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Trisomy 13/18
Hello,
My wife and I are 14 weeks pregnant! However we went to a high risk doctor because my wife was born with omphaleses(sp) and several other complications at birth. She is completely fine and healthy but doctors felt it was necessary to consider her a "High Risk". We both agreed that we should do this for our own comfort and so we could monitor the situation closely. So last week we had a special type of ultrasound to check the fluid of the baby's neck and listen to the heartbeat. The ultrasounds before this had been completely normal as was this ultrasound. Doc said he was 95% sure that it was a boy, much to my delight, and said that everything looked great!!!! So they then take my wifes blood and we get a call yesterday with the results. Low risk for Down Syndrome but the Trisomy 13/18 cam back at a 1 in less than 5!!!!!!! HUH?????? Just dont get how everything can be going so well and then BOOOM!!! We have planned to do the Amniocentesis as we want to know what we are up against. With a 1 in < 5 percentage what are we realistically looking at? My wife for all of her life has baffled doctors and defied all odds with her past and she keeps telling me that she knows or can just feel that the baby is just fine and not to worry. She can be a rock sometimes but i know deep down she is just as scared as i am. Please help me understand!!!!
My wife and I are 14 weeks pregnant! However we went to a high risk doctor because my wife was born with omphaleses(sp) and several other complications at birth. She is completely fine and healthy but doctors felt it was necessary to consider her a "High Risk". We both agreed that we should do this for our own comfort and so we could monitor the situation closely. So last week we had a special type of ultrasound to check the fluid of the baby's neck and listen to the heartbeat. The ultrasounds before this had been completely normal as was this ultrasound. Doc said he was 95% sure that it was a boy, much to my delight, and said that everything looked great!!!! So they then take my wifes blood and we get a call yesterday with the results. Low risk for Down Syndrome but the Trisomy 13/18 cam back at a 1 in less than 5!!!!!!! HUH?????? Just dont get how everything can be going so well and then BOOOM!!! We have planned to do the Amniocentesis as we want to know what we are up against. With a 1 in < 5 percentage what are we realistically looking at? My wife for all of her life has baffled doctors and defied all odds with her past and she keeps telling me that she knows or can just feel that the baby is just fine and not to worry. She can be a rock sometimes but i know deep down she is just as scared as i am. Please help me understand!!!!
T18 is Edwards syndrome and unfortunately is a deadly trisome. Trisome 13 is also a trisome that babies don't survive having. I think the survival rate at 1 year old is %1
with a 1:5 chance your odds are %20 of having a baby with a trisome 13 or 18.
The blood test that detects risks for trisome's is only really accurate at giving odds of trisome 13, 18 or 21 not all of them. it's NOT accurate when it comes at giving multiple odds. it's also not a blood test that's positive or negative it only indicates your odds of having a baby with a trisome/genetic problem
Something else, The special ultrasound you had is called an NT measurament or Nuchal translucency.
the test is supposed to be done between 11-13 weeks. The closer to the 12w mark the more accurate it is. I would say that since it was closer to 13w that there is a decent chance that your test results weren't super accurate.
I too have a son with down syndrome, and I had an amnio to diagnose it but we were checking for another genetic problem and were very suprised that he had down syndrome. I hope everything has turned out ok with your baby.
with a 1:5 chance your odds are %20 of having a baby with a trisome 13 or 18.
The blood test that detects risks for trisome's is only really accurate at giving odds of trisome 13, 18 or 21 not all of them. it's NOT accurate when it comes at giving multiple odds. it's also not a blood test that's positive or negative it only indicates your odds of having a baby with a trisome/genetic problem
Something else, The special ultrasound you had is called an NT measurament or Nuchal translucency.
the test is supposed to be done between 11-13 weeks. The closer to the 12w mark the more accurate it is. I would say that since it was closer to 13w that there is a decent chance that your test results weren't super accurate.
I too have a son with down syndrome, and I had an amnio to diagnose it but we were checking for another genetic problem and were very suprised that he had down syndrome. I hope everything has turned out ok with your baby.
Hi there,
My husband and I have a son with Down syndrome (Trisomy 21) and did a little research about T13&18. Have you had any further information since your last post? Have you had the amnio? We had our amnio, and that is how we learned of our son's Dx. Whatever has been going on for you, my thoughts are with you. Please keep us updated.
Sandi
My husband and I have a son with Down syndrome (Trisomy 21) and did a little research about T13&18. Have you had any further information since your last post? Have you had the amnio? We had our amnio, and that is how we learned of our son's Dx. Whatever has been going on for you, my thoughts are with you. Please keep us updated.
Sandi
I don't know what 13/18 means. Trisomy 21 is downsyndrome. But in any event especially having to do with a birth event. My opinion is God doesn't make mistakes and if he is allowing you to have a child with this condition it is His will. He doesn't give us more than we can handle so He must think you can. I will pray you make the right choice.
God Bless You
Jane
God Bless You
Jane
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