October 2016 Moms

quad screening results

I am 18 weeks and just got my quad results with a positive downs screening with a risk ratio of 1:247. I was supposed to go for my anatomy/gender ultrasound on May 13th but now I have to get a level 2 or what my doc calls a MFM with counseling. MFM is maternal fetal medicine where they assess pregnant women with any type of increased risk and "genetic counseling" for them to interpret the ultrasound results. I have looked at other sites and so many other women have had the same issue and same stress with lower ratios than us. They all recommend that we look at the glass half full. With my ratio its 99.6 % chance that my baby will be just fine. Its still hard to deal with as I am waiting to set up my level 2 ultrasound. I am the type of person who wants to have the ultrasound done asap. I don't think I will do any amnio due to the risks but if any of you have any positive advice or comments that would be great! happy thoughts to all!

Re: quad screening results

  • So sorry you're going through this and are in limbo. 99.6% are really good odds so try to focus on that. Did you have an NT scan, if so, what were the results of that? The waiting sucks, I'm sorry :( Hang in there! Sending T&Ps your way!

    Me: 32 & DH: 37
    Married: November 2014
    TTC #1 Since: October 2015
    BFP #1: 11/18/15 - CP
    BFP #2: 2/8/16 - EDD 10/20/16
    IT'S A BOY!!!!
    DS Born 10/16/16

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  • zuzu87zuzu87 member
    Positive thoughts and prayers for you. Im sure baby will be nice and healthy!!!!
    Pregnancy Ticker
  • FemShepFemShep member
    Have you thought about a free cell fetal DNA screen?  It's a blood test, so there's no risk to baby, it's got much higher screening accuracy than an AS or ultrasound, and you'll get results in about 10 business days.  There are a number of tests by different companies; common ones are Verifi, MaterniT21, and Harmony.
  • Similar situation but during my NT scan- the scan number itself was fine, but the bloodwork put me at 1:45 for DS (2% chance). I did go through with the CVS procedure since the risks were less than my chance of DS and bc I'm the kind of person that needed to know and plan for what the results could have been (Also I couldn't wait 6 more weeks for an amnio). Results came back normal and the end result was that sometimes the levels are just wonky and in my case, there is a chance my placenta may not be supplying enough nutrients to the baby after 28 wks so extra growth ultrasounds were recommended. I am not of advanced maternal age (only 29) and there was no history of DS in either families and we are not carriers for anything based on the Recombine test. I know it's stressful to hear that things aren't considered "normal," but do what you think is necessary to give you peace of mind. The genetic counselor we had said it's just a risk based on your levels compared to other women's data that is not to most current but that they had to tell us. My OB actually recommended against following up with the second tri quad screen and just doing the anatomy scan. 
  • I'm sorry about the stress. False positives are crazy high and it sounds like you have pretty good odds to work with. I am someone who needs to know, so I would definitely go with the amnio - but I respect not wanting to risk it. Anecdotally, I have a close friend who had multiple test results that predicted DS, and her little girl is developmentally totally normal.

    FemShep said:
    Have you thought about a free cell fetal DNA screen?  It's a blood test, so there's no risk to baby, it's got much higher screening accuracy than an AS or ultrasound, and you'll get results in about 10 business days.  There are a number of tests by different companies; common ones are Verifi, MaterniT21, and Harmony.
    Unfortunately this isn't how the medical establishment works. While it would be nice to see what a different test has to say, NIPTs are expensive and would be considered by insurance to be redundant at this point (and therefore would need to be paid out of pocket if pursued). The next step would be amnio. 
  • FemShepFemShep member
    I'm sorry about the stress. False positives are crazy high and it sounds like you have pretty good odds to work with. I am someone who needs to know, so I would definitely go with the amnio - but I respect not wanting to risk it. Anecdotally, I have a close friend who had multiple test results that predicted DS, and her little girl is developmentally totally normal.

    FemShep said:
    Have you thought about a free cell fetal DNA screen?  It's a blood test, so there's no risk to baby, it's got much higher screening accuracy than an AS or ultrasound, and you'll get results in about 10 business days.  There are a number of tests by different companies; common ones are Verifi, MaterniT21, and Harmony.
    Unfortunately this isn't how the medical establishment works. While it would be nice to see what a different test has to say, NIPTs are expensive and would be considered by insurance to be redundant at this point (and therefore would need to be paid out of pocket if pursued). The next step would be amnio. 
    The OOP cost for MaterniT21 if your insurance won't cover it is $235. Personally, I'd pay that to avoid an amino. To each their own. 
  • Thinking about you! Please keep us updated. 
  • FemShep said:
    I'm sorry about the stress. False positives are crazy high and it sounds like you have pretty good odds to work with. I am someone who needs to know, so I would definitely go with the amnio - but I respect not wanting to risk it. Anecdotally, I have a close friend who had multiple test results that predicted DS, and her little girl is developmentally totally normal.

    FemShep said:
    Have you thought about a free cell fetal DNA screen?  It's a blood test, so there's no risk to baby, it's got much higher screening accuracy than an AS or ultrasound, and you'll get results in about 10 business days.  There are a number of tests by different companies; common ones are Verifi, MaterniT21, and Harmony.
    Unfortunately this isn't how the medical establishment works. While it would be nice to see what a different test has to say, NIPTs are expensive and would be considered by insurance to be redundant at this point (and therefore would need to be paid out of pocket if pursued). The next step would be amnio. 
    The OOP cost for MaterniT21 if your insurance won't cover it is $235. Personally, I'd pay that to avoid an amino. To each their own. 
    I suppose that's true - (I haven't looked it up myself), but you will still need a prescription (which may or may not be easy to get after a positive quad screen). Depends on how cool your OB is.
  • agogo1agogo1 member
    @sareed2583 you can work directly with Natera (testing company) to get the Panorama test (it's one of the fetal DNA tests, like MaterniT21, etc. that @FemShep mentioned). Your doctor will have to sign their form (you don't need a prescription) but they should be able to do that same day via fax or email/scanning. My insurance does not cover it and their max out of pocket is between $100-$200. Their customer service absolutely fantastic and can answer all of your billing/pricing questions and they even sent someone to my house to draw my blood free of charge. It was a very easy and stress-free process.
    BabyFruit Ticker
  • NoraAuroraNoraAurora member
    edited May 2016
    I'm not trying to split hairs or stray off topic here, truly, but- that's still a doctor's order (prescription). 
  • Thanks ladies for the feedback! I am on 32 but had a miscarriage back in November at 6 weeks which could have put me more at risk but I feel pretty positive that all will be fine when they do the level two ultrasound, there have been so many stories from women that have had way worse ratios and numerous false positives etc. and have been fine as well. The nurse I spoke to at my ob office mentioned the rate of high false positives as well as my actual doctor.  Just gotta stay stress free and think positive and know that no matter what everything is going to be just fine :) thanks again ladies!
  • wishing you all the best @sareed2583
  • Getting my level 2 ultrasound today! Excited but nervous at the same time. Had to meet with genetic counselor which felt like at total waste since I'm a nurse and pretty much know the deal. all the asked was about family history and options for additional testing if we want. My husband felt a bit more informed which was good. Fingers crossed that baby is growing perfectly! Thanks for the support ladies!!
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