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Down Syndrome testing

Re: Down Syndrome testing

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    It's not a test for DS. It's for chromosomal abnormalities. It's a blood test and an u/s.
    "Hello, babies. Welcome to Earth. It's hot in the summer and cold in the winter. It's round and wet and crowded. At the outside, babies, you've got about a hundred years here. There's only one rule that I know of, babies. God damn it, you've got to be kind." - Kurt Vonnegut
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    You can have an NT scan done at 12-14 weeks.  There are certain markers combined with bloodwork that they will look for to indicate the risk for chromosomal abnormalities.  If it's determined you have a high risk, you can elect to do an aminiocentisis.  That's the only way to know before birth that a baby definitely has DS.

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    imageCiconrad:

    You can have an NT scan done at 12-14 weeks.  There are certain markers combined with bloodwork that they will look for to indicate the risk for chromosomal abnormalities.  If it's determined you have a high risk, you can elect to do an aminiocentisis.  That's the only way to know before birth that a baby definitely has DS.

    Yes

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    There are several options depending on your age and other risk factors. All of them are optional. Here is a helpful link:

    Genetic Testing

    DrMSG www.MedTwice.com
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    It's not just for DS, please educate yourself.
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    imageFlashMeyer:
    It's not just for DS, please educate yourself.

    OP- My Dr. stated the test is for Downs Syndrome.  I do suppose that in the process they will test for others abnormalities but the main purpose is for Downs.  It is only 85% accurate and can have false positives.  Once you get the information it is just an FYI

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    imageCiconrad:

    You can have an NT scan done at 12-14 weeks.  There are certain markers combined with bloodwork that they will look for to indicate the risk for chromosomal abnormalities.  If it's determined you have a high risk, you can elect to do an aminiocentisis.  That's the only way to know before birth that a baby definitely has DS.

    This. 

    I had it done with DD. It gave us great peace of mind, I recommend it. 

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    imagestove-stamp:

    imageFlashMeyer:
    It's not just for DS, please educate yourself.

    OP- My Dr. stated the test is for Downs Syndrome.  I do suppose that in the process they will test for others abnormalities but the main purpose is for Downs.  It is only 85% accurate and can have false positives.  Once you get the information it is just an FYI

    Actually, it is to measure the nuchal fold....so it is just as much for the other 2 primary trisomies as it is for T21 (as well as a few other genetic disorders that an abnormal measurement could indicate).  Your doctor probably just said that to make it sound simpler for you.


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    Most doctors do a blood test and an ultrasound. It tests for 3 trisomies. I think doctors say, "Down syndrome" test because they figure everyone knows what Downs is and they'd rather not freak people out with the less common but much more serious other trisomies.

    My doctor calls it the Downs test, too, and it annoys me, because I got it out of fear of the other two which are much scarier.

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    imageL&R70707:
    imagestove-stamp:

    imageFlashMeyer:
    It's not just for DS, please educate yourself.

    OP- My Dr. stated the test is for Downs Syndrome.  I do suppose that in the process they will test for others abnormalities but the main purpose is for Downs.  It is only 85% accurate and can have false positives.  Once you get the information it is just an FYI

    Actually, it is to measure the nuchal fold....so it is just as much for the other 2 primary trisomies as it is for T21 (as well as a few other genetic disorders that an abnormal measurement could indicate).  Your doctor probably just said that to make it sound simpler for you.

    This.  My NT measurements were actually great, but there were odd things that came back in the blood work.  It pointed to another problem, and THANK GOD I did that testing and am now able to mentally prepare.  The scan tests for certain factors, but those factors can point to many different problems and can help you determine whether to do additional testing.

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    As PP said, starts with NT screening between 11-14 weeks. You can then do 2nd tri screening which is another u/s and additional bt.  You can do the more invasive CVS or amnio (slight risk of miscarriage) but they will give you 100% accuracy on whether your LO has any chromosonal abnormalities. 

    My NT u/s was perfect.  The bt showed elevated HCG with a normal papp-a, so, combined with my age, it put my risk for downs at 1:155.  We opted to do the Harmony bt which has a 99% accuracy rate. Still waiting on the results.

    As a note, my doctor new that whatever we discovered would not change how we approached this pregnancy. Some doctors will say do not test if you plan on doing nothing. My doctor (and DH and I) wanted the tests done so we would be prepared in case the child is special needs or if the delivery would require a special team.


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