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    Old 12-09-2016, 08:58 PM   #1
    marsha7588's Avatar
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    down syndrome testing

    I am 25 1/2 weeks pregnant. I had a third ultrasound on 12/6 which confirmed the absent bone, 2 Echogenic intracardiac focus in the left ventical of the heart as well as a club left clubbed foot. I was also told that my baby was measuring at 24 weeks and his head 23 weeks which was a concern. I was scheduled for 2 more ultrasounds on 12/21. I am confused since my NIPT test came back negative for trisomy , is there still a chance that my baby could have down syndrome or are the doctors looking for something completly different now? also, could the fact that I have RH negative blood type have any on the NIPT results?

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    Old 12-12-2016, 07:03 PM   #2
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    Re: down syndrome testing

    I'm so sorry that you are having to go through this with your pregnancy. It should be a happy time, full of expectation and joy.
    I don't have answers for what your doctors could be trying to do, but from what I read online, the NIPT test is supposed to be 99% accurate, if that is the case, then the doctors must be 99% sure your baby doesn't have DS.
    As a mom who had a baby with DS, I just have one piece of advice. Don't let this take away your joy of having your baby. Some tests are accurate, others are not. I've had friends and acquaintances whose babies were supposed to be born with one thing or another, who worried through their whole pregnancy, which turned out to be nothing. In my case, the tests showed up nothing and my baby was born with DS.
    I know another person whose baby was born with a blood clot in the brain, the doctors predicted the child would never walk, talk and would probably die. This child is now 5 years old and one of the smartest kids I know.
    It sounds like your child may be born with some abnormalities, so
    the best thing is to write down all your questions and put it where you can find it for your doctors appt. Then write down the answers that they give.
    After my baby was born, there were so many details that I started keeping a journal that I wrote in during all my baby's dr appts. This has helped me even now to look back on what happened and say, "Oh that's maybe why he does this now." Also you don't have to wait til your next scheduled visit. You can schedule an appt just for concerns. Start a file, and ask for all medical records from the different specialists. If your baby does have a problem, this will help you to understand what they forget to explain to you.
    During the pregnancy, there are some things you can do: try to relax and enjoy being pregnant. Realize your anxiety will carry over to your baby and your baby can hear you now. Try to love your baby as much as you can now, and sing to him. This will ultimately help your baby, despite any difficulties he/she may be having. Realize too, that your baby is in a completely protected bubble and your body is helping his body, so eat well, sleep well and he/she will feel better too.
    I'm sure you know all this, but this will help your baby immensely so that when he is born, you have given him the best start to his world that is possible. And then if he does have problems,you will have time to deal with them then.
    Best wishes to you and to your baby!

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