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Trisomy 18 scare

number3herewecomenumber3herewecome
in High-Risk Pregnancy
I had a blood test that showed I have a 1:37 chance of having a baby with trisomy 18.  I have had 2 level 2 ultrasounds and the doctor hasn't found any markers for trisomy 18.  baby is measuring well and very active.  what I want to know is the chance of something still being wrong when the doctor hasn't found anything to make him suspicious.  Has anyone else had this experience?
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Re: Trisomy 18 scare

  • autumnbride07autumnbride07 member
    They thought my DS had Trisomy 18, but not because of blood work (I didn't have it done). He had clorid Plexus cysts on the brain which can be a marker. He is a perfectly healthy 14 month old now. We went through hell for nothing. Try not to get too worked up about it...I know it's easier said than done. There are people that are given a 1:4 chance and have healthy babies.
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  • plumerialostplumerialost
    We didn't do the screening this time just so we wouldn't worry for no reason, but I'm being followed by M/F and have had 2 level 2 ultrasounds and they have found the cyst on the brain that is a marker for it. BUT her hands are wide open, and they said if it really was Trisomy 18 her hands would be clenched closed. So, they say not to worry, that it should clear up. I'm keeping my fingers crossed.  I'm sure you have nothing to worry about.
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  • *kendrick**kendrick* member

    Our risk is 1:160 for NTD & Trisomy 18 based on high AFP at 15w and 16w. I know this is lower than your risk, but I can relate to the question you ask and the worry. After our level-2, we are feeling excellent. LO does have a bright spot on the heart which can be a marker, but since it is just one spot (not multiple) and there are no other defects it is pretty much ruled out for us.

    Here are some of the markers that would likely be visible on u/s:

    Clenched hands
    Crossed legs (preferred position)
    Feet with a rounded bottom (rocker-bottom feet)
    Low birth weight
    Low-set ears
    Small head (microcephaly)
    Small jaw (micrognathia)
    Underdeveloped fingernails
    Undescended testicle in boys (FYI-boys are are less likely to have T18 but more likely to give higher AFP)
    Unusual shaped chest (pectus carinatum)

    Because we only have this one marker (that isn't rare even in healthy PGs) we will most likely not do an amnio (we declined it previously). We are waiting to hear back from the genetic counselor on if she agrees that an amnio isn't worth the risk and to see if she will give us a new risk factor.

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  • amydixamydix member

    My quad screen came back with a 1:20 chance of Trisomy 18 despite normal ultrasounds and a normal Nuchols scan.  My doctor sent me to a perionatalogist who did another ultrasound (that looked normal) and then an amnio.  He said that 25% of the time, the ultrasound looks normal but the baby still has T18.  We wanted to know for sure and the amnio or CVS is the only way to have a true diagnosis.  We are waiting (ANXIOUSLY) for results. 

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