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Heart Valve and Down Syndrom Risk

chloebeth930chloebeth930 member
in High-Risk Pregnancy

I hope that this is ok posting this question here.  If it is not and is offensive, please let me know and I will try and delete it as soon as possible.

My MIL just called me really upset.  My SIL is 20 weeks pregnant and had her u/s last week.  The doctor called her today and mentioned something along the lines of the baby only having 2 or 3 valves (I don't know exactly since I heard it second hand from my MIL) and that they need her to come in and get some blood work ran because that is a risk factor for Downs.

My SIL is really upset and confused and so is my MIL.  I think they are just struggling because they don't know what any of this means (my SIL's doctor did not explain it very well to her and she was too upset to ask). 

I would like to help them but can't seem to find any information on this.  Does anyone have any familiarity with this?

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Re: Heart Valve and Down Syndrom Risk

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    FasaFasa
    Hello. I'm a lurker here (actually because of the very reason that you are posting.). At my 20 wk ultrasound we had the same results. The ultrasound tech was only able to tell us that she saw only 2 cords on the ultrasound and that it is associated with other problems. (She didn't see anything elsevthat stuck out but we would need to have a higher grade ultrasound to confirm.). My doctor refered us to a MFM specialist as they said they wanted to get better measurements of the heart etc. This a ppt wasn't until three weeks later which was brutal as I started reading on the Internet. My husband and I weren't going to talk to anyone before we got our results but I ended up talking to a good friend of mine who said that her daughter only had two cords and was fine (just a little small). Then I was talking to my DH's cousin and it came up because she said that her 1st daughter was diagnosed with only 2 cords and she ended up being fine. The more that I read, I saw that it 'can' be associated with other problems. bUT it doesn't mean that there are other problems. If there aren't other markers then she will most likely just be monitored more to make sure that the growth is in track. When we finally had our MFM a ppt we found out that the original ultrasound was incorrect and that there was three cords... It still doesn't stop me from trying to read as much about it as possible... Hence my lurking...
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    Pelusa214Pelusa214 member

    My quad screen came out at elevated risk for DS, so we were sent to a perinatologist for a more accurate u/s and to discuss an amnio.  We decided against the amnio because we were keeping the baby no matter what, and the risk of miscarriage from the amnio was only slightly lower than my chance of DS.

    So, they continue to monitor the baby periodically for growth, etc.  But I will tell you that they told me that 20 weeks was still too early to get a really accurate look at the heart.  I had to go back a few more times, and each time they look at the heart and it's fine, thankfully.  I'm not a doctor, but just because heart problems are common in babies with DS doesn't mean that all babies with heart problems have DS. 

    I understand their fears, as I've been worried all along about my baby having DS.  DH has been able to put it out of his head & hope for a healthy baby, but I can't stop worrying.  The genetic counselor told me that if I was worried about the risk of miscarriage from the amnio, I could have a late amnio at 32+ weeks, and if anything happens, I'll just have a preemie instead of a miscarriage, and I'll be able to know for sure before the baby is born.  That's something they could think about, too.

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