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August 2015 Moms
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High Risk Diagnosis from NT scan

Perfect SonnetPerfect Sonnet member
in August 2015 Moms

Has anyone here had any experience with a high risk diagnosis from your NT scan?  I had mine on Monday, and I was deemed high risk for down's syndrome based on my nuchal measurement (3mm), blood work (high Hcg, low PAPP), and age (32).  My chances are 1:17, which I know is only 6%, but it scares the crap out of me.  I realize this is a screening test based on statistics, but it is hard to hear things like this.  I am currently waiting for my MaterniT21 results, which are expected on Tuesday.

Just looking for reassurances and others' experiences...is it Tuesday yet?  Thanks.


 

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Re: High Risk Diagnosis from NT scan

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  • skinandbonesskinandbones member
    No experience but I'll be thinking of you.

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  • Perfect SonnetPerfect Sonnet member
    Thanks so much for sharing your experience, @jessandandy09.   


     

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  • LSquared3960LSquared3960 member
    I only have experience with the low Papp-A (which turned out to be totally fine, DS had no problems), but not the rest. Thinking of you!
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    Elliott Woodson due 8/2/2015!
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  • nininou19nininou19 member
    edited February 2015
    I'm actually thinking about whether or not I should do this test, I'm 25 and I don't know if it is very accurate. I'm afraid that the results will not be good and that I will freak out for nothing. I am totally thinking about you @PerfectSonnet because I just can't decide. It's so hard :( . I am in a real dillema here..
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  • Perfect SonnetPerfect Sonnet member

    @nininou19, I agree that this is a very stressful time after getting high risk results; however, I don't regret doing it.  If our baby has chromosomal abnormalities, my husband I would like to know ASAP as we will not be continuing the pregnancy.  However, if this isn't the same for you, not taking the test makes more sense.

    Also, I wouldn't worry so much being 25.  Apparently the older you get the more your risk goes up, and you're still very young.  My age related risk went up a lot for this pregnancy from what I had during my first pregnancy at 29.


     

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  • sailorgalsailorgal member
    Hoping your next results give you the comfort you need.
    Me: 32, DH: 33
    DS #1: April 2010
    DS #2: July 2015 (preemie born at 31 weeks) - our little miracle conceived through ART - unexplained secondary infertility/adenomyosis
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  • nininou19nininou19 member
    @Perfect Sonnet‌ I agree as I really don't see myself going through with this pregnancy knowing something is wrong. With my husband we decided to do this test and we will see. I truly hope your results are good, I think about you, sending good thoughts your way.
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  • Perfect SonnetPerfect Sonnet member
    Thanks @jessandandy09‌. It is our intention to confirm with an amino if our blood test results come back positive. However, I believe that the MaterniT21 is considered a diagnostic test as it gives a negative or positive result. Not just stats. My genetic counselor said it is 99.1% accurate, which isn't too far behind an amino. I would never, and would never encourage anyone to, terminate based on the stats received from an NT scan. I sincerely hope mine are not indicative of an actual problem.


     

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  • cowboys2009cowboys2009 member
    This sounds like what I am going through right now. The genetic counselor called me yesterday to say that for my age (33) my risk is 1 in 330, but due to my blood work they have bumped me up to 1 in 185. Obviously not a huge percentage at all but I also am having some chorion amnio fusion issues which can be an indicator of Downs. I go for the Harmony test on Monday and another ultrasound Thursday. Praying good things for all of us!
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  • mrsrfwiimrsrfwii member
    I'm sad to read that some of you would consider ending your pregnancy because something might be wrong with your baby. So just because your baby might not be perfect you'll just end it and not give the baby a chance. There are still beautiful children out there that are born with Down's Syndrome and other birth defects that can still thrive.
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  • Perfect SonnetPerfect Sonnet member
    Good luck, @cowboys2009‌


     

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  • mrsrfwiimrsrfwii member
    Perfect Sonnet said:

    mrsrfwii said:

    I'm sad to read that some of you would consider ending your pregnancy because something might be wrong with your baby. So just because your baby might not be perfect you'll just end it and not give the baby a chance. There are still beautiful children out there that are born with Down's Syndrome and other birth defects that can still thrive.

    This is a personal decision that my husband and I feel confident would be the best for our family. I have all the respect and admiration for people who raise down syndrome children. I expect people to similarly respect my decision to not enter that life should I be faced with the situation.
    I'm not trying to judge, I know it probably came off that way, but truth is I don't know you from Adam so I can't judge you, I don't know your situation. But that doesn't mean I don't have an opinion on the subject. I hope that your pregnancy turns out well.
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  • Miz_LizMiz_Liz member
    jessandandy09 said:
    @nininou19Perfect Sonnet
    just a recommendation to the ladies who are considering not going through with the pregnancy if their tests show abnormalities.  If this is your case, please strongly consider getting a diagnostic test first.  These are the tests that can tell you whether your baby has a health/developmental issue with certainty, not just statistic probability.  The two diagnostic tests are amniocentesis and Chronic Villus Sampling (CVS).  NO other tests can give you accuracy in results, they only give you "chances"

    This. I know of a few people who received false "positives" only to go on to have completely healthy babies. T&P
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  • cowboys2009cowboys2009 member
    Perfect Sonnet said:

    mrsrfwii said:

    I'm sad to read that some of you would consider ending your pregnancy because something might be wrong with your baby. So just because your baby might not be perfect you'll just end it and not give the baby a chance. There are still beautiful children out there that are born with Down's Syndrome and other birth defects that can still thrive.

    This is a personal decision that my husband and I feel confident would be the best for our family. I have all the respect and admiration for people who raise down syndrome children. I expect people to similarly respect my decision to not enter that life should I be faced with the situation.
    This. Every family situation is different. I'm a STM so I don't just have me, DH and baby to think about - I have a 4 year old who would one day long down the road when DH and I are gone have to assume responsibility for a mentally or physically challenged sibling. Just like with any child - it isn't just about me anymore.
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  • bashfulbirdbashfulbird member
    edited February 2015
    We just reviewed our options with the GC and we will be doing the Harmony without the NT scan, I feel like less is more when it comes to sonograms or invasive testing. We are getting the blood work, understanding its just a statistic of a probability and not a diagnosis. We don't want a CVS or amnio because well we are just not comfortable with poking around in there.
    FX for you Perfect Sonnet.
    Be the Change.
    Make no assumptions
    Take nothing personally
    Be impeccable with your word
    Do your best

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  • nininou19nininou19 member
    @jessandandy09‌ Of course I know there can be false positive and I will get every test that I can to confirm a possible bad result.
    And as I believe that of course there are wonderful families and children with down syndrome and other special needs, every situation is unique and it's just a very personal decision.
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  • mtxomtxo member
    Good luck with your results ladies. In my country the Harmony test costs $1,200 plus I went to a genetic specialist and told me to skip because if it is a pos, I'll have to do an amnio anyways. My nt results were 1:4000 though.
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  • fritz799fritz799 member
    The previous statements about the amnio and CVS are right. MarerniT21 is not a diagnostic test. My husband and I use it, along with the nuchal, to decide (with our OB) whether to do the amnio.

    We'd confirm any "bad" result with the amnio because, I'll admit it, we are not willing to carry a trisomy pregnancy to term.
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  • xcitdmommaxcitdmomma member
    jenandbrett said:
    I understand the pain and worry you are feeling right now. I am so truly sorry. I pray the results on Tuesday are nothing but good. Try to just live in this moment and distract yourself as much as possible. As you've as aid, these tests give false "positives" all the time.  You are stronger than you ever thought possible.

    I will not tell you what to do, but I can tell you I wouldn't give back the 3 hours I spent with my son for anything. The months of carrying him to term knowing he wouldn't live (bc of his birth defect, not downs) were pure torture, but looking in his eyes and squeezing him tight and introducing him to his family were so worth it. I realize that's not the decision you are facing, but I also know the indescribable pain of leaving him at the hospital and I have to caution you it is beyond unbearable.  I would take him back with Down's and kidney failure any day to take away that pain.  Again, no one can make the decision for you but there really is no "easy-out decision" in these cases.  I'm here whatever happens.

    I truly hope you get great results on Tuesday, but know you can pm me any time, before or after Tuesday if you need to talk.
    Bless you! This made me cry at my desk. :)
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  • buggurl84buggurl84 member
    Thank you for posting this! We also just received a 1 in 10 risk with a 3.1mm measurement on the sequential screen (im 30). Just took the maternit21 test yesterday, im so nervous for the results. I know its only a 10% chance but still freaks me out! We will follow up with an amniocentesis if these results come back positive. My husband and myself have both decided if their is a definite chromosomal defect we will also terminate. Good luck and prayers to all!
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  • jessandandy09jessandandy09 member
    Perfect Sonnet said:

    Thanks for everyone who offered me support and feedback on this thread.  It has been an excruciating 11 days, but we finally heard today that our baby is completely chromosomally normal...and is a girl!  We are so relieved and so happy. 

    I hope that everyone else who posted in this thread going through a similar experience also received great news from their testing.

    glad to hear your good news.
    Aug 15 April Siggy challenge: Baby Shower fails:


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  • puccagirl77puccagirl77 member
    edited February 2015
    My friend had a high risk because they couldn't find a nasal bone. Not sure of the numbers exactly, but her healthy son just turned 2!
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  • jenandbrettjenandbrett member
    I'm really glad to hear that @Perfect Sonnet‌ Congrats!
    Trigger Warning (LC and loss) -- 
    Married May 2008 
    Beautiful daughter Alyssa born April 23, 2011 
    Precious son Isaac born at 34 weeks in April 27, 2014 with Potters Syndrome Type 4 and Down Syndrome - trusted into the arms of Jesus after 3 hours.
    Pregnant again! Due August 8, 2015 please be healthy, little one!

      (results on 2/4/15 showed no Down's and it's a girl!) Lilypie Maternity tickers
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