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Possible Down Syndrome baby, need help
Hi,
I am 34 years old. I had a healthy baby girl last Oct.
I found out I was pregnant in July '09. I was thrilled.
I had an NT scan last week (12 weeks) that came back at 6.9mm. The tech told me that was the thickest she has seen. Of course I started crying right away. My doctor who is a great doctor and a high risk doctor, told me the ultrasound and my blood work do not look good, the baby most likely has DS and asked me if I was willing to terminate the baby. I couldn't believe what I was hearing. I couldn't answer that question. I needed more information. I had a CVS test done the next day and my FISH results came back unclear to me. This is what the doctor handed me. This is confusing...
It says -The FISH results suggest a male (so now I know its a boy) with both a normal cell line and a cell line with trisomy 21. Three signals for Chromsome 21 were observed in 1 in 49% of the interphase nuclei and two signals for chromsome 21 were found in the remaining 51% of the nuclei. The result is "suggestive" of mosaicism for Trisomy 21 and a diagnosis of Down syndrome.

Does that mean the baby does have Downs? I asked my doctor (ya know the one who asked me to terminate) Does my baby have 100% DS. He said he couldnt tell me yes for sure....
I know I have to wait for the full and final report to come back which will be another stressful 5 more days. Has anyone else gone through this? What was your outcome???  
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1000480 tn?1266596199
I have not gone through this but i've heard of a lot of false positives from amniocentesis, but not sure on the testing you've had. I do know that my brother has Trisomy 21 and he is very healthy. He surpassed the breathing and lung problems and the obesity. It took extra time with therapy when he was younger but he is very functional. Down syndrome babies are blessings just as any other. I always opt not to get my kids tested for it when i'm pregnant because I know that I would not terminate the pregnancy. I know this isn't too helpful, but there is always a light at the end of the tunnel. I wish you well and hope for the best and that your baby is healthy. Good luck!
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Trisomy 21 means Down Syndrome; yes. Perhaps your doctor doesn't want to say 100% just yet.

You should talk to our member martikadragoon. She has a baby that she knew was going to be born with Down Syndrome and was given the choice to terminate or keep him. He's a beautiful, happy baby. Perhaps her insight and her experience can help you since she's been in your shoes and knows the fear that you're facing.

Good luck!
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212720 tn?1304379015
Based on the preliminary FISH results it does indicate that the baby has downs syndrome.  The final amnio result will give give you a 99% conclusive answer.
As was stated above there are members on this forum that have downs babies and they are lovely wonderful children.
There is also a forum on here for downs syndrome questions.
Good luck I know you must be feeling a wide range of emotions. Please keep us posted.
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384896 tn?1335297931
False positives aren't uncommon.
I've heard of docs being 100% positive that the baby has DS and have the baby come out perfectly normal!

I wouldn't terminate the pregnancy.
One of my good friends have a DS baby and yeah, it's hard, but that's your baby!
You can't love it any less just because he's different.

I'm completely against abortion unless you're a rape victim or you know the baby is not gunna survive outside the womb because of several complications.

DS, from my understanding varies from mild to severe.
Maybe your baby won't have it so bad if he really does have it.
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795082 tn?1361905518
hold on just to make it clear u had a cvs which is different than the anmimo, cvs takes a little tiny piece of placenta where the placenta attaches to uterus, anmimo takes the anminotic fluid which has babies shed skin cells. in i'm sure they told u all about he fish and that it is just an early way to know is its a yes or no it is so its likey that yes your little boy has ds per the world "diagnosis"  but it will be confirmed in 5 days. u and ur little boy are in my thoughts and prayers
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363110 tn?1340924019
Congrats mommy!  My name is Cindie and First of all no matter what your baby boy is PERFECT. I am the member on this board who has a son with T21. Based on what you posted it does sound like your son has Mosaic Down syndrome, which only 1 or 2% of all babies with DS have.  Not only because of your FISH results, BUT also due to your NT scan since you did have it performed at the correct time.  

opposite of what some ppl say, Amnio and CVS have a %99.8 accuracy rate. They are nearly never wrong. BUT you did only get the FISH results. Wait to get the full results.

My TJ is a year old and I knew at 17w pregnant that he had it. I had an amnio to see if he carried my rare genetic skin disorder... it just so happened we were that lucky 1:1300 or so!. I'm 22 years old. of course it scared the living h*ll out of me to find out, but at least it gave us time to prepare for his arrival. I do not believe in abortion/termination, so it wasn't an option for me even though they offered it.
My son has traditional T21.

I want to tell you from experience,

#1 Fears, doubts, worries are all normal. Most fear is fear of the unknown
#2, it is normal to mourn that "typical" child you expected to have, but even with down syndrome your baby will be perfect and normal.

#3~ Individuals with the mosaic form of DS tend to be higher functioning which is great news for you! In other words, it means they have a mild form of it.  I actually know a girl (online) who has the mosaic form of DS and she has never had any real health or mental symptoms of having DS. You can see it if you look closely at her pics. it is impossible to know how they will be affected mentally until they get older, around preschool/school age.  

Some things you might like to know:

#1~ You can have a level 2 U/S done a little later on to check for soft markers.
#2 you can have a Fetal echo done to check for any heart defects. Heart defects ARE common in our children, but many of them can be fixed with medication.
#3~ Just because a child has down syndrome does NOT mean they won't graduate high school, attend college, get married, etc.  because they can do all that and more!
#4~ There are SO many therapies, and different things offered to our children, FREE OF COST to help them develop and reach their potential. Your hospital/doctor will put you in touch with groups in your local area.

After I had my son, my husband and I (he's also 22, now) decided to try for baby #2, I'm currently almost 6 1/2 months pregnant with my second boy, who is typical.  we did go through alot of struggle with TJ, he had heart problems and needed surgery at 10w old. He was also a preemie (1 month 2days early). He did get a rare infection, not really related to down syndrome, but it caused him to be in the hospital for a few months.

HE IS %100 HEALTHY NOW!!!!!!!!!!!!!!!!

Please take the time to visit us over on babycenter on our Down Syndrome Support board. We have many mommys who have children with DS and have experiences they can relate to yours.

http://community  .babycenter  .com  /groups/a315/down_syndrome   (just take out all the spaces)

also please check out my profile here on Medhelp. I have a journal specifically dedicated to parents facing a T21 diagnoses.
My son is a beautiful little boy who lights up my world everytime I see him. I wake up each morning looking forward to spending my day with him.  

If you have any questions whatsoever, please feel free to message me on here or email me at

martikadragoon @ msn . com (no spaces)

You are in my prayers, and have faith no matter what ok?

Cindie
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200198 tn?1259891197
I know this one little boy with ds and he is the sweetest little  thing in this world. He is so cute and loving with everyone. We all love him and would do anything for him. I honestly thing they are just as much of a blessing then any other child. Best of luck.
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