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Down Syndrome soft markers

mickduquettemickduquette
in Special Needs
Hi!

I'm currently 29 weeks with my second baby. At my 20 week ultrasound, they found a few abnormalities that we were told could be soft markers for Down syndrome. Today, I had a follow up ultrasound to get a closer look at what they saw. And they found a few more things, as well. 

She's got an echogenic cardiac focus, fluid on her kidneys, a short long bone in one of her arms, her torso is very small, and she's in the 9th percentile for weight. But I was told that her face has no visual abnormalities, and they're not seeing any hard markers for Down syndrome at all.

The doctor now wants to see me every week to check blood flow from my placenta to her (to rule out that as a cause of her being small), and for growth ultrasounds every 2-3 weeks until she's born. They offered to let me do a cell-free fetal DNA test, which I wouldn't mind, but my insurance may or may not cover it. Our other option, of course, is an amnio. 

Has anyone else had an amnio this late in pregnancy? I probably wouldn't be getting it for at least another week or two, so I'll be around 31, maybe 32 weeks. I really want to get it just so we can know whether or not she's got any kind of chromosomal abnormality, but the risk of preterm labor and infection are scaring the heck out of me.
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Re: Down Syndrome soft markers

  • PipSqueak0313PipSqueak0313 member

    I did the MaterniT21 test a year ago.  I don't know if my insurance ever paid anything toward it or not.  I had received notification that the insurance company was not covering it but I also never received a bill for it.

    Anyway, from my understanding, the test company bills insurance for a large amount (thousands of dollars) but even if the insurance company doesn't cover it and you have to pay out of pocket the most you have to pay is a couple hundred dollars.

    It was worth it to me to do the test last year.  We found out near the end of the first tri that ds did have T21 and it gave us time to prepare emotionally for his arrival.  We decided the test was accurate enough to accept the positive results without further testing.

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  • Assembly_ReqdAssembly_Reqd member
    I did not have an amino, but I would think that the dr performing it will probably have lots of experience. If you are in a smaller town, maybe a visit to a bigger city is in order to get a dr who has more late term amnios under their belt. The materniT21 will not catch issues such as deletions or duplications on other chromosomes. The amino could serve as a piece of mind as well as arm you with information that will inform your birth plan. Eg: You may want to be sure your hospital had the appropriate levels of NICU care or Pediatric cardiac resources if it turns out your baby needs them. Good luck! I hope everything turns out well for you. If not, well, you know where to find us!
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