March 2014 Moms

High risk after NT scan results for Down Syndrome

Hey ladies - this is my first time posting on here. I really just wondered if anyone has been in my shoes cause now I am totally freaked out and wish I had never done this testing. Trying to conceive has not been easy for us - partial molar pregnancy 7/2012, MC 4/2013, MC 5/2013 and then saw a fertility doctor for IUI and clomid in June. Got pregnant with the first round and everything until now seemed to be going great. Just got a call yesterday that my risk for DS was 1:68 which sent me on an emotional roller coaster the last 24 hours. What a nightmare! Our ultrasound looked great and we left the appt last week so excited and confident that everything was ok. I think it's increased risk because I'm 31 and my HCG numbers were high. They want a MoM of 1.0 and mine was 2.76. Now what to do? Should I freak out? I had a bunch of blood work done today and got the NIPT blood test which is new. Scheduled an amino for October 17th but really not sure if I want to do that. Anyone had this happen and then have a positive success story???
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Re: High risk after NT scan results for Down Syndrome

  • 1 in 68 is still really good odds that everything is okay!  I don't have any personal experience, but I'm sure there are many positive outcomes after NT results like this.  Should you freak out?  I don't know...will it help anything?  Change the outcome?  Make you feel better?  I personally try to stay calm, it's hard, but stress won't help you or the baby. 

    I feel like there are other options besides an amnio though...I'm sure other ladies here would know better (we don't do any early testing) but I feel like there are safer, less invasive options that will still give you a better idea of how the baby is doing.
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    ceh789amberlynnr7
  • I wouldn't freak.  Just like PP said.. what good does that do?  My understanding of the NIPT's is that they are super accurate.  Do you need to do an amnio if you had the NIPT drawn? My only advice would be to stay calm and use those results as a tool and educate your self on the subject.  
    ceh789
  • I had a friend that had a high risk and went on with the amnio. She then lost her baby and the test results came back saying the baby was fine. There is a 1:200 chance of mc after amnio.
    The same friend got pregnant again, got another high risk result and decided not to have the amnio. Her daughter was/is perfect!
    She then went one to have another child and refused to even have the NT.

    I only have the NT for the ultrasound. I think it's pretty ridiculous.
  • I'm sorry you are going through this. Like one of the pp said, even 1:68 means there is a very minimal chance there will be any abnormalities, about 1.5%.

    If the results of the amnio won't change your mind about whether or not you keep your baby, I would just skip it. There are added risks to your baby by having the amnio done.

    At the very least, I would wait to decide what to do about the amnio until after you get your blood work results.
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  • I wouldn't do the amnio. If your gut is telling you not to, don't. 1 in 68 is scary, but that's still less than a 2% chance when you think about it. The odds are in your favor!
  • I was referred to a perinatal doc (which is today at 2:15 PM and the reason for me not being asleep right now). I'm 38 and my NT scan came back normal but blood work showed otherwise. Dr said I have 1:138 chance of having baby with DS. I'm scared for this visit today...but I know that whatever the outcome, we will be having this baby no matter what. Because of this, we are not doing amnio. We will do other blood work though just for peace of mind.
    kelley72
  • Try not to panic. We had the scan last monday & late on thursday had a call & was told we have a 1 in 30 chance of DS. Had the NIPT on tues. Got an anxious 10 day wait but hopefully all will be fine.
  • My first US at 10wks came back that my little nugget had a "fat neck" which, as they said, was a marker for DS. The MW encouragd my blood work to test something or another... my risks? etc. but I declined Genetic Testing and any other tests. My husband and I were shook up for about 24 hours. But it was my husband who said those tests would not change how much we would love our baby - and if a test isn't going to save a life then there was no need for it. So that's how it went. My blood work came back and she never talked about those results... just said based on my age (29) and what they saw on US I had a 6% chance. I'll take that odd.
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  • I'm sorry you are going through this. I am sure it is really scary. I would wait to make any decisions until the further testing comes back. If that still comes back high risk then I would opt for an amnio. There are risks for an amnio, but less than 1%. 
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  • Yes, I've been in your shoes, and I'm so sorry you're going through this OP (and others). I'm also 31. My baby's NT scan showed a thick nuchal fold (2.6 and 2.7 on separate scans). We were referred to a fetal medicine specialist and opted to do the MaterniT21 test because it's 99.something% accurate in identifying any of the trisomies. We opted not to do the amnio for the reasons PPs have mentioned (increased risk of miscarriage). If you feel strongly about it, maybe do the NIPT first and if that comes back showing anything abnormal, only then opt for an amnio (since it's definitive)? I know it's incredibly hard to stay calm but, like PPs have said, the odds really are in your favor. Waiting was torture, but our test came back with great results -- our son has no chromosomal abnormalities.
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  • My 12 week NT scan came back abnormal (I posted about it a few weeks ago), with a higher risk for DS or some other form of chromosome defect. I was given the option of the amnio, materniT21, etc. I decided not to do any of them, and see what happened at our next u/s. I was a wreck for four weeks. We just had our 17 week ultrasound and they did a ton of measurements and baby is 100% healthy and normal.

    I know it's hard, but try not to panic just yet. I found plenty of stories on this board and others of people being in similar situations and their babies being perfectly fine. Just wait to get your blood results back and go from there.
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  • My uncle has an employee who was told that her son would most likely be still born or die shortly after. That his heart and other organs were not developing correctly. That he would be a dwarf and they should plan for a funeral.
    He was born perfect! It was amazing! He is going to be turning 1 here shortly.
    There is nothing that is 100% fact.....


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  • I know several people who have tested with high odds and had perfectly healthy babies. I was 39 with my first pregnancy and thought a lot about how I would handle it if my results were similar to yours. I'm not familiar with NIPT--is it a free cell DNA test like Harmony or MaterniT21? If so those tests have 99% accuracy at detecting Down Syndrome by measuring the chromosomes in your blood. That alone should give you your answer. You will also still have your A/S around 20wks and there would be markers present there, as well. You can have an amnio up to 24wks, so while the waiting sucks, you have time to put all of the data together to decide if you want to do the invasive testing. Amnio is really quite safe, but it does carry risks and I wasn't willing to do it unless all signs indicated that there was likely an issue that I wanted to be prepared for. Hang in there--as others have stated your odds are still really low, even though the numbers sound scary. 
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    benevolentforce
  • I chose the NIPT test where they check for the baby DNA in your blood to see if there are higher amounts at chromosomes 21, 18 and 13. The detection rate for 21 and 18 is pretty high (90% detection) but 13 up is a lot lower at about 65%. None of these tests can give you a definitive answer, the amnio and CVS will though. But as others have said, there are some low risks. The genetic counsellor told me that these blood work tests are only a guide, and that people with low risk can deliver a baby with chromosomal defects and someone with a higher risk can have a healthy baby. Make sure you talk to your doctor and consider what you would do with the results . Hang in there, and if you need to talk this board is awesome for support.


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  • Lurking from February but yes, I have a similar story with a positive outcome.

    My risk after the NT scan was 1/125.  My doctor's didn't seem to think this was a big deal even though I sort of did.  But after the quad scan, my risk went way up to 1/28 for down syndrome.  It was for the same reason as yours - high HCG levels.  I don't know the exact number but it was something like 3 MoM.  

    I opted to have an amnio.  I wanted definitive results and I wanted them quickly and with the amnio, you can get preliminary results in 48 hours.  I honestly wasn't that concerned with the risk of miscarriage since my risk of DS was so much higher.  I'd also read that the 1/100 or 1/200 miscarriage risk was from back in the day when they didn't use ultrasound to guide the procedure.  

    The amnio wasn't bad at all.  I was scared it would hurt, but it really just felt like a weird pressure and it was over in less than a minute.  

    I got the preliminary FISH results in 48 hours and they came back clear.  I got the full results a 8 days later (today actually) and they were also clear.  

    Hope this helps.  I know it's scary.
    benevolentforce
  • Can you take the matern21 test? It's 99 percent accurate and non-invasive? Maybe it would help,close the gap?
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  • What is the matern21 test? Is that the same as the NIPT blood test I just did? I am doing a little better today and trying to think positive. Thank you so much everyone for sharing your stories and support! It has helped a lot today for both me and my husband (I had him read these too).
    Just waiting on more test results and we will see. I go in for my level 2 u/s but not until oct 17th and amnio is scheduled then too. We have time to decide and also weigh all the other results before we go through with it. The waiting is the hardest part!
  • The Matern21 is one of the NIPT tests that is out there.  There are a few different ones.
  • I am so sorry you're going through this. My NT was a nightmare for Me as well. My advice would be to take what they say with a grain if salt. The Panorama test gives results for Down Syndrome and 3 other genetic disorders. It is 99% accurate. It takes I normally 7-10 days for the results, but they can help you make a more conscious decision on doing the amnio. Hang in there!
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  • I had a friend that had a high risk and went on with the amnio. She then lost her baby and the test results came back saying the baby was fine. There is a 1:200 chance of mc after amnio. The same friend got pregnant again, got another high risk result and decided not to have the amnio. Her daughter was/is perfect! She then went one to have another child and refused to even have the NT. I only have the NT for the ultrasound. I think it's pretty ridiculous.
    Bloody hell, this was completely unnecessary. What's wrong with you?

    kschafer, I'm so sorry for this stress. Your NIPT should give you a definitive answer about this kiddo's chromosomes, and you should have an answer within 7-10 calendar days. I wouldn't make any decisions about an amnio until you have those results back. These tests are pretty reliable and should answer this question without more invasive testing.

    Hang tight. Based on the odds you were given your chances of this baby not having Down are greater than 98%, so try to stay focused on that while you get through this wait. I know that it's hard and scary. Stay busy during this time. Find fun things to do to pass the time. It helps, I promise.

    (((hugs)))
    avigailandcharlieTallAshceh789mcfife09
  • I never post, but I wanted to respond to this one. I had 2 iui's with my dd and then got a 1:12 risk of ds after the nt scan. I had a cvs the next day and it was the best decision I made. I knew within 48 hours that she was ok and spent the rest of the pregnancy relaxed knowing that my baby was healthy. I had much better nt results this pregnancy and am now anxiously awaiting the 20 week ultrasound to confirm that this baby is healthy as well.
    KristinM2886mcfife09
  • I'm sorry you're going through this. It's so hard to hear anything but positive news when you're expecting. This is my first pregnancy and I received the, "high risk" news after my first trimester screening as well. I went on to have the Harmony blood test per my Dr.'s advice since it's much more accurate (99.9%) and has no risk to you or the baby. After finally hunting down the results, got found out last night that all is well and numbers are low risk. My only advice would be, remain positive! The odds are in your favor. Keep trying to picture the positive results or phone call that will happen. It's not easy to wait around for such huge news but know that you will have a huge support system! Good luck!
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  • I am a scientist and before my NT scan i read all the research behind the numbers. Having a high Hcg is the least predictive that the baby will have DS. This is because when they took Hcg levels of non DS pregnant woman they fell into a wide range, so hcg levels are more variable over all. Hopefully that will hellp you think positive until you get more definitive test done. From the primary research papers i have read on the blood test they are very good and not invasive.
  • Why freak out? Even if you do have a child with DS, they can live a perfectly normal and happy life. They are amazing people. 1 in 68 odds isn't bad, but remember every life is a gift... And you shouldn't be disappointed or distraught if you have a child with DS. Educate yourself and love them regardless. My $0.02! Good luck.
    craftiemommielalaith50
  • We are still waiting on test results back from the NIPT test...I swear this is like torture. At least we have had time to process this. I have to say thanks so much cause all of your comments helped to bring some real perspective into what is actually going on. I have determined that my doctor is amazing and this genetic counselor just really sucks! Nothing seemed positive in her eyes. All about scaring us.
  • When do you get your results? Thinking about you!
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  • craftiemommiecraftiemommie
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    edited October 2013

    Why freak out? Even if you do have a child with DS, they can live a perfectly normal and happy life. They are amazing people. 1 in 68 odds isn't bad, but remember every life is a gift... And you shouldn't be disappointed or distraught if you have a child with DS. Educate yourself and love them regardless. My $0.02! Good luck.

    My husband and I had this conversation before our NT scan and we said the same thing. It's not an easy life, but of course our baby would be loved more than anything either way. It calmed me down a lot to have it put that way. For me personally, the amnio wouldn't be worth the risk. But every one of us has to make our own decisions.

    Edit: I do understand why you would freak out of course. I freak out about everything so I would never say don't - but maybe thinking "ok, if these are the cards we are dealt then it's not all bad" can ease the freak a little :)
  • My mom was 35 and told my little sister would has DS she was born completely healthy and not DS my girlfriend was 30 and all the tests came back negative and yet her little girl was born with DS

    Not sure if you are religious or not but my feelings have always been that God sends us exactly what HE knows we can handle, I would do your research and take peace knowing that tests are really just guesses

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  • Where do you live? You should look at the website for the Mother Infant Reasearch Institute (MIRI) in Boston. They are doing amazing work on non invasive tests. Regardless of where you live, these options may be available to you. And they just published a study showing that certain supplements taken after a positive finding of DS can drastically improve brain function and hugely increase the odds of independent living as an adult.

    And as many other posters have said, 1:68 is still really good odds. It would be really hard for me, but stressing a ton will only make you feel worse. I'll be keeping you in my thoughts.

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