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Old 11-30-2005, 02:11 PM   #1
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Ty's Dad HB User
Is This Possible?

My 7 week old son has the single palm crease across one hand, and has a heart murmur/ VSD. There are no other physical signs whatsoever. My mother, God love her, is absolutely convinced that there is still a possibility of Down Syndrome. She has my wife and I worked up now. Has anyone ever heard of a child being diagnosed without any physical symptoms other than a palm crease and a heart murmur? Do I need to tell my mom that she's a nut and to find something else to worry about?

Thank you,
Ty's Dad

 
Old 11-30-2005, 10:27 PM   #2
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Karen W. HB User
Re: Is This Possible?

Hi,
When my DS son was born he had problems right away that they had noticed. He was very floppy, his muscle tone was pour. His eye's were a little slanty, he had a every poor score at birth, he turned purple red when he cried and the had some breathing problems He was losing weight and even when we got him home, he stayed small , he wasn't gaining weight. Just because he has a heart murmur doesnt not mean he has a genetic disease. My daughter was born with two holes in her heart and she is not DS. I think your doctor and the medical staff at the hospital would have picked up on that. They knew my son had the sign's of DS an hour after birth-(of coarse they always do genetic testing to confirm it). If your really concerned, set up a Doctor appointment and if he says, your baby is just fine, that will shut your mother in law up and the stress will be off your back. Let us know the outcome.
Karen W.

 
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Old 12-01-2005, 10:33 AM   #3
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Location: upstate NY
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Jaber HB User
Re: Is This Possible?

Hi there,
My daughter had very few physical characteristics when she was born, and does not have the simian crease (single line across the palm of the hand, which is usually the dead giveaway). A blood test is 100% accurate. You can't dispute that, and that's what we ended up waiting 2 weeks for, for the positive diagnosis. The doctors in the delivery did not pick up on any Down's features, because there were hardly any. My husband asked, because we had a couple soft markers for DS. I suggest you get a blood test immediately and find out the answer as soon as possible!

Last edited by Jaber; 12-01-2005 at 10:36 AM.

 
Old 12-16-2005, 04:58 PM   #4
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Jodi Jeffery HB User
Re: Is This Possible?

Hi Jaber,
I was wondering what the soft markers were and did you have animo? If so, what were the results of the amnio?

 
Old 12-17-2005, 10:54 AM   #5
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Join Date: Dec 2003
Location: upstate NY
Posts: 84
Jaber HB User
Re: Is This Possible?

Hi Jodi, I had two soft markers: choroid plexus cyst and echogenic focus. Doctors said that if it was one or the other being there, there would be no reason to be concerned, that they are both not serious and show up on ultrasounds of healthy babies w/ no Down syndrome (both have no lasting effects on the baby). But because there was the both of them, they had to tell me that there was a chance, and offered an amnio, which I refused. We held out hope of the possibility of baby not having DS. However, I would never trade my sweet little girl now for anything, she brings us and our families much joy and happiness.

 
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