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Markers for Down Syndrome?

A friend of mine had her 20 week ultrasound. They said there is a spot on the heart and the nose was underdeveloped. the Dr. said that these are two markers for down syndrome. He told her that she didnt need to do an amnio right now, but could wait. They are going to do an ultrasound at each visit now and she can decide if she wants the amnio from there. My questions:

1. Isn't it "more risky" to do an amnio after a certain date?

2. Is the ultrasound really a good indicator or is my friend just panicky?

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Asked by cristie1276 at 9:39 PM on Feb. 18, 2009 in Pregnancy

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Answers (5)
  • I don't know that an amnio becomes any more risky after a certain date, although I personally would never take the slight risk of miscarriage that an amnio carries.

    An ultrasound is pretty accurate in picking up markers, I would say more so than the pre-natal testing that has a high false positive rate.

    My 1 year old has Down Syndrome, feel free to send me a message I'd be happy to talk to you and answer any questions, and if your friend is here on CafeMom I'd be happy to talk to her as well =)

    Answer by dedicatedrider at 9:44 PM on Feb. 18, 2009

  • I had a similar situation happen with my second. i opted not to have an amnio because of the risks involved. i would rather give birth to a baby with down syndrome than take the chance of loosing him/her. "2. Is the ultrasound really a good indicator or is my friend just panicky?"- my doctor explained to me that they have to put something in those reports. whether its good or bad. If they start to see more signs, then i would worry a little. but a baby is a blessing no matter how he/she arrives. ill keep her in my prayers! has she had the AFP screening yet? if her chances of having a baby with down syndrome are great than normal.... that may be the case. I think they do that test between 15-18 weeks.

    Answer by xburtonchickx at 10:02 PM on Feb. 18, 2009

  • xburtonchickx: Is the AFP the blood test? I don't think she had that.

    dedicatedrider: I don't think she is a CMer, but I might be able to convince her to join up as a support/resource. I know I have loved having other mom's perpectives

    Thank you both for the input and prayers:) Y'all are awesome

    Answer by cristie1276 at 10:48 PM on Feb. 18, 2009

  • yes it is a blood test. It stands for alpha fetoprotein. Usually just thrown in with the mix of all the other testing they do, and if something comes back elevated or too little they let you know. You might have her ask her doctor. it could bring a little more re-assurance to her.

    Answer by xburtonchickx at 2:55 AM on Feb. 19, 2009

  • With my youngest (soon to be middle child) he had two "soft markers" for DS. He had cysts in his brain and his ureter (I think) was a cm too big... Just to calm my fears I opted for the amnio... it wouldnt have made a difference tho, b/c your only choices (according to the Dr.) are to keep the preg. or terminate... I'm pro-life, so I wouldn't have terminated anyway... but I wanted to be prepared in case I DID have a child w/ DS. He turned out fine!! (This baby has the same soft markers... so we arent doing an amnio this time around... figure it must be something in his genes.)

    Answer by MunchiesMom324 at 3:57 PM on Feb. 22, 2009

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