'm about 14 weeks). We had a CVS done and the results are due to Trisomy 21. The doctor indicated the prognosis is very poor. Has anyone been through this experience? Any postive outcomes? If not, I'd like to know that too. Thanks.

 

deniseb - January 3

Hi mrs, I have had two trisomy 21 and one Trisomy 15 but miscarried around 12 weeks on all. Are they telling you the baby will survive? or what are they telling you?

 

Mrswrc - January 3

The doctor can't tell me that the prognosis is 100% lethal but it is likely that the baby will not survive the pregnancy. If he does, he will have very serious problems. It must have been difficult for you to go through this 3 times... my heart goes out to you. Do you have any children? This would have been my first - a boy.

 

deniseb - January 3

Hi Mrs, My first pregnancy was a blighted Ovum..basically chromsonal issue also, then I got pregnant 6 mths later (I was 33) and gave birth to my son now 5. Since trying for a 2nd child I have sufferd three mc's as described above. I recently had genetic counseling done to see if I carry a genetic problem and the answer is no, which is good news. The genetic counselor said trisomy is caused by numerical error in chromosones 21, 16, 15 and a few others, if it was a genetic issue being carried it would be structural errors which are typically chromosones 11, 13 etc. They put it down to bad luck for me caused by "Bad" eggs which we all carry bad eggs but some more than others, this does not mean we will not carry a healthy baby down the road she said my chances are as good as any, so I am going for it again. I like you on any future pregnancies will have to do CVS as my percentage raises 3% from having 3 trisomies (it's not that much..3% out of 100%) I am really, really sorry this has happened to you and my heart goes out to you it is not easy. I feel very blessed I have my son...very blessed, but I still grieve for the ones I lost even though I know they had problems and I would not want my child to suffer, but still I ask why would this happen 4 times to me? then I read stories in here about women that lose their babies at 20-40 weeks and they are healthy babies it puts my situation in perspective. What will be the next step for you?

 

tryingx3 - January 3

my heart goes out to you as well...I had 2 m/c before a successful pg and both were chromosomal (one partial molar, the other tested as extra chromosome 15). When we found out tee first was partial molar, there was still a heartbeat, we were devastated and just prayed for the best as everything I read said that baby would probably have severe problem s if it survived.

 

julie2007 - March 31

hi - i know this post is over 2 months old - but i jsut got the chromosonal testing results back from my m/c from mar 9 and i have a million questions so i am searching this site for answers. the doc covering for my regular OB/GYN called em yest - as the results finally came back and they knew i was anxious to see what happened - unfortunately - she told me that there were "no major chromosonal abnormalities" and then went on to say that there was no trisomy 21 or 18 etc -- and then told me that it was a little girl ---and i lost it crying hysterically - didn't hear much more that she said ---- so now i have questions (and it's a weekend) and does this mean that she was a healthy little baby girl??? if so - why did i miscarry? is there some sort of problem with me then?? i have a beautiful DD that is almost 2 and wanted so myuch for her to have a sister - but it took us a long time to conceive the little girl i lost -- so now at 39 i am not sure of our reproductive future. any help would be greatly appreciated in understanding this nightmare.

 

deniseb - April 1

Hi Julie, I was the one posting on here earlier having had 4 mc's all with chromosonal abnormalties. Did your doc test from fetal tissue after a D&C? if it tested normal and you have a two yr old DD I am not sure what it could be. I also have a 5 yr old DS he was my 2nd and only succesful pregnancy I have had 5 all together. i am 38 in June and like you really really want a 2nd child. i mc'd twice last year so I am on a break for now.

 

mom23 - April 5

I know this post is a few months old, but wanted to respond to see if Mrs. is still out there and how she and her baby are doing. I don't know what severe cystic hygroma is, but I had a baby w/trisomy 21 when I was just barely 36. Found out through a Level II ultrasound, then confirmed with an aminio. I spent the entire pregnancy in fear and was felt completely helpless. We were told that the baby had Down syndrome, ventricularmegaly (sp?), and among other things, a probable heart defect. He is now a beautiful boy (now 6 y/o), no heart defect and things have gone very well. Don't get me wrong there are issues with Down syndrome, but nothing like what I was trying to prepare myself for. When I was 39, we decided to try again and I got pregnant in the first month of trying. Unfortunately, I miscarried at 9 weeks, but we found out the baby had trisomy 15 which is not compatible with life, so if you are able to carry them to term, they usually die shortly after birth. I was devastated. We decided to forget about trying again because we felt like we just weren't meant to have another. My doctor wasn't the least bit supportive either. Now at 42, we are probably crazy, but we want to try again. New doctor as well who is very supportive of a patient's decisions. We figure if we have another with trisomy 21 (Down syndrome) we can handle that. If you can find a Down syndrome support group in your community I highly recommend them. We found one in Dallas and Fort Worth and they were a God send for us because we didn't have a clue what all of it meant. We were able to meet other children with Down syndrome before our little boy was born and we saw how they are just kids too. It's been a positive outcome for us with ups and downs, but more ups than downs. I know it wasn't what we expected or thought we wanted, but it's been an experience I wouldn't trade for anything. If you would like to communicate by email, please let me know. I hope things have worked out for you.

 

Mrswrc - April 5

Mom 23 - thanks for asking about our baby. Sadly, I miscarried about 2 weeks after this posting. We are now in the process of trying again. I do appreciate your message however. At my age - I'm 38 - I am concerned about potential problems but my husband and I are optomistic. Regarding your situation, I think you need to do what is right for you and your family. If I can get pregnant again sometime soon, I will have my first at 39 and so the second would be in my early 40's, which I would certainly consider. I try not to read all of the websites for pregnancies in late 30s/early 40s because they are all doom and gloom.... and scary. But I have had friends who have had perfect babies in their 40s!

 

deniseb - April 5

Hi Mrs, sorry to hear about your loss it must have been hard on you as you were a litle further along than I was. I myself have taken a break from ttc, losing two last year I figured I needed to give my old body a rest :o) I am taking my pre-nats so at least my body is getting prepared if I did get pregnant. Mom23 yoyr son sounds like such a delight and it is wonderful to hear your story and how it ended up being the best thing ever. DS kids are so loving and so innocent you cannot help but love them to pieces.

 

mom23 - April 7

Mrs-so sorry about your loss. I know that must have been so hard for you. It's certainly a hard thing to go through. It sounds like you and your husband have the right att_tude about trying again. Your odds are so good at only 38/39 for having a very healthy baby and optimism is crucial. Good luck to you. I hope you get pregnant quickly. DeniseB-thanks for your kind words.

 

deniseb - April 8

Good Luck to all of us!

 

AmtGirl232 - February 10

hi there. My son was diagnosed at 20 weeks pregnant by an ultrasound to determine s_x. I was 20 and then send to yale as a high risk pregancy. They at 20 weeks diagnosed 3 large ma__ses, had a clear amniocentisis and was given the option to reminate and was encouraged to do so. I decided to keep the baby, I was on bed rest on and off the remainder of my pregnancy and started with contractions at 26 weeks. I continued high risk care and had 3 level 2 ultrasounds a week. No one would talk to me about a positive prognosis. At 35 weeks I was in full b__wn labor ealier then the sceduled c section dat in which 32 doctors were organized to be at. I had to be given full anestisia because the grown under his arm was so large, with out it they would have dorn my uterus apart. An exit procedure was performed (they insert a breathing tube before cutting the cord). After 3 days he was off the breathing tube and bottle feeding a small about of b___st milk (pumped) in the NICU. At 20 weeks he had his first surgery. Now at 3, he is getting ready in 2 months for another one, the second in six months, but there have been a lot. My baby was a miracle, but miricles do happen. He is a trooper, although this is a long term problem that is life long. Surguries and doctors, sicness and recovery not to mention the stress and frustration.... i feel blessed with my baby, no matter what comes along with him! -Amy

 

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