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New here. Trisomy 18 or 13

bamadxoabamadxoa member
edited June 2015 in High-Risk Pregnancy
my high risk doctor checked me out two days ago. Said my daughters head is measuring small and so is her abdomen. Legs are normal. Please help I'm stressing out. We did blood work for genetic screening and won't get the results until Tuesday
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Re: New here. Trisomy 18 or 13

  • PlainJane8350PlainJane8350 member
    How far along are you? Since you know the sex, I'd imagine far enough that they've checked her spinal column already?
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  • bamadxoabamadxoa member
    Yes ma'am I'm 21 weeks today. At my anatomy scan I was 18 weeks and 3 days I believe and they didn't say that anything was wrong. So to my surprise on Monday ( my first visit with MFM) I got an ultrasound and they told me her head and abdomen was measuring small and that those are soft markers for trisomy 18 and 13 and that I needed to be tested @PlainJane8350
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  • PlainJane8350PlainJane8350 member
    edited June 2015
    I'm not familiar with trisomy 18, but I did lose my first pregnancy to trisomy 13. From what I learned, trisomy 13 (and from what I know of 18) pregnancies usually end in really, first trimester miscarriages. I had a missed miscarriage around 9 weeks, with the baby measuring 7. I had a D&C and we tested the "products of conception," that's how we received the trisomy 13 diagnosis. Not everyone is for genetic testing, but if you aren't against it, then I'd do the blood test. It's non-invasive. I did it with this pregnancy. In the meantime, I'd try not to worry. Ultrasound measurements are, unfortunately, very subjective and freak a lot of us out for what usually turns out to be no reason.
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  • bamadxoabamadxoa member
    I did do the blood work. I don't get my results till Tuesday. The wait is killing me !!! @PlainJane8350
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  • PlainJane8350PlainJane8350 member
    I've been thinking positive thoughts for you, @bamadxoa!
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  • bamadxoabamadxoa member
    Your so sweet !! Thank you. (: I will keep you updated and let you know the results ! @PlainJane8350
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  • PlainJane8350PlainJane8350 member
    Since I'm on couch potato rest and have nothing better to do I researched trisomy 18 in hopes of finding things that might make you feel better...and I think I did! Here are some things that are associated with it:

    - extremely low intrauterine growth percentile
    - heart defects
    - not just small heads, but abnormally shaped heads
    - clenched fists
    - similarly to trisomy 13, most of these pregnancies end in early miscarriage (in the first 12 weeks)
    - more likely in older women, I was 34 when I had my miscarriage due to trisomy 13

    Have you had one of those fancy 3-D ultrasounds yet?
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  • rklinge0rklinge0 member
    I had a mfm try and tell me that my baby had those too. But my ob reasurred me that there would be major organ defects and the bones are not only small but look weird. Most of them have major heart defects.
    If you haven't seen these I would try not to worry.
    I do know someone whose boy had it and she was 26 at the time.

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  • bamadxoabamadxoa member
    Yes I had a 3d ultrasound (: we got to see her suck her thumb and practice sucking. This last one she kept opening and closing her hand like she was waving. But that was at 16 weeks.
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  • PlainJane8350PlainJane8350 member
    That's great news! One of the things my doctor said they use the 3D ultrasound for is to check for abnormally shaped heads. They would have seen something and told you then. Also, if she was waving, then she does not have clenched fists. I think this is all leaving towards great news...
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  • PlainJane8350PlainJane8350 member
    P.S. If it makes you feel any better, her head doesn't look small to me either. My baby's head looks like a peanut compared to your baby's!
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  • bamadxoabamadxoa member
    I thought she had a big head too ! What really confused me was I got my anatomy scan around 18 weeks 5 days. They didn't say ANYTHING. My regular obgyn told me everything was fine. Two weeks later at my MFM appointment they told me her head was measuring 17 weeks and some odd days. Which would mean it was smaller than even when I went to the anatomy scan ultrasound !! Either way I should be getting a call today or tomorrow and an ultrasound next Monday (:
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  • bamadxoabamadxoa member
    She just called ! Everything came back normal. She said results were great. She can't so no for sure because I guess it's like 1 out of some crazy high number. She was able to confirm its a girl though. (: now looking into the possibility of IUGR @PlainJane8350
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  • rklinge0rklinge0 member
    Yeah that happened to me during my one of 9 u/s. One tech the week before had her head at 37 and when they redid it, said it was 34 when I was 36. Depending on the tech ultrasound measurement can be off.
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  • rklinge0rklinge0 member
    And glad your results came back promising for no trisomy 13 and 18!
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  • PlainJane8350PlainJane8350 member
    That's such a blessing, congratulations! We're having a girl, too. I don't know what IUGR is, but it's gotta be better than what they were telling you it could have been...right? Have y'all picked out a girl's name yet? Exciting!
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  • bamadxoabamadxoa member
    @PlainJane8350 we are naming her Everly Rae (: and it's in uterine growth restriction.
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  • SaerenitiSaereniti member
    I am in suspense about Trisomy 18 right now with my first baby. They didn't tell me what the soft marker was.. just that it could be at risk of it.

    I am so scared of it coming back positive.
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  • PlainJane8350PlainJane8350 member
    Sending you positive thoughts, too, @Saereniti!
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  • christina4436christina4436 member
    Any update with IUGR??
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