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Down Syndrome
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Down Syndrome

My 16 year old daughter is 17 weeks pregrant. She had the screening done and the results came back as 1:190 so the doctor ordered a sonogram. The sonogram shows a spot in my grandson's heart.
Family history includes: an uncle (my husband's brother) with hydrocephalis.
Should we be worried?
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363110_tn?1340924019
First, Congrats on becoming a grandmother even if it's at a young age.

Actually it's fairly normal for young women to have higher risks/numbers for down syndrome, although I'm not sure why exactly. I'm Cindie and I was 21 when my son TJ was born with down syndrome.
The spot on  the heart is actually very common during pregnancy. it's called an Ecogenic Focus and it is a calcium spot and if it doesn't dissapear by birth it dissapears within the first few years of life. It has no adverse effects on the child.  TJ actually did NOT have a EIF, but had other markers like what I mentioned and at 2 years old is currently about 13 1/2lbs. My 2nd child Mason DID have an EIF and he was healthy when he was born and at 10 months weighs   23+lbs

If your daugher is REALLY worried about down syndrome she can have an amnio but if she wants to keep the baby no matter what, then she should wait until later around a viable age for the child. What's good is these days most cases can be found by ultrasound.

What you and your daughter want to pay attention to is if there are 2 or more markers. There can be descrepancies between the stomach/head arms/legs, there can be differences noted on 3D u/s when she's further along.  I found out about my son before he was born around 17 weeks because we were testing for a genetic skin disorder that would affect how he needed to be born.

Send Sandi (Dragon1973) a message. She too has a son with down syndrome.
Feel free to send either one of us questions you have that I may not have answered here. I think lately I've been on a bit more than she has. I'm a stay at home mom and she's a police officer :) and BOTH of us love our boys more than anything in the world and feel incredibly lucky to have them. Her son didn't really have any serious health issues but my son TJ did have heart problems that were too serious to heal on their own w/meds so he had surgery and a few complications related to DS and the skin disorder that he did indeed test positive for at around 23w.

I do not think Hydrocephalis should be a worry with your daughter because it's probable they'd have found hints of it on her ultrasound.

ttyl
Cindie

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1227139_tn?1367231533
Hello Bea9430,

Welcome to the Forum and please forgive my absence and tardiness in getting to your question. Cindie explained the answer perfectly.  There are many markers for Down syndrome and if your daughter would like, I can send her a list of known markers and characteristics for Ds.  Her odds or risk assessment of 1:190 is less then 1% overall.  This risk and assessment changes as she continues along in her pregnancy and also as more screening or testing is done with respect to prenatal testing.

As Cindie mentioned an EIF or bright spot on the heart is a known marker BUT in the absence of other markers is actually not indicative of anything at all.  Many many babies have EIF's show up on their ultrasounds, and when found alone (with no other known markers) tends to mean absolutely nothing.  I have some really good sites regarding EIFs that she can read here if you would like to pass them on to her,

What I would suggest for her upcoming ultrasound is that (and this will likely happen regardless) is that they look for other known markers.  If there are any correlating markers found, then she will likely be offered further testing or screening (testing being more definitive and screening which only gives you odds) as a normal protocol.

Depending on her focus if the baby should have Ds, knowing before hand can make learning and preparations easier and the time to adjust a whole lot better.  However, if her desire isn't to continue her pregnancy, then she will have to opt to have an Amniocentesis before 20 weeks.  I invite you both to visit my blog, which is all about Down sydnrome and has a lot of references within it.

Here are the sites:
http://en.wikipedia.org/wiki/Echogenic_intracardiac_focus
So keep in mind in the absence of other markers, An EIF is stand alone marker which will not necessarily increase the risk for Ds.

Here is my site:
http://welcometoourhouse-myjournal.blogspot.com/

Please feel free to message me for the list of known markers at any time.  Please just reference your message so I can recall who you are - I have many requests for information.

I wish you well and I hope her pregnancy continues without problems.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator
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