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Trismony 13
My little girl was born October 6th 2009, her due date was November 8th 2009. My doctor took her at 35 weeks. She was 3 lbs. 1.oz and 16 inches long. She was taken to Childrens Hospital and later diagonosed with partial Trisomy 13 and has a life expectinacy of 6 months. My question is, when they do that genetic testing while you are pregnant, don't they test for that? Would that not have shown up? Should she have noticed that she was 16 when she was suppose to be 18-19???
During my first pregnancy after an ultrasound at 17 weeks because i thought i was losing fluid we found out the baby had trisomy 13. After going to a specialist it was confirmed along with a amniociestis but once they started showing me things on the ultasound it was obvious to my untrained eye that something major was wrong. I did not have any of the maternal serum testing done but I was told that NO Trisomy 13 would not have shown up in the testing, only way to diagnose it in utro was amnio done when certain abnormalites are found during ultrsound. We did chose to end the prengnacy and I was induced and delivered the babe at 19 1/2 weeks. We were given a 0% chance of survial because there was so much wrong. The amnio also confirmed that it was a "fluke" and not the hereditory type
I wish you the best, I can't imagine what you are going through. I think of my little angel everyday
I wish you the best, I can't imagine what you are going through. I think of my little angel everyday
ttyl,
Cindie (mommy to TJ, Trisome 21/down syndrome, EHK, preemie, heart baby, and soon to be mommy to Mason due Xmas 2009!)
Cindie (mommy to TJ, Trisome 21/down syndrome, EHK, preemie, heart baby, and soon to be mommy to Mason due Xmas 2009!)
oh hun first off CONGRATS on your lil girl! i'm so sorry your dealing with this. stay strong!!! Any trisome is tough, but trisome 13 and trisome 18 are two of the toughest problems.
Did they say if it's a balanced translocation or an actual trisome? (translocation is where part of the 13th chromosome is attached to another and that chromosome may be partially attached to the 13th....)
when they do the genetic testing, like the triple screen and all it's just an estimate. That and the nuchal fold and there are false positives AND false negatives that occur all the time. Unless you have invasive testing like an amnio or CVS then your not going to get a definite answer while pregnant. a level 2 ultrasound may show soft markers, and that would normally lead to them suggesting amnio or cvs (cvs is like an amnio but done between weeks 11-13 or so)
my lil man has trisome 21 or down syndrome. he's 14 months. we weren't part of the risk group sinc we were 21, but it happened. You need to speak to the genetic counsellor and find out EXACTLY what's going on. since they did genetic testing on her you can get a copy of the results legally. as far as I know, full trisome 13 is nearly always fatal, however... if she has partial trisome then she may not have some of those severe complications that come with a full trisome. You should look into a second opinion which you again can legally request. Ask them at the hospital to get you into contact with a local group in your area for trisome's.... there are other mommies Im sure who have delt with something very similar and can share their stories if you'd like.
also, look into personal counselling to help you handle things a little easier. it's a great tool to have and usually the hospital will have someone like that for you to speak to.
feel free to private message me anytime. I can send you my myspace link on private message if you like.
Did they say if it's a balanced translocation or an actual trisome? (translocation is where part of the 13th chromosome is attached to another and that chromosome may be partially attached to the 13th....)
when they do the genetic testing, like the triple screen and all it's just an estimate. That and the nuchal fold and there are false positives AND false negatives that occur all the time. Unless you have invasive testing like an amnio or CVS then your not going to get a definite answer while pregnant. a level 2 ultrasound may show soft markers, and that would normally lead to them suggesting amnio or cvs (cvs is like an amnio but done between weeks 11-13 or so)
my lil man has trisome 21 or down syndrome. he's 14 months. we weren't part of the risk group sinc we were 21, but it happened. You need to speak to the genetic counsellor and find out EXACTLY what's going on. since they did genetic testing on her you can get a copy of the results legally. as far as I know, full trisome 13 is nearly always fatal, however... if she has partial trisome then she may not have some of those severe complications that come with a full trisome. You should look into a second opinion which you again can legally request. Ask them at the hospital to get you into contact with a local group in your area for trisome's.... there are other mommies Im sure who have delt with something very similar and can share their stories if you'd like.
also, look into personal counselling to help you handle things a little easier. it's a great tool to have and usually the hospital will have someone like that for you to speak to.
feel free to private message me anytime. I can send you my myspace link on private message if you like.
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