Hello all ... just got a call from my doctor about my first look test and my risk assessment for trisomy 13, 18 & 21. While my risk for trisomy 13 & 18 (the worst) is great... 1 in 7000. My risk factor wasn't as good for trisomy 21 (downs syndrome). It's not horrible, and I don't remember the numbers, but it's slightly better then my age risk. I am 36 and I think my age risk is 240, while my risk assessment after the test (again I think) is 246. I didn't write the numbers down because they have sent them to me, just waiting on the mail. I know I will opt to do the blood work at 15 weeks before deciding on an amnio, but I really thought I'd get a great number back and not have to worry. I also always thought I wouldn't consider an amnio because it wouldn't change anything that I'd do, but as the doc said ... the birth is a lot more fun for you and your family if you know you are having a baby with down syndrome then if it's a surprise. Ah... STRESS!!!
So, anyone have any insight for me? Any similiar experiences?
Your risk is very low. you DID get a great number! My # is 1:100 with each baby I have and I"m only 23. my first son has down syndrome (he was born when I was 21)
your risk is LESS than %0.5. If you are going to keep your baby no matter what then I don't think you should get the amnio. Get a level 2 ultrasound where they can check for many soft markers.
I had amnios with both my baby boys due to a skin disorder that I have that can be inherited. it's a %50 for each child and I was checking because babies born with EHK can die of infections and I wanted to know if I should get a csection or not (to help not expose him to bacteria)
there's a %25 mortality rate for babies with my skin disorder.
We found out first that he had down syndrome, then we found out he had EHK, and the day he was born we found out that he had 3 holes in his heart and would need open heart surgery in the future.
But I'd do it all over again to get my little man!
Feel free to message me with any questions or if you want to talk. I"m very open and give honest answers. I don't judge and nothing is too personal for me.
here's a link to my journal about testing for down syndrome:
Early in my pregnancy, I thought I would terminate if I found out my baby had downs. I knew from the beginning that I would have CVS or Amnio. I feuded to skip CVS and schedule Amnio for 15w6d. By the time that date arrived, I was so attached to my baby that downs would nit have lead me to terminate, still I wanted to know. If my baby had downs, I wanted time to prepare myself for my special needs baby. If my baby was fine, I knew I would enjoy the remainder ify pregnancy and not stress over the possibility. So, I had my Amnio which was a piece of cake and I got the FISH results in 2 days. No downs or trisomy 13, 15, or 18! In just 7 days, I had the complete chromosonal results. All normal. I was told the risk of MC was 1 in 350 to 500. My Amnio was done under continuous ultrasound and I had my own monitor to observe the ultrasound and the procedure. It was all very reassuring.
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