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

Comments 26 to 49 of about 52.
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jhbmom - 102 days ago.
Hi there, I have read through some of your stories and wanted to share mine. I gave birth 4 weeks ago today to the most beautiful little girl in the world who also just happens to have Down Syndrome. I had no idea that she was Downs, we decided when I was pregnant that we wouldn't be tested as I didn't want to be placed in a position of even thinking of abortion and I was terrified that I would miscarry (I had 2 m/c before this pregnancy). We only found out that she has Downs 5 days after she was born and if you look at her picture on my profile, you would never guess that she has Downs. I am absolutely in love with my precious little baby and yes, it was a shock when we heard and it certainly was not in my birth plan but I wouldn't change her for the world! Our whole family is excited about what lies ahead and she seems to have brought everyone closer together. She really is the best thing that has ever happened to us (along with her sisters!!).

jcarlan - 105 days ago.
update ~ My dr called with the results of my cvs test today and the initial results show everything is normal.........I'm so relieved.........and it's a boy.........

jcarlan - 108 days ago.
Hi....I'm 36 and 12 weeks pregnant with my second child. On tuesday the nuchal fold measured 3.3mm, which we were told is abnormal. I had a miscarriage in March and so wanted this pregnancy to go well! I had a CVS done today and should have the initial results on Monday. I'm trying so hard to be positive, but it's so hard....if this pregnancy doesn't go well, we aren't trying again......... Just thought I'd share, knew you guys would understand.......

huichin - 109 days ago.
Dear Takaka farmgirl - I am so sorry for your loss. I know that it must have been a very very very difficult decision for you and your family. You did what you felt was best. My quad screen just came back, and my calculated risk for having a DS baby is 1:99 (should be 1:345 for my age, which is almost 34). Of course I freaked out, although I know that there are plenty of false positives. I have my fetal survey next week. Probably will get amnio. Sigh...

Takaka Farmgirl - 148 days ago.
I have some really sad news to share with you. I had the amnio test last tuesday (1 week ago) and because of my very high risk was offerred a more expensive, quicker partial test -FISH (stands for something)? We will have the full amnio results in two weeks, however the FISH test was positive for Downs Syndrome. We found this out on Friday. We have discussed Downs with our MD, the Child Public health nurse in Takaka and Motueka, I read all the NZ Down Syndrome literature and spoke to a mom with a severely disabled child. In the end, We made the hard decision to have an abortion. Mainly due to our rural location, lack of programs for disabled kids, the impact on our kids and our very happy marriage, and the fact that we didn't feel like we could give our baby the best life she deserved. We went to Nelson hospital on Monday morning, got booked in and had labour induced. 12 hours later, after hard contractions and tons of tears, our tiny little beautiful baby girl was born dead. We spent the night at the hospital and brought her home. I held her and wrapped her up, took a couple of photos, and cried more that I can describe (which continues...) We buried her in the block of forest that we can see out our kitchen window, and planted a beautiful native red beech tree. We named her Zaquita (Za-key-ta), or 'Little Z' for short. Both my girls and my hubby's parents got to see her. I can not tell you how much I loved my little baby, and how bad I miss her. I know this was our decision, and that it was the right one for us, but I am so sad that I feel like my heart is broken. However my husband never left my side and he has been the most supportive loving husband, despite being filled with his own grief. I just wanted to tell you what has happenned as I know some of you have been thinking about us alot. I wont be on here anymore, because I don't want to open myself up to abuse from people saying that we should not have had an abortion. I have to say that I never have believed in abortion, as I am a christian. I also have never had to face a decision like this before, and I pray that no one else has to either. It was the worst thing we have ever had to go through. I feel so sad that we have done this, but I believe in my heart that Jesus Christ is the God of Love and Grace and Forgiveness. Like the woman at the well, he knows what is in my heart and I have to trust that he loves me and forgives me. So now, I reach out to him, to try to touch his robes, and I pray daily for forgiveness and healing to touch me so I can someday imagine happiness again.

Takaka Farmgirl - 162 days ago.
I am 15 weeks preggers with my third, and have had two miscarriages in the past. I am scheduled for amnio tomorrow. I am 37 years old. My nuchal fold measurment was horrid, at 5ml, and that has given me the most worrying odds of 1/3 for trisomy 21, 1/7 for trisomy 18, 1/24 for trisomy 13. I have been waiting for two and a half weeks to have this amnio, and I will have to wait another 2-3 weeks for the results. I am just sick with worry and am filled with such conflicting stuff. with odds like these, I am just praying and praying to have a healthy baby.

babyx2 - 170 days ago.
Hi NikiL- Your story inspires me... I am 15 weeks preggo and am scheduled for an amniocentesis tomorrow. I will be 36 years old this month and my blood work combined with my age and the measurement of baby's fold (2.1mm)put me at an increased risk of 1:21. My doctor did not offer CVS?? I have been worried sick this entire week and am feeling very unsure. I am glad to hear someone has received good news...

hopebaby3 - 183 days ago.
I am so worried right now. For my 2nd Dr told me my odds of having a DS baby is higher than that of a 36 yrs old. I was 33 then. I did a amnio and my Son turned out to be a healthy baby boy. Now i am preg (4 wks) with baby #3. By the time i deliver, i'll be 36 yrs old. Do you think the odds are higher now and its definite DS baby?

nikiL - 194 days ago.
Hi, just joined up but this website is my bible! I had my 12 weeks scan last week for downs, risk assesment cam back at a 1:4 chance of my baby having Downs. These were based on a Nuchal Thickness of 3mm and they said 'no nasel bone' seen. I have had the most worryfull week of my life! I had a CVS test done on Monday just gone to get a conclusive result, results are just in and...... bub's is all good! Test came in clear of DS. I am releaved but would have keep bubs if it went the other way. I just want to let anyone else know that is going through this that always hope, 1:4 is very high odds but in the end doesnt mean much at all.

tia2105 - 204 days ago.
I am 17 weeks preg & had a maternal serum blood test (screening test for DS) last week. 2 days after the test, the hosp called and said I have a very high risk of a DS baby (ratio is 1:60; the nurse said cut-off point is 1:250). This is our 1st baby in 10 yrs and my hub refused to have amnio test done, saying we'll keep this baby no matter what happens. I am worried sick after that phone call & pray that all will turn out well.

Justinsmommie - 215 days ago.
I have a four month old with DS. He also had a TEF and was hospitalized for 20 days due to surgery. I just wanted all of you who are scared/ worried of genetic tests during pregnancy I was just like you scared out of my mind but Justin is my greatest blessing ever ( and I have 3 other children ). You should listen to the song Sometimes Miracles Hide by Bruce Carroll it states it all. Justin can roll over and could at 2 months ( both ways ) , he can't hold his bottle but his smiles sure melt my heart. I wonder what I have done to receive one of God's greatest blessing , what an honor that was. I am proud to have my DS child he completes my family.

Cindie - 234 days ago.
I'm 22 years old and my husband and I have an 8 month old baby boy named Tyler with Down Syndrome. I found out early on around 17w pregnant because I had an amnio done to see if he had my rare skin problem Epidermolytic Hyperkeratosis. He did, and also had down's. He's been thru so much. he had Open heart surgery at 2 1/2months old, massive infections that nearly killed him 2x. Spent 3 months in the hospital recovering, and had other issues... (thyroid, and other stuff.) WE were very suprised when we found out he had D/s but we are so happy to have him. He's just learned to begin holding his head up as well as play with his hands and grab toys and bring them to his fact to mouth. He also rolls onto his side from his back. It's frickin adorable. We are the youngest parents in our town with a baby that has D/S. It doesn't run in our family but just happened. We are right now TTC baby #2 and I'm thinking I'm preggo because all the signs are there. :) There's a nagging worry in the back of our minds about the chance for D/S for baby #2. But we are happy nonetheless. If anyone has questions just PM me.

CanadaMom - 258 days ago.
My heart goes to all of you as this hits close to home. When I had my anatomy scan performed at 21-22 weeks roughly they found a 'Bordeline thickening of the nuchal fold' about 0.5 mm and their interpretation was it has something to do with Trisomy 21. I was scheduled to attend a Genetic Counselling, they explained to us what's the reading all about and all sort of stuff related to chromosomes, genetics and others thing related to Trisomy 21. At the end of the of this counselling, I was asked if I would like to have an amniocentesis done, Absolutely not, I just know that my little guy will be alright :) It was definitely heartwrenching to go through knowing that there could be something wrong. :) But keeping a strong faith and lots of prayers on the side really helps and facing reality that regardless whether or not you are keeping your child. :) Every babies are miracle babies and they are absolutely heaven sent. :)

barrylyons - 260 days ago.
My cousin who is also a very close friend has just given birth to beautiful baby girl, she has Trisomy 21. We are all in shock and trying to be strong and supportive for her and her family. I had a little boy 10 weeks ago and can't stop crying when I look at him, I know its irrational, but I feel guilty about thinking of what lays ahead for my cousin. She will have loads of help and support. She has another beautiful 1 yr old who will help in Katie s development. Wishing all new mums the best.

wombsongs - 264 days ago.
just had this looked at and he has this my new son I am fine with it I know what to do and he will have the best life he will be treated just like his brother he is still to young to see if he has anything else wrong but I just know I will love his no less.

lin - 330 days ago.
Tell her to ask for an amnio if she wants to know for sure, otherwise she will have to wait until the baby is born to know. Hope things work out for your sister.

mrsjdwilliams - 331 days ago.
My sister just had a ultrasound that confirmed my nephew has liquid on his lungs which is supposedly a sign of down syndrome...i'm trying to do research on what else it could be or the possiblity of him actually having down syndrome but i'm having on luck finding any info. Anyone know where i can find info on this subject or know anything. TIA

june-july baby - 368 days ago.
Hello moms I just wanted to drop a line I do not have a baby with Down Syndrom however I was a Care provider to many people with Down Syndrom and wanted everyone to know that even if you baby is born with Downs that your child might still be able to live a 'normal' life (for whatever normal is these days) I know of 1 lady with Downs that works in for a Law Firm and Drives a Beamer!! She has a BF and is quiet happy with her life!! There is even a video documentary about her. I just wanted to include that for people who are feeling blue. I know it might not help but I hope it gives someone that little ray of light that they can hold on to!! Best of luck and hugs to you all!!

AmberHope - 417 days ago.
there is another happening with 21 where it only comes in parcially. it is extremely rare and there isnt anything on here about it. my best friends mother just had a baby with it, its genetics that make it happen... the blood flows to the body before the lungs or any organs....she has 8 fingers and 8 toes, four per hand and foot... she was supposed to be born stillborn but didnt. then they said she wouldnt make it past the first few nights, its been a week and she is now breathing on her own. after she gets a bit stronger and bigger (she was only 3.2lbs) they are going to do surgery on her heart to fix a valve... doctors really truely dont know what they are talking about when it comes to this defect....

ctouch - 437 days ago.
Found out a few days ago the amnio came back negative. so releaved. I hope evryone else has the same results, i will be praying for you.

bwest - 440 days ago.
With my first child I was told at 21 weeks that my screening come back positive for my baby to have Downs. I was really upset. They give me the option to have an amnio done or just an ultra sound. I chose the ultra sound becuase of the risk with the amnio. Tech and doc said everything looked good which made his possiblity of having it a little less. I chose not to find out until he was born. I now have a perfectly normal 2 1/2 year old that does not have downs. I will be praying for you ladies!!

chloemamma - 450 days ago.
My brother is 22, now, and he has Downs. He lives with my husband and I and he's doing really well. When he was very young-under a year- he had a ventrical heart defect and had some scary times. But now he's very healthy and functioning at a mid-to-high level for someone with Downs. I'm so proud of him. I know it must be scary, right now, to look into the future and imagine your Downs babies as happy, healthy adults, but it's truly possible. Phil is a very functional and active part of our family and his community and he's a wonderful role model to our two (soon to be three) children. He shows them that not everyone is the same but that everyone has something unique and important to offer the world. He also teaches them that each person has a right and responsibility to reach outside of their comfort zone and to try to do what others doubt they can. I'm so happy to have Phil with us.

ctouch - 450 days ago.
Hi im heather, Im 23 week, an the doctors told me my blood tested positive for DS to. They called me on the phone to tell me my results. Probably most horrible way i think any mother could find out. I went for the amnio last wednesday that just passed. I feel for all of you, An at least we all know we are not alone. Theres so many other mothers dealin with this to. The thing that sucks is they did an ultrasound an said my baby looks great, an the heart an everything is normal. But he still may have problems with his brain.

lexsiesmomma - 471 days ago.
Waiting for Amnio, Its been, 12 days, nothing yet, was two weeks earlie on the afp that came back positive

joannaariel - 482 days ago.
hi goaskalice i'm joanna and i have heard that i have a baby girl with ds and docs told me that ds babies have a hard time groing and there are more signs that can tell like if the body is too lose and they cant hold them selfs (low muscle tone) and many other signs and they do not have to have all the signs to be downs.