Trisomy 21

Trisomy 21 is also known as Down syndrome and occurs when the child receives duplicated information from chromosome #21.

Down syndrome affects approximately 1 out of every 1,000 births and older mothers are more likely to carry a child with the disorder. The symptoms of Down syndrome can vary from mild to severe. Common symptoms of Down syndrome include physical and mental delays, heart complications, dementia, hearing loss, vision abnormalities, thyroid complications and skeletal abnormalities.

There is no cure for the disorder, but most patients can lead healthy lives with the assistance of others.

Comments: Trisomy-21

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sunshn1122 - 205 days ago.
Just wanted to share a good news story about DS. For the past 13 years I have been legal guardian for my 36 year old sister who has DS. She has been living with me since our mother passed at 46 years old from breast cancer. I share this information because I want each of you to know that having her in my life has been nothing short of a blessing. Since I was raised in a single parent household (dad left when we were very young) - i have always had a hand in raising her. She is the brighest ray of sunshine and lives a very normal life everyday. She goes to work everyday from 7-4:30pm and has a boyfriend and very normal life. She has friends and a social life and can do just about anything on her own. She has a cell phone and ipod and loves her dvds and music more then anything! I am now currently 38 years old and pregnant with twins and she is beyond excited to be an aunt now as well. I am sharing this information because when my sister was born 36 years ago-the term ds was taboo and they wanted to institutionalize her and take her from my mother because of the lack of understanding of what these children could really accomplish. Now a days- there are so many options and better care available and the sky is the limit. My sister has friends that read full Danielle Steele novels from cover to cover! Having a DS child or the possibility of one is so very scary but is so rewarding. My sister has chosen to continue to live with me in our home but can at any time live in a group environment if she so chooses. Personally i think she likes the freedom and extras she has in the house here and being her own boss- at times.lol. I have had the tests for DS and also gene counseling. My results came back good with very very low risk and my u/s came back normal but I would not give up my sister for anything in the world. She makes my life complete everyday and is my best friend.

gessgoose - 208 days ago.
Hi, I am 24 weeks pregnanty, my husband is 50 years old, I am 27 ... I been reading about the father age is also a risk for birth defcts and DS... I did my ultrasound and they say Was normal... But I been very concern, because I also read about lots of people who had the ultrasound normal and the babies come out with DS or other disorder... Please help me... I been desperate

lilmama(maddie) - 356 days ago.
Just wanted to update in case someone has the same question as I did and looks here. We had the level II ultrasound and everything came back completely clear. She is showing signs of echogenic bowel but he said it's nothing at all too worry about. The equipment used these days are so sensitive that they pick up on everything. He also told me that an EIF means nothing. We are happy and relieved. Good luck to everyone.

lilmamamads - 363 days ago.
Sorry it was a eif

lilmamamads - 363 days ago.
Anyone have an afp come back normal but show 2 soft markers in the ultrasound? My 18 week came back with both eic and possible echogenic bowel. I go in on the 28 for a more detailed scan. I guess you just wait but has anyone else had this?

esposabella - 375 days ago.
I was wondering if anyone had the DS diagnosed before birth with either the NT scan and or the Triple blood screen. I got back a good NT scan result but the triple scan test came back abnormal. Now im going in for the amniocentisis, anyone with info, advice?

erikatx - 393 days ago.
congratulations kerryx0lee ! are you on babycenter Ds group btw? I am mother of the most PERFECT little boy who happens to have Ds, he is 16 months and the bestest thing that could have ever happened to us! www.twogirlsandethan.blogspot.com

kerryx0lee - 398 days ago.
hello everyone .. i usually post in the Week-to-Week sections and now i am glad to have found this section of the site .. i am 21 years old and just gave birth to our 3rd child 8 days ago. 4 days ago he was diagnosed with Down Syndrome. This was a complete surprise to everyone because there is no one on either side of our family who has DS. Our 2 older children (ages 3 years old and 21 months) do not have DS, We don't know anyone personally who has DS either. Alot of people are surprised to hear about the diagnosis and say 'im so sorry' .. but I look at the situation like this : our chances of having a baby with Down Syndrome were SO rare, it just makes us SO lucky to have him. He is our baby for a reason. He is 8 days old and is so precious, he is loved by so many people already and he is still in the hospital. He is in the Special Care Nursery because he still needs to eat more from the bottle, right now he is eating a little more than half of what he needs to be eating so the rest goes into the feeding tube. Also, he has a hole in his heart that they are keeping an eye on. We hope to have him home soon.

ellae - 401 days ago.
momofalmost- i was in the same situation when I had my son. I was given a 1 in 8 and opted against the amnio. My husband and I went in not knowing if he had it or not. He had several soft markers. They will most likely have a neonatilist present at your babies birth. They can check just by doing a physical and the normal examinations that doctors do when the baby is born. Check for the single fold in the hand, no nasal bone and down turned eyes with a single fold. They will only do a chromosome test if the feel the baby may have it. Atleast thats what happened with my son. He was in the NICU for unrelated reasons. I remember being so upset I begged them to test him because I NEEDED to see it on paper. All turned out well though! Good luck and congrats!

momofalmost5 - 401 days ago.
hello all I will be 38 weeks tomorrow, at 18 weeks i had a positive AFP showing my baby at a 1:173 risk of having down syndrome. I opted against amnio because I would not abort baby reguardless of result and did not feel the need to risk anything for the answer. I have had prolly 12-15 u/s thru the pregnancy and the only marker that ever showed were cysts on babys brain that fixed themselves. So i have more or less put the risk out of my mind. As delivery time is approaching I find myself a little nervous again. When my baby is born will i know just looking at him that he has it? Will they have to do tests to find out if he does? These things are bothering me, any advice or answers are more than welcome!! thanks so much

leslh - 465 days ago.
My brother was born with down syndrome, but let me tell you ladies..he is the sweetest person i ever met, he is so smart , he is on first grade, and I can't imagine him being different than what he is, he is GREAT, we found out he had down syndrome when he was like months old... my mother was in tears and I didn't know how to make her feel better, but days , months went by and we knew that God only sent this little person to make us happy, cause thats all he does, even tought he gets an actitude sometimes!! lol but he is so easy going, he hates doing homework! I don't! see anything ''different'' on him from other kids....!!Love you little brother!!@@

princessalexv - 465 days ago.
Hi everyone. I am 31 years old and on my third pregnancy. I took the triple screen with my first two babies and everything came back normal. When I was asked to do it for my 3rd, I didn't hesitate. The ultrasound was normal, but my blood work came back abnormal. My risk went from 1:366 to 1:284 for my baby to have down syndrome. I am freaking out and stressed all the time. I read alot on the high false positives and all the blessed endings where these false positives were true. I still can't stop worrying and crying. I told my family so that we may have more prayers and happy thoughts. My husband and I are praying as well. It has been a stressful week and don't think I can have more weeks/months like this. It is extremely hard not knowing.

mommykaren - 489 days ago.
Hi everyone. I am 40. 2nd pregnancy 19weeks prego. Missed miscarriage of 1st pregnancy at 12 weeks in 12/09. This pregnancy is result of 3rd ivf. Prior to my sequential screen I has a 1:40 risk for DS based on my age alone. After the 1st part of the labwork it went to 1:5!! Obviously they recommended amnio, but after some research I knew this was our baby no matter what! So, we opted not to get the amnio. All our ultrasounds have been normal so far, no soft markers. I know you can still have a DS baby with no soft markers, just as you can have a baby without DS and have soft markers on ultrasound. It will be rough waiting for delivery to find out if baby has DS or not, but after all we have been through, I just couldn't risk the amnio (albeit a very small risk). Just wanted to share with others going through this.

Lisa33 - 496 days ago.
CaliforniaMom - My daughter had a calcium deposit (echogenic intra cardiac focus) on her heart and her bowel which having both worried my doctor. My testing for downs previous to that came back negitive but I guess with the 2 soft markers she was worried so I had to go see a high risk doctor and have a level 2 ultrasound done where they only saw the calcium deposit on her heart and not the bowel so the high risk doctor said it was completely normal, they see that all of the time and did not recommend the amnio. I will never forget the pain I felt when my doctor told me I had to see a high risk doctor for that. Anyway my daughter is going to be 6 months on 10/13 and she is healthy and no problems at all!!!

jcblan1979 - 503 days ago.
Hi everyone. I did my IPS testing and the bloodwork came back with 1:10 chance of DS. So, I did an amnio on Monday. I should get the RAD results this week. Feels like the longest week ever. The Genetic counsellor said 2-3 days. RAD is the quick scan for the trisomies. The amnio doc seemed very positive that everything would come back just fine...I'm very nervous, I want the phone to ring, and I also don't....I just want to know so I can move on one way or another.... I am just hoping to hear from anyone of you who have gone through the same thing. PS: I can see a nasal bone on my US scan. So that's good right??

carolynej - 505 days ago.
Update: My Amnio results came up negative for downs:) Now I can relax (a little) and enjoy the rest of my pregnancy;)

carolynej - 514 days ago.
Hi everyone! So I waanted to update you guys on my status. Yesterday I went ahead and got a amnio because my odds of having a baby with downs went from 1/366 to 1/188 at my level 2 u/s. At my first trimester screening they couldn't find the nasal bone which is a soft marker. Then yesterday I had a level 2 ultrasound and although they FOUND the nasal bone, they saw a bright spot in the heart. Since I cant and don't want to spend the rest of my pregnancy worrying about 'what if'. I hadt he amnio done yesterday and I can't believe how painless and quick the whole procedure was. So far (24 hours later) I haven't experience any side effects. I've had no cramping or spotting (I'm guessing this is a good sign) and I will get my results this Monday. I feel so relieved because I know that whether its good or bad, I will get a clear answer to the health of my baby girl. I'll keep you posted on the results.

wishinonastar - 516 days ago.
MOohaha - Is it your IPS testing you are going for?? or an amniocentesis?? I just had an U/S and bloodwork for my IPS and then I have more bloodwork in 2 weeks to do to test the probability.. but because I was told my baby has a 10.2 NT, it means it has cystic hygroma and to determine 'why' they are doing an amniocentesis and a rad (rapid apleuridy? detection) which gives results faster than the amnio... so we went to our Childrens Hospital yesterday and spoke w Genetics Counsellors who spent an hour and a half with us to explain that one of the causes of cystic hygroma is if the baby has a chromosomal anomoly which included Trisomy 21 (13 & 18 too). It could also be a Genetic Disorder which they examine your family history, a heart defect or skeletal dysplasia.. Let me know if this helps or is FAR off what you were asking. Thanks! And good luck!

m0ohaha - 516 days ago.
my doctor appt is on oct 6th .. they are going to ask me if I want to do the testing ..... What do they do ??? and how

kayandrysmom - 517 days ago.
My friends daughter (my goddaughter) had calcium deposits on her heart also...they went away before she was born and she is a perfectly healthy 11 month old beauty now :) That alone is not a sign of downs! I wish you the best

california-mom - 518 days ago.
Has anyones baby (fetus) been diagnosed with Downs after an ultrasound that found calcium deposits in the heart??? I just had an US done yesterday, Im just about 20 weeks , all labs are negative for Downs as well as the diagnostic US but Im still worried,. Going to talk to a genetic disorder counselor Monday in reguards to having an amnio which I dont want to do....

jenelaca - 529 days ago.
Ive just been told i am at high risk, Im 36yo and knew it would be a possiblity , however seeing hearing those words is still very scary..ive been referred to have more scans, i just pray that all will be ok, I am doing this on my own, the father doesnt want anything to do with the baby, so that makes this so much harder to deal with, the one thing that is keeping me positive is my mum, she had 5 babies after the age of 37 and all are just fine and she was told with all of them that she is at high risk..the other thing that helps is this great website.

DandGsMommy - 539 days ago.
@carolyn....my daughter had a very short nasal bone at her 20 week appointment ( i dont know if it was small or nonexistent at in the first trimester) I was so scared and i evebn had an amnio. They gave me a 3% chance of having a child with down syndrome. She is 5 months and perfectly healthy, no ds. Try to stay calm and avoid the internet. The nasal bone is a new finding and many doctors arent even using it as a marker yet. Message me if you want to talk : )

1stmom2be - 540 days ago.
@carolnej im sure the baby is fine...they told my sis her baby didnt have the bone and my neice came out fine!! The bridge of her nose is flatter than most babies but my sister has the exact same nose lol. The U/S does not always give precise results

Anglsgme - 540 days ago.
Hello ladies, On Friday August 27, 10, I have my genetic counseling scheduled. I am nervous and scared about the process. I am 40 years old and my chances are a lot higher for abnormalities. If anyone could give me advice regarding the process it would help with my anxiety?