Possible Down Syndrome - Mothering Forums

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#1 of 3 Old 07-13-2013, 06:03 PM - Thread Starter
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Hi everyone. I am writing concerning my sister. She is 7 months pregnant. After her first ultrasound the doctor noticed the cyst in the brain that can be a marker for Down Syndrome. They sent her for a heart sonogram for the baby and all seemed normal. Another ultrasound, the cyst was still there, but everything else seemed normal. A few weeks ago she had another ultrasound and they said the amniotic fluid was low and that can mean kidney problem (which can be another sign of down syndrome), but she went to a specialist last week and the fluid, kidneys and everything looked good. The genetic counselor said she had a low chance of the baby having down syndrome. The doctor recently gave her a sheet to fill out to record fetal movements and to take to the hospital when baby is coming and it says something like NICU High Risk T21.


Has anyone hada similar experience? How did it turn out? I worry for my sister, it's her first baby and her and her husband were just married not long before she was pregnant. WE will love this baby no matter what!!!! Just wondering if anyone knows anything.


Thank you so much!

Wife to DH mom to DD(09-05) and DD(03/27).joy.gif

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#2 of 3 Old 07-14-2013, 08:01 AM
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Hi, we don't have a child with ds but I do some sn adoption advocacy online and put togethera pinterest board with Down Syndrome resources, including several blogs toward the bottom of it, if you want to check it out in the second link.


And here is Mothering's sn forum if you or your sister want to take a look or connect with some of the parents there...http://www.mothering.com/community/f/157/special-needs-parenting




Eta: Sorry, read this when I was tired and probably should have re-read before posting...anyway you are asking about the tests, which I really don't know much about but if you don't get any answers here or in the sn forum feel free to pm me and I can ask some of my friends about their experiences.

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#3 of 3 Old 07-14-2013, 09:00 AM
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JMO, but I think it's highly unlikely your sister's baby has Down Syndrome. If you google "soft markers" for DS you will see that this type of cyst is a "soft" marker. According to this article, http://downsyndrome.about.com/od/whatcausesdownsyndrome/a/USCPC_ro.htm, since your sister's baby had only this one soft marker and everything else looks good, her chance of having DS is only slightly above 1%. That's pretty darn low!


Soft markers are tricky because they raise these alarm bells and scare parents. But the reality is that soft markers are seen quite often and have a rather low correlation to DS unless they are accompanied by a "hard" marker (such as lack of a nasal bone or a thick nuchal fold). Unfortunately, a lot of docs are quite terrible at relaying all of this information.


Did your sis have any other screening done? A first trimester screen?


I say all this as a research obsessed mother whose first son had a soft marker and is completely healthy. I am 23 weeks pregnant with my third and this baby has the same soft marker as well as a second soft marker, but no "hard" markers. This time I had the first trimester screening done and passed with flying colors, so that has helped reassure me that this baby is just fine. In the back of my mind I know that DS is a very, very small possibility. Please reassure your sister that while there are no guarantees, her baby is most likely completely healthy.


Best wishes!

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