Anyone Have A Trisomy 18 Diagnosis

14 Replies
yosemite - May 17

I just had my level II ultrasound today and the results weren't good. 5 markers for a chromosomal problem. I had an amnio but won't have results for a few days. The doctors have mentioned termination a few times. But I don't know if that's the best idea for our family. (We also have a two-year-old). Does anyone want to share their decision and experience?

 

Skyeblue - May 17

I am very sorry that you are going though this and in the waiting period. I would recommend a 2nd opinion. With my 2nd dd, her 21 week u/s showed (well the drs opinion!) that her head circ_mference was below the 3rd percentile and the dr said she most likely had a chromosomal defect. He recommended amnio asap so I would still have time to terminate. It devestated me and needless to say ruined the rest of my pregnancy, I was so depressed and worried that I lost weight. He was completely wrong, my dd was perfect. I would not have terminated anyway as I had been feeling movement since week 13. What week are you? What does your husband say...? How do you feel?

 

yosemite - May 17

I am 19 weeks. I too have felt life from about 13 weeks. I am just starting to show and get into maternity clothes. My husband's att_tude is kind of "there's nothing we can do". I think he's waiting for the amnio results to really accept it. On the one hand, I want to see and hold my son, and give him a chance at life. On the other, I don't want him to suffer or to be in pan. I know that it is up to God, and I accept his will. But it's also my responsiblity to protect my children, to keep them from harm. I worry too about the effects on my two year old. The perinatologist recommended I come back in 2-3 weeks for another look at the heart (the valves were a little malformed). He actually told me to please call and cancel the appointment if I decided to terminate! Before this last ultrasound (which was my 3rd) which confirmed 5 defects/markers, I was really in despair. But now I'm holding out for the amnio and hoping that there's no chomosomal problem. The perinatologist told me that those 5 physical defects were survivable/fixable, it that was all that's wrong. I know it sounds crazy, but I have to have that hope.

 

Skyeblue - May 18

Hi Yosemite. Drs can be callous and so nonchalant about a pregnant woman's feelings. When my dr gave me the "bad" news he was such an a s s. When I started to cry in his office he said he "did not have time for this." And said there is always is time "to terminate." Can I ask what the 5 markers were...? My dd was (according to the u/s and my stupid drs opinion) microcephalic (small head), small femur which "can be" soft markers for I guess downs and other problems. My midwife recommended me to her dr who had exactly opposite approach. She said that perhaps my dd is on the small side but that all else looks fine and not to worry. But somehow I feel we women are made to just believe male drs and big machines so I never got it out of my head that my dd can be normal. Even when she was born (at home) I was afraid to look at her because of fear something would be wrong with her! I absolutely understand you wanting to give your son a chance at life and to hold him. This is the deepest maternal instinct. It also seems natural to continue pregnancy and give birth as this is what your body is preparing for...When do you get your amnio results...? May I ask why you tested...? I decided not to as I knew I would not terminate at that point in my pregnancy. Also is yosemite because you are from there...? I have you in my thoughts!

 

yosemite - May 18

Thanks for your replies, Skyeblue. I've never been to Yosemite. It's the street I lived on as a kid :) My baby has a club foot, an underdeveloped jaw, no nasal bone, a choroid plexus cyst on the brain, and heart valves that are linear instead of offset. The reason I went for the amnio is because those defects, without a Trisomy 18 diagnosis, are definately survivable. With Trisomy 18, he will probably need a feeding tube and a ventilator. I myself would not want to live on a feeding tube and a ventilator, but when it's your child it's a different decision. Also, if he were to live like that, it's not like his condition would improve and I would have to make the difficult decision of when to remove those things. In the womb, he doesn't have to work and breathing and eating, and I feel like as long as he's inside me, he's comfortable. I am very worried about my ability to cope throughout this pregnancy. My daughter is already not acting herself, because I'm not. I do not think things will get easier as the pregnancy progresses (that is, if I don't miscarry). So there are moments I lean toward termination (if there amnio says there is definately T18) so that I don't prolong the inevitable. Sometimes I think his death would be more peaceful in the womb. Without the official diagnosis, which we should soon know, these are just the thoughts that go through my head, and they change every minute.

 

Skyeblue - May 19

Hi yosemite, I really feel for your family situation and although I can't say I have been in your shoes, I was in simliar ones. It was so hard for me to enjoy my pregnancy and feel happy as I always worried something was terribly wrong. I would go thorough phases of feeling absolutely positive that all would be well, then days of pure negative misery. The ups and downs were awful for my dd and husband as well...In your case, I would have done amnio too. I have done some reading on Tri 18 and you mentioned nothing of your son measuring small...? I can see your point that if Tri 18 is eliminated your son has a far greater chance at a decent life. To be honest, I am skeptical of these u/s diagnosis with soft markers. There is little science to it and basically relies so much on who and how much experience the person doing the u/s has. My former dr here is Switzerland was supposivedly a well renowned "expert" who was one of a few with this super duper hi tech machine...and he was wrong. Also when me estimated the weight of my 1st dd with his u/s, he was off by over 2 pounds. When do you get your results back!? Please hold onto your hope and let me know. I am thinking of you!

 

clindholm - May 19

yosemite- Although I only had one marker for T18 on my dd, they were wrong and she was ok. Did they look at your bloodwork as well as the u/s? It is so horrible hearing that news. The doc I had (not my doc, just the one at the hospital) was a total B****. She was mean and uncaring. The statistics say that most true T18 babies are lost in the first trimester so that brings down your chances of your little one having it. We did not opt for the amnio b/c of the risk of m/c. When do you get the results? Good luck and I hope you and your baby and entire family are alright through this time.

 

yosemite - May 20

We got the FISH results today, which are 99% accurate. We were told that our son has full trisomy 18, as well as Klinefelter's syndrome, in which he has an extra X chromosome. Our OB was very kind and tried to be as helpful as she could, but she just didn't have many answers for me. She'd never delivered a T18 baby, saying all cases she knew of were terminated. She did not pressure me to go that way at all, although I can tell that's obviously what the medical community supports. She has set up an appointment for us with a perinatologist for Friday or Monday, depending on when our amnio results come in. I hope to get some answers from him as to what our son's life would be like with the defects that he has. I would want to know if he'd need a feeding tube, a ventilator, things like that. Because if he is on support like that, there will come a day that I'll have to decide when to end those. I am hoping that that appt will help me gain some clarity so that I can choose the path of least suffering, for my son and my family.

 

clindholm - May 20

Oh, I'm so sorry for you and your family.

 

blessedwith4 - May 20

I'm so sorry about this. Pls see a fetal medicine specialist though before you do anything. Sometimes these regular OB's are wrong and do present all options properly. Things may not be as bad as you think. Good luck and hugs.

 

Skyeblue - May 22

Dear Yosemite, I am very sorry about the news. I understand if you are off line for a while. Please know our thoughts and prayers are there for you. And we will be here when you come back.

 

julie2007 - May 22

i am so sorry to hear you are having to go thru this - my God be with you & your family. i'll keep you in my prayers.

 

annab - May 23

so sorry yosemite...I've read many trisomy 18 stories and most mothers chose not to terminate the pregnancies and try to see their baby and spend as much time as they could with their baby even if it was for a few hours, days or months. You have to do what is best for you and your family..prayers your way...if you google trisomy 18...you'll see there is a community that exists to support you.

 

mousky - June 6

I know you are going through a really hard time at the moment, and you may have made your decision already, but there is a really good web site trisomy18support.org. There are some really sad stories, but also some lovely stories of children with full trisomy 18 living to teenage years, and living happy lives. I hope this helps a bit. My thoughts are with you and your family.

 

Heavenly hope - January 2

hi yosmite, i have recently found out about our baby girl having T18...i feel for you in your situation, and i am stil not sure about anything, I am stil tryin to grasp the heavy words as well.

This is my first site I have been on and actually responded to, and I am unsure as to what to say.i just wanted you to know that, I understand where you are with the whole wanting to hold your son, and that is also my decision with my daughter. 

 

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