Special Needs

Down Syndrome Moms - Did you have soft markers?

Hi girls,

I am wondering what the chances of having a Downs child with no soft markers present.  I was given a 1:43 chance for downs after my NT.  The fold measured ok, but it must have been my blood work along with my age (35).  I don't know what the exact numbers were for my blood, but that is what must have put me over the edge so to speak.  I did have an amnio, but my amnio didn't work.  The cells didn't grow, and when I asked about testing the fluid for a FISH after the cells didn't grow, the nurse said they can't do that.  They couldn't do the FISH first because they didn't get enough fluid.  I am trying to decide if I should do another amnio or not.  I was nervous the first time because of the miscarriage risk and I just had a m/c back in Dec.  But, since my odds for Downs were higher than the risk of m/c was, we decided to do it.  But, do I risk m/c again and then have the cells possibly not grow again?  I also had an ultrasound when they did the amnio and no soft markers were found.  I will have another ultrasound on Friday and am wondering what the chances of downs with no soft markers.  If they don't find soft markers, maybe I shouldn't do another amnio.  Oh, I just don't know.  I know when I meet with the genetic counselor, they will give us advice too, but I am just a planner.  I am a teacher, so I plan everything!  We wouldn't terminate if we do have a DS baby, but I need to plan!  I need to get my mind together - if you know what I mean.  Hmmm.  What to do?  Any advice would be greatly appreciated.  Thanks ladies!

Baby #1: 19 cycles, failed IUI, and 1 + IVF 3-5-07
Baby #2: 12 cycles, 1 failed FET, natural miracle but m/c at 9 weeks then another natural miracle that stuck! 9-30-09

TTC #3 - 4 cycles - no BFP yet!

Re: Down Syndrome Moms - Did you have soft markers?

  • amajaneamajane member

    Marley doesn't have DS but she does have some unknown genetic syndrome. We had some?abnormalities?show up in our 18 week fetal survey although the NT, blood tests and amnio were all normal.

    My point is that even if you learn by tests that your baby is okay doesn't mean that he or she won't be born with some genetic syndrome, have a birth injury or develop autism by the age of 2.

    You can't plan. You can't know everything. Pregnancy and having kids is a crapshoot. You're taking a risk having a baby and at 35 your odds for having problems in higher than if you were in your 20s.

    So if I were you I wouldn't do another amnio if you're not going to terminate. And stop trying to plan. Because God laughs at you and will mess with you if you try to do that.?

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  • if you're not going to terminate then i wouldn't go through the amnio and risk m/c and cells not growing again. ?they found no soft markers with my son and since we refused the amnio as it didn't matter to us, we didn't know until he was born that he has Down syndrome. ?for me thinking back i wouldn't change our decision. ?it was hard being a first time mom and having to go through the grieving process of not having a "typical" child, but it was much easier to go through it while looking at and holding my baby. ?plus IF your child does indeed have Down syndrome, ?you can't really plan what it will be like as like all children, they are all different. ?one child may have problems feeding while another may not. ?the hospital i was at was very quick at getting my son an echo cardiogram as soon as he was born just in case he did have Down syndrome (nothing is confirmed until they run a bloodtest). ?good luck with your decision!!
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  • We didn't have any soft markers show up on our ultrasound but we went ahead with the amnio and DD does have DS. Im sorry you had such trouble with your amnio. I haven't heard of that happening before. My dr. did tell us there was a chance that they would get my cells instead of the babies but that was an unlikely chance. Good luck with whatever you decide. I don't know what I would do in your situation b/c we were discussing termination. We have since decided against it, but it was one of the reasons we did the amnio in the first place besides knowing for sure.
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  • Hi BW.. I've been poking around over here as well.....

    The no-growth thing, to me, is more concerning than a Downs diagnosis.  But I don't think I'd do a second Amnio.

    So you're 1:43 for Downs.   Put it in a percentage.   1:43 is only about a 2 percent chance, if I've done my math correctly.  So 2 kids out of 100 may have Downs.   Or 98 out of 100 will not.  

    For me, I have to keep it in those kinds of numbers to keep my sanity.  I'm rated 1:5 and still leaning toward no Amnio.  But I'm a few weeks away from my U/S and Amnio decision.

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  • I am so confused...I don't know what to do I am 29. My blood work (first trimester screening nad Quad ) Have come back normal.. All other test seem normal.. But his kidneys were dilated during 18 week u/s.. Just did a level 2 today.. I am 20 weeks and 4 days.. Everything looks completely normal.. But doctor says there still may be down syndrome.. Was not given any ratio.. Should I be worried. or just wait until next u/s in 6 weeks..
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