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Elevated Risk for Down's Syndrome

brittneygeebrittneygee member
in High-Risk Pregnancy
I'm only 14 weeks along, and this is my fourth scare. Today I learned I'm "high risk" for Down's Syndrome after my NT scan showed a risk of 1:240 for T21. My OB will perform a free cell DNA test on Monday for more accurate results.

The nuchal fold was normal. It's my bloodwork + age that put me in the elevated category. I was really hoping for a break from the worry after learning I was in the intermediate range for Fragile X and then being diagnosed with a SCH, which was growing at last look.

I know that 1 in 240 risk means a 99.58% chance baby is fine, but I'm so exhausted from all these scares. I'm barely out of my first trimester and I've already seen a genetic counselor, been to the ER thinking the worst due to the hemorrhage and now this.

I suppose I'm just seeking reassurance. I have an anxiety disorder and this pregnancy at an "advanced maternal age" has really kicked it into high gear. I want to find calm for my little one and for myself as well. It's just very difficult when I get calls like the one I got today. Any advice or words of wisdom would be greatly appreciated.
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Re: Elevated Risk for Down's Syndrome

  • RedwingchicaRedwingchica member
    Sorry you're going through this and everything else you've been through. With my current pregnancy we came back as high risk (1:95 chance) for Down Stndrome based on the combination of results from three screenings in the first and second trimester. We ended up having an amino and everything came back normal. My best advice is to think positively or try not to think about it. I tried to lose myself in my work when I was waiting for the test results. I hope everything comes back showing your baby is healthy! Hugs!
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  • CourtJackCourtJack member
    1 in 6 odds here - and NIPT confirmed absolutely nothing wrong. No T21, 18 or 13. My nuchal fold was 4.0mm and I'm 36. I'm sorry you've had a rough pregnancy so far - I was in a similar situation during my first tri - it's awful and takes a lot of the joy out of being pregnant. But you're right in that most likely, everything is ok. Hoping your test results come back good (and fast!).
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  • brittneygeebrittneygee member
    Thank you so much for these replies, ladies. It's so comforting to hear from others. <3
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  • Ceridwen77Ceridwen77 member
    The screening test you had is outdated IMO and you should have been offered the cell free DNA test from the start. I've read lots of stories about moms who were given high chances of having a baby with a genetic disorder with that first trimester screening, later to get the more accurate cell free DNA test or a diagnostic test (amino or cvs) to find out nothing's wrong. I know it's easier said than done but try to relax until you get you cell free DNA results. 
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