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Old 12-12-2005, 07:53 PM   #1
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Jodi Jeffery HB User
"soft markers" of DS at 20weeks

We were informed that our 20 week ultrasound showed two soft markers of DS; thickness in the neck and a calcium spot on the heart. We had another ultrasound at a specialized clinic and they found two more soft markers; enlarged opening of one kidney and a "spot" on the brain. We decided to have an amniocentisis and the FISH results have indicated that the five chromnosomes tested (13,18,21,X & Y) came back negetive. So far there seems to be nothing wrong with our baby. Has anyone had a similar experience? I would love to hear from you.

 
Old 12-15-2005, 07:00 PM   #2
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Karen W. HB User
Re: "soft markers" of DS at 20weeks

Hi,
I have a friend who's daughter is pregnant, she is 4 months, she had an ultra sound and it showed the baby had club feet and something about two main blood vessels in the umbilical cord, the doctor told her the baby has some kind of syndrome. She is very upset as I'm know you can understand because you went threw the same thing. The Doctor offered he an amnio but she said no. I had told her, it's better to have the amino done because other wise you will be stressed out the entire pregnancy-you will always be wondering. So she is going to wait until she has another ultrasound to decide what to do. Did the specialist say your baby is just fine other than the kidney problem. What was his opinion on the entire diagnoses?
Karen W.

 
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Old 12-16-2005, 04:45 PM   #3
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Re: "soft markers" of DS at 20weeks

Hi Karen,
Thank you for responding! One of the main reasons I had the amnio was for that very reason, we would be stressed out the rest of the pregnancy; that can't be good for the baby.
I'm still waiting for the full report of the amnio which should be in around the 22nd but the FISH test only took 48hrs for results. These results have easied our minds somewhat but I'm looking forward to the full report.
This process has been a complete nightmare for us. We decided not to have the triple screen earlier in the pregnancy b/c we didn't want to know either way. These finding are from the standard ultrasound at 20 weeks and we then had no choice in knowing. If the baby turns out to be perfectly healthy this whole process will be very disturbing for us. Are the professionals looking too closely for what they are calling "soft markers" and leaving parents extremely stressed out or are these findings incredible medical technology at work? I'm not sure if I've decided yet! Tell your friend amnio is a very uncomfortable procedure but only takes a few minutes. Find out all the facts first is my best peice of advice.
P.S. I'll let you know the results when we hear.

Last edited by Jodi Jeffery; 12-16-2005 at 04:46 PM.

 
Old 12-18-2005, 07:17 PM   #4
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Karen W. HB User
Re: "soft markers" of DS at 20weeks

Hi,
I wish luck with your Amino tests, I know it's hard to wait for the results. Now with my son who was born DS, We had no idea he was DS until he was born, Weather you find out before or after birth, it's a shock at first. Now I see my son as a gift, he is so happy and lovable and funny, he has taught me so much about life in his own way that I never knew-(especially having more patients), but also every thing he has accomplished in his life has been a really big accomplishment because he has had to work twice as hard to achieve it. I have to share this, about a month ago, I was really sick, I had pneumonia and the Doctor had me on 5 meds. I was laying on the couch and my son who is DS knew I was really sick, He would go in the kitchen and come back in the room and give me a cookie. About an hour later, he would get this worried look on his face-back in the kitchen he went, came back with another cookie for me, this went on for three days. I guess in his way of thinking, a cookie would make it all better. Let us know what the results are on your tests.
Karen W.

 
Old 12-20-2005, 02:02 PM   #5
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Jodi Jeffery HB User
Re: "soft markers" of DS at 20weeks

Hi Karen,
We just received the news from the Genetics Counsillor and all the tests came back as normal. I asked how they explain the soft markers and she responded by saying there are many variations of normalicity. Even if it was years earlier they still would of detected these soft markers. Once we had left the hospital on the day of amnio we were not very optomistic and now we feel God has answered our prayers.
I would like to get involved volunteering with children who are living with DS. Do you have any suggestions of how I could be of the most vaule? If I was offering to help you what would it be that would help the most?
Jodi

 
Old 12-25-2005, 09:40 PM   #6
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simonsmom HB User
Re: "soft markers" of DS at 20weeks

Quote:
Originally Posted by Jodi Jeffery
We were informed that our 20 week ultrasound showed two soft markers of DS; thickness in the neck and a calcium spot on the heart. We had another ultrasound at a specialized clinic and they found two more soft markers; enlarged opening of one kidney and a "spot" on the brain. We decided to have an amniocentisis and the FISH results have indicated that the five chromnosomes tested (13,18,21,X & Y) came back negetive. So far there seems to be nothing wrong with our baby. Has anyone had a similar experience? I would love to hear from you.

I remember reading some posts about this on the pregancy board not to long ago. It was woman talking about getting false test results for DS and all the stress they were going through. Try and do a search on that board. Or maybe post a thread there because I'm sure there are other woman who can help you. Good Luck.

I looked up the post and the thread is called positive for down's.... It should really help you.

Last edited by simonsmom; 12-25-2005 at 09:49 PM.

 
Old 12-28-2005, 01:56 PM   #7
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Karen W. HB User
Re: "soft markers" of DS at 20weeks

Hi Jodi,
Congratulations, I'm really happy for you, allot of stress is off your shoulder's, now you can go threw your pregnancy stress free, That is why I truly believe in having an amnio, because you know what your up against, not knowing can drive a person crazy.
Helping with DS children, I recommend Easter seals as a volunteer or special olympics, I take my son to Easter seals, they have bowling and ceramics and many other things they offer, I know If I leave him there, he is going to be fine, they watch him well, they take very good care of all the special needs adults and children, that means so much to a parent, knowing they are safe. Now the school I had my son in, they lost him twice, I have never lost my son and I never will. There were so many bad things going on, we pulled him out, I was actually getting high Blood pressure from all the stress, when you have a special needs child, a safe environment is so important, Top of the list, for one, they wander and they need assistance, you need a facility that is aware of that and dose a good job handling that, just like special olympics, those people care, that is what we need in the world .
Karen W.
Karen W.

 
Old 01-12-2006, 04:26 PM   #8
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singwidz_us05 HB User
Re: "soft markers" of DS at 20weeks

hi.. i have read ur post & it really stricken me. Im a filipina & im 20 weeks pregnant.

im not quite so sure about AFP & now Amniocentisis. Not to my "ignorance what is all about!!" but my husband & i is having a 1st child & the ultrasound unfortunately, showed us a "softmaker" in d heart of our baby. I was devastated & very sad to know about it.

Since, im only 27 years old, its optional to take the AMNIO test. My question is that... "is that really bad?" u know the side effects, thats what scares me most because i believed my baby is healthy. Honestly, im confused since i also read some women did it successfully. i want the best for my baby & neither i will do things that might hurt him/her nor making decisions that i will regret for the rest of my life. My AFP test is negative and im always praying that God will do heal it.

Please some advices will make me feel better.

 
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