2nd Trimester

NT scan normal, but doc is concerned about Downs

We had a NT scan last week, and the baby had a measurement of 1.5. The doctor was very happy with the results, and did the normal bloodwork screening for any other abnormalities.

The results of the bloodwork came back yesterday and the doc left a message that there is a 1 in 237 chance of this baby having Downs. In his message there was another test we could take that would be 99.1% accurate to tell us yes or no.

Of course we will take the test, but I am still a nervous wreck over it. To me 1 in 237 aren't the greatest of odd considering my son died of a heart defect that occurs to 1 in 10,000 people.

I need some words of encouragement. Anyone have a similar experience and have a good outcome?

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Re: NT scan normal, but doc is concerned about Downs

  • We had great NT scan results and our blood work was fine for the first round of testing. Then we had the second round of blood work and came back with a 1:269 chance of Down Syndrome. We had a follow-up anatomy scan that showed all of our baby's organs functioning perfectly and her growth was right on track, so the doctor says that has pretty much put us in the clear. We will have one more ultrasound in two weeks to confirm. Otherwise, they can do an amnio, but we opted not to (and the doctor agreed we really didn't need it) because the risk of miscarriage was too high for us. Good luck!

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  • We had a similiar experience.  Our NT scan came back great but the bloodwork came back 1:49 chance.  We did a CVS and baby turned out great.  I wouldn't worry too much about it....the blood test is highly inaccurate from what I read online and alot of women don't really like that test.  The only reason mine was off because my HCG level was higher than normal.....IVF tends to do that to pregnant people.  I wouldn't worry too much though....
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  • I hope that everything works out for you. I would try to remain calm until you go for further testing because everything could be ok. 

    I just wanted to say that I can't believe that your doctor left that info in a message.  He should have had you call back so he could explain things to you better.


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  • We had a higher measurement (still in the normal range though) and perfect blood but my odds were worse than that. At our 20w a/s they checked all of his organs and everything looked great. The NT scan is NOT a diagnosis. I wouldn't worry too much at this point.
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  • I know those numbers sound scary, but keep in mind that is still less than one half of one percent chance. Did they see a nasal bone?

    We had the MaterniT21 blood test and were very pleased with it. It's far less invasive than a CVS or amnio, and they were able to drop our chances down to 1 in 10,000 and tell us the baby's sex.

    I know it's hard, but please try not to worry. Your baby is going to be healthy and beautiful and perfect.

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  • I can't imagine how hard this must be for you considering you lost your son. I am so sorry for your loss.

    I was never given odds because the NT measurement was high so we didn't send in for the bloodwork portion. Of course we were scared to death from the scan, and not knowing what the odds were made it feel even more unknown. We got the MateniT21 and results were negative. It only took a week to get the results which was pretty amazing. I'm hoping you have the same result. I'd say get the test ASAP because then you'll have your answer soon.

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    We had the MaterniT21 blood test and were very pleased with it. It's far less invasive than a CVS or amnio, and they were able to drop our chances down to 1 in 10,000 and tell us the baby's sex.

    I knew this was possible, but didn't know they would release that information. I heard they weren't supposed to/allowed to? Interesting.

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  • I don't have personal experience, but my friend was told her son would have Spina Bifida (sp?). She was freaked out and crying for awhile. I felt so bad, especially since she got the call from her OB's office while she was here at work :(

    Her son is 6 y/o and he is absolutely fine :) Those tests aren't a diagnosis of anything. I have heard many stories of other mom's who received all kinds of positive results for things their LO did not have. GL!

  • A lot of those blood tests come back with a falsely high reading.  You most likely don't have anything to worry about, though I understand your concern due to your history.  But please remember that many women get what docs consider an "increased risk" from these older tests and go on to deliver healthy babies. The other blood test your doc recommended is probably either the Harmony Test or the MaterniT21- both are considered 98+ percent accurate in predicting downs or certain trisomys.  Have the other test and get some peace of mind.

     

    Also, I am so sorry about the loss of your sweet baby boy. 

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  • imagejulesverne:

    We had a NT scan last week, and the baby had a measurement of 1.5. The doctor was very happy with the results, and did the normal bloodwork screening for any other abnormalities.

    The results of the bloodwork came back yesterday and the doc left a message that there is a 1 in 237 chance of this baby having Downs. In his message there was another test we could take that would be 99.1% accurate to tell us yes or no.

    Of course we will take the test, but I am still a nervous wreck over it. To me 1 in 237 aren't the greatest of odd considering my son died of a heart defect that occurs to 1 in 10,000 people.

    I need some words of encouragement. Anyone have a similar experience and have a good outcome?

    First, I am so sorry about the loss of your son (his picture is adorable). Second, I'll edit my post to add the link if I can find it again, but being an older FTM, I have read a TON about testing. Somewhere in my reading I came across some reputable articles about the first-trimester screen that said the NT scan, if performed properly by a trained sonographer, was actually a better predictor of whether or not there would be a problem with the baby than the accompanying bloodwork (as a PP said, IVF can throw off your hCG levels, for example, skewing the results). So to me, that means that your extremely good nuchal measurement of 1.5 speaks louder than your not-so-good bloodwork. Also, consider the fact that the first-trimester screen has a 5% (FIVE PERCENT! That is 1 in 20!) false positive rate, i.e., they falsely label someone as "high risk" or "has a problem" when it is not true, causing the mother to worry over nothing.

    So I would go ahead and get the MaterniT21 test (that is the test your doctor is referring to). It's just a blood draw, so it is totally non-invasive. The odds are overwhelmingly in your favor that the MT21 will come back negative--and that test is 99.1% accurate. It's the next best thing to an amnio. I took the MT21 and am currently waiting on results. I got my first-tri screen results back yesterday and they were better than I expected, but frankly, the numbers tend not to be all that great when you are 41 and pregnant. (My Down's number was 1 in 474 and I felt like I won the lottery.) So I feel like the MT21 will be a huge relief for me when it comes back.

    I guess the only other thing I can add is that a good friend of mine, who was 34 when she got pregnant, had risk numbers that were worse than her age would have predicted (i.e., her "before" number was 1 in 275 and her "after" number was 1 in 128 or something like that). She led a really healthy lifestyle and she was just horrified. So she got an amnio (MT21 wasn't available back then). No problems were detected and she now has the world's healthiest and most active five year-old.

    The odds are still greatly in your favor. Please update and let us know how things turn out.

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  • After my bloodwork, I came out as 1:38 chance of LO having Downs.  We decided to go ahead with the amniocentesis because our risk of Downs was higher than our risk of miscarriage.  Thankfully everything came out okay!  My understanding is that the bloodwork can bring in a lot of false positives.  Here the Maternti21 isn't available, but if it was I would have just taken that blood test instead of the amnio.  Maybe try doing that test first? 

    It was the most nerve-wracking part of this pregnancy (besides all of the spotting I had in 1st tri).  But the way I chose to look at it was that if my LO did have Downs, we would be mentally prepared to be strong for her and to be there for her.  T & P are with you during this difficult time.  I've been there!  Just know that whatever the outcome, you and your LO will make it through! 

     

  • I had similar results with both the NT and the anatomy scan:  scans were perfect, blood tests (which have to factor in things like age, etc) showed a risk.  We got the Harmony fetal blood test, and our chances were reduced to 1:10,000.  I'd say go for the Harmony or MaterniT21 tests - no risk and will probably bring you peace of mind.  (although not all insurance covers them).
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  • No experience but wishing you the best!
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  • This happened to us 5 years ago when I was pregnant with my son. The ultrasound measurement was perfect but the blood results were really bad, 1 in 20 chance of downs. We went ahead with the amnio and had an agonizing couple weeks but the results were great and now we have a very healthy child.

    Good luck! Wishing you and your family all the best!

    btw, I'm very sorry about the loss of your son.  

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  • I don't have any experience, but I just wanted to say that my thoughts are with you guys!
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  • I know it is hard, but try to remember that these tests are screenings and not for diagnosing!  If it came back with a higher chance, that just means there are some "red flags" and more testing (like the Materni21 or the amnio) is needed.

    That being said, I am concerned by how many PPs said that when they're anatomy scan came back looking normal their doctor's told them they were fine.  I really hope that I am either reading those wrong, or you were over-simplifying.  The anatomy scan should not be considered a screening test for genetic disorders.  Over half of the babies born with Downs have normal anatomy scans.  I hope your doctor is going off other information (maybe your second round of blood work came back about the same time?).

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  • I am pregnant of 36 weeks, when I was 14 weeks, I got my NT results showing high risk 1:24 because I'm 35 and because the NT was 3.3.  I decided to wait two weeks for the triple screening tests and I freaked out when the doctor told me the results weren't any good either 1:42.  I decided not to go for the amnio because I had some bleeding at the beginning and I could end up losing my baby, so I paid for the harmony test, which came just fine...

    After reading a lot about it, and doing some research, I realized my triple screening was not good either as they take into account your NT results.  I wish I had never done any of these tests, I would have had a better pregnancy and that tension is not good at all, I even could have lost my baby.  In addition, I would have saved myself the money I had to pay for the harmony test (which I did cause I needed the peace of mind for the rest of my pregnancy).

    I have a friend who was told that her baby had terrible defects and she was advised to have an abortion, she was desperate and didn't know what to do.  She decided to go on with her pregnancy and waited until the end.  Her baby was a healthy boy and had no health issues.  She was absolutely grateful and happy she didn't listen to what they told her because of the "bad results"

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  • I just had a 1:45 chance (alot to due with my age).

    Anyway, my doctor had me go back today and I took the panorama test (all the NIPT tests [maternity21, harmony, verfify,) are similar and are non-invasive to the baby.

    Now, I just need to say ALOT ALOT ALOT of prayers.

    Good Luck to you too
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