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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ExpectingBabyNumberThree - 611 days ago.
Hi Ladies, With my first two pregnancies I declined the genetic testing but because I just turned 35 I decided with this pregnancy to go for the genetic testing. I got a call last week and found out that I am screen positive for 1 in 100 chance of Downs Syndrome. Since I found out this result my mom told me about another more serious genetic problem that runs in our family called 13/14 translocation. I saw a genetic counselor today and had further blood drawn today to find out if I am in fact a carrier of 13/14 translocation. My husband and I have refused amnio at this point because we aren't willing to risk miscarriage and we already know that we will not terminate the pregnancy regardless of the results. We are anxiously awaiting our ultrasound scheduled for next week which would show if the baby has the more serious 13/14 trans or possibly show signs of Downs. I am trying not to worry but it is so hard not to think of the worst.

Terry0822 - 626 days ago.
Hi everyone. I'm new to this board and I hope I can get some answers to my questions. I am turning 40 this year and pregnant with my first child from my 3rd marriage. I have 3 beautiful healthy children who live with me. My eldest son turned 19 in April this year and my daughter is 11 and my youngest son is 8 years old. My husband and I found out with the first trimester blood screen that there's a 1:2 chance that the baby has Trisomy 21. The NT scan also showed that the space measured 1.4mm which I believe is normal. Since then we've had our second trimester blood screen done and that test came back 1:50 for Trisomy 21 and everything else was normal. At my last OB/GYN appt. on the 14th of May, my doc commented that the baby's femur is very short. It only measured 31.5mm for 24wks and I believe it should measure between 40-45mm at 24wks. I then did some research and found out that a short femur is a definite marker for Trisomy 21. Everything else seems normal. I must just mention that the abdominal space measures normal and my doc hasn't found anything suspicious looking in those areas as well as the heart appearing to have all 4 chambers functioning normally. However, we all know that things could change and look very different when we see him again on the 19th of June. My husband is a very small person compared to me and I'm wondering if this is maybe not a contributing factor to the baby's legs measuring short. My instinct tells me there's something up with the litle one, but I just can't seem to find the answers. Is there any advice or help out there for an older worried mommy-to-be?

ambocash - 662 days ago.
Fourthlittleangel, I am just now seeing your post. I am so sorry to hear your news. I had a level 2 u/s last week. We were informed they found a 'marker' for t-18. They found 2 choroid plexus cysts. We were informed in and of themselves they are harmless but apparently are often found in t-18 babies. I was told because there are no other abnormalities (that they could see) that we have a great chance to continue on with a healthy pregnancy. We are awaiting the results of the AFP. I have not been able to focus or concentrate. My heart goes out to you and all other families who have been through this. I have many friends who are pregnant right now who can only talk about gender preference. I just wish they knew how little the sex of the baby matters when you are faced with news of a chromosomal abnormality that is 'not compatible with life.' I will continue to pray for you and your precious baby girl. God bless.

momtopeyton - 673 days ago.
i am now pregnant with my second child and the doctors all wanted to run all test looking for DS, me and my husband decided that know matter what we would keep this child also, so we decied NO to all test, i just have to keep believing that the LORD knows what he is doing with my life,

momtopeyton - 673 days ago.
i am 22 years old and my husband is also 22 we had our fisrt child just a year after our marriage, we were both 21 at the time of his birth.... this was my first pregnancy and through out all u/s and doc. appointments all was well, when my son was born at 37 weks he was dignosed with DS, and my world fell apart, all i could think about was all the things (they) said he would not be able to do or accomplish throughout his life, i could not figure out why they could not pick up anything on a u/s and why at such a young age this had happened, and i like all you other mothers facing this same situation prayed more at that time than any other in my life searching for an answer, My answer came i knew that no matter if i had known before hand i would not have terminated that pregnancy, my son has no health problems only a some outward apperance that does come with DS, but there is no way i could ever describe the way it makes me feel and the love that i have for this little man in my life, he is what makes me get up every morning, i know it is hard to even imagine but i can promise you that it is worth every tear that you cry,

ditmarstevens - 675 days ago.
I am almost 26 yrs old. I am already a mom of one chromosonally healthy 18 mos old. I am 19 weeks pregnant and found out last tuesday that our baby in utero had DS. I had 1 in 17 chance from a quad screen. Level 2 ultrasound revealed echogenic bowel, 7.7mm nuchal fold (nuchal cystic hygroma). Amniocentesis FISH results confirmed DS Trisomy 21. Fetal Echo and detailed anatomy this past Thursday revealed no apparent cardiac problems, no more echogenic bowel and a nuchal fold of 6.5mm. We still haven't decided whether or not to continue the pregnancy. I used to work with adults with cognitive and physical disabilties, including DS. I would love to hear anyone's personal stories through msg/profile. I am non disciminatory towards anyone's choices. I am a pro choice Canadian, please do not send hate/rude msgs regarding pro life or reiligion. Thanks :)

lovinmybebe - 678 days ago.
i was told that my baby had a 1:11 chance of having ds. he had an echogenic foci and an extremely thick nuchal fold. i had the choice to abort and i didnt, and i also opted out for the amnio. my baby was born and he doesn't have ds, and is a perfectly healthy 3 month old.

ellae - 690 days ago.
:) thank you!

affrikka - 690 days ago.
Ellae, I think you're the best:)

ellae - 691 days ago.
affrikka-During my pregnancy with my son, who is currently 14 months old, I was given a 1 in 8 chance of him having DS. He literally had every ultrasound softmarker. I opted to not have the amnio because i had an anterior placenta. When he was born he was proven to not have downs, but in the past month was diagnosed with a chromosone abnormality. There are different severities to different chromosone abnormalities. And I am SO THANKFUL for the fact that my placenta was anterior, and I did not have the amnio, because I know now that having a child with a chromosone issue does not change the fact that I love him, and he loves me. I couldnt imagine not having him here, or me deciding to have the amnio only to discover the abnormality and aborting him. It took a year for a diagnosis, and believe me I love him the same as I did prior to the diagnosis. The decision is yours to make, and we support you either way, but I know first hand, that knowing or not knowing, any diagnosis, you will love your child. And I thank God everyday for my son.

affrikka - 691 days ago.
I am 8 weeks pregnant at 36 years of age and have considered that there is a possibility of having a DS baby this pregnancy. My partner (47 yrs old) and I have discussed would we terminate if symptoms of DS were found during pregnancy. There are 2 things I cannot get out of my mind though. One is a story that happened to some friends of mine a few years ago- they were told they were having a DS baby and were advised (that the best solution was to terminate). They grieved accordingly, then accepted the fact and committed to going through with the pregnancy and raising the baby (mother was an OT). Their son was born perfectly healthy and they were thankful they didn't terminate, though they again went through the grieving process that he wasn't DS after all! The second thing is a Paramedic I used to date spoke of getting called out to DS children/adults who have died and was amazed at how much love is devoted to them by their families, and how much the parents and family actually grieve to have lost them. It feels like a scary road to commit to a baby who may be different, but it seems to me worth the journey as the rewards could be more than you know and there's always help if you need it.

fourthlittleangel - 701 days ago.
Mommies with a diagnosis of T-21 or possibly. My heart goes out to you all. Please find comfort in no matter what your choices are, you are a wonderful person. I would LOVE to have the diagnosis of T-21 right now. Down Syndrome children grow up to be happy adults that are loved by all who meet them. My diagnosis is T-18 with multiple abnormalities. It is rare and I don't have anyone to talk to. My baby will not survive. On the very slim chance that she makes it to birth, she will pass very soon after. I pray someday we can prevent chromosome disorders or find them immediately. I didn't find out until 20 weeks and I'm just devastated. If you have a T-21 diagnosis and you keep the baby, please give him or her an extra little hug for me. I will look at all children with Down syndrome in such a different way for the rest of my life. I pray that they are all taken care of and loved the way they should be.

Lilith - 715 days ago.
I was told that my baby runs a pretty high risk of having downs. I didn't want another child in the first place, and felt so guilty, thinking that it was something I did that could have messed him up, working too many hours, high blood sugar, no vitamins in the first month.... Two months ago I finally decided that no matter what, he is my baby, and will be loved. See, abortion isn't an option for me, I was forced into that at 19. And though I am not much of a kid person, no one will ever force me to kill another one of my kids again. (this time I will get my tubes tied, lol) I refused the amnio, he is what he is, and he is my son so why worry about it? Keep strong, ladies... everything happens for a reason!!,

luckymommy - 717 days ago.
recap--- at our 18 week u/s we found out our little girl had 2 marker for DS a dilated kidney and eif. at our 33 week u/s they were both gone! I had a c-section this afternoon and Julia was born 8 lbs 8oz and perfect! Good luck everyone!

luckymommy - 723 days ago.
Just seeing how everyone is doing?!?! Im having a c-section on Monday. I just cant wait to meet her....

Jennifer5 - 755 days ago.
Aubrey is 10days old today and she is beautiful. After I had her on the 12rh she had her shunt placed on the following Wednesday. I don't think I have cried or prayed so much in my life than in the last 10 days. It has been very difficult. The shunt is working perfectly but they couldn't get her off one of her meds without her bottoming out...blood pressure and heart rate goes down everytime they try. Yesterday she finally did it!!! Today she got her breathing tube out and so far so good!! She has to have another surgery next week if she stays stable through the weekend. Then she will be done until her heart surgery in a few months. I remember when I first found out that she had a soft marker for downs and how devastated I felt...I remember when some of you said you will love your baby either way...and I was still sooo upset. Now I know and see....I don't care at all that she DOES have downs. Compared to everything else it doesn't matter to me at all. I am excited to see her personality. The doctors say downs babies are wonderful happy babies, kids, people. And when I look at her I don't even see the Down syndrome. I know she will be extraordinary!! Please pray for my little girl...this is such a hard time to be positive and keep the faith as hard as I am trying. Thank you for your support and I am praying for everyone as well :)

luckymommy - 758 days ago.
At 18 weeks we found out that Julia had 2 markers for DS and EIF and a dilated kidney went today for a follow up u/s 16long weeks later and her kidney was perfect and the spot on her heart was gone! The Dr said w/ having a good result on our blood work we have as much of a chance to have a baby w/ DS as anyone. He also said that the 2 markers are very common, she looks so good! she is 5lbs 12 oz has lots of hair and chubby cheeks she is measuring 66%. Im just so happy right now and I want to thank everyone for there support and for helping me out! You ladies have really been awesome!

Jennifer5 - 771 days ago.
Went to the doctor today....had one of them visits where you hold back your tears until you reach your car and let it all out;( I asked my doctor about getting my tubes tied seeing how I will be 37 Saturday with soon to be 5 children and for the first time he said something negative to me. He said I shouldn't make the decision right now because I don't know how my baby is going to do. I know there are risks but I don't want to hear them right now. I am going to be induced next Tuesday and I am soooo scared. I been trying to be so strong and now I feel like I'm about to fall apart. She has a 1 in 3 chance of having downs but that isn't even phasing me anymore. I'm scared she won't make it througn the surgeries. What if the labor is to much for heart to handle?? For those of you who don't know she has a TOF heart defect and a double bubble which will both require surgery. One of which she will have the day after she is born. For the life of me I can't picture bringing her home...I try...but it all seems so unreal. I just want to be excited so bad..I am to see her face..hold her..kiss her. I don't know if anyone understands...I don't know if this is normal...Am i being negative or realistic. This is such a horrible experience that I been trying to find some positive in but I don't know what to do with myself right now. Sorry I just had to vent a little to those I know truely understand. Praying for all to be well for everyone:)

calileo98 - 771 days ago.
Hi Ladies. I am 35 and on pg# 4. We have 3 girls and just found out last week this baby is a little boy! After about a week of happiness, I had the genetic counselor call me today with the results of my Quad screening and it came back with a 1:85 chance for Downs. I am so stressed. We are scheduled for a level 2 u/s on Monday and possible amnio after. I am worried about the risks associated with the amnio, but am also concerned with the stress I know I will have not knowing for sure. I realize the u/s is just for soft markers and won't tell us for certain anything. I guess I'm just posting this out of stress and the need to connect with other mom's who have any understanding of this kind of situation. Thanks.

luckymommy - 799 days ago.
mom2dom thanks so much today was much better! i just can wait till the end of Febuary till she is here! wow sound so close.

mom2dom - 800 days ago.
BTW- My great aunt has a DS daughter and she is almost 50. She is an amazing person, communicates well, went to school, has a job, dates, etc. She is great : )

mom2dom - 800 days ago.
Luckymommy- I am so sorry you are stressed about not knowing. I had to know. My husband didnt want the amnio either, but I wanted to enjoy my pregnancy and not wonder up until the due date, I would have loved her regardless, but there if I knew ahead of time, I could have found groups in the community to join and get my resources together. When my amnio came back negative for Downs, I felt peace, but the peace was from just knowing one way or another. Cafemom has a great group for down syndrome moms and they were so helpful. I found that many of moms with downs kids didnt have any soft markers during the pregnancy...it was just a surpirise when they were born. My doctor did say he has never seen a false negative quad test...only false positives so I hope that helps.

luckymommy - 800 days ago.
Ugh im having one of my days where all i do is read about down syndrome.... I just wish i could find peace with whatever God has planned for us! At my last dr appt my dr did not seemed worried he just said all i can do is give you an amnio so you know for sure, but now my husband has changed his mind and does not want the amnio saying if she does have DS what can you do. and there is nothing i can do i just could get myself ready for whats going to be. i feel so selfish for all of this. BTW she has 2 soft markers she has calcium on her heart and her left kidney was dilated also my blood test came back neg. my next U/S is jan 20th ill be 34 weeks.

Steplaff80 - 800 days ago.
Hello everyone...I'm from the week 20 group. I'm getting a little nervous...My boyfriend and I are going this Friday to get my level 2 ultrasound, some blood work and for genetic counseling. The doctor told me that there is a marker on our baby's heart, and that this is normally common with Down Syndrome. They were not able to see much of anything at my u/s because the baby kept moving, so they are hoping to be able to give us more information. I know what is meant to be is meant to be, and I will love my little girl with all of my heart regardless of the outcome. She has already been such a blessing to us, and I wouldn't change any of it for the world!

Cindie - 803 days ago.
Ladies, Just wanted to tell you I have a 15mo old with down syndrome. I was 21 when he was born and I DID know before he was born that he had it. my lil man is a miracle in himself, and we are expecting his little brother anyday now. This new little one has tested Genetically normal, but I wanted to reassure those of you who are contemplating termination...... I DONT REGRET ANY OF IT. Yes, you have to consider taking care of a child with special needs but many of our kids go on to live semi independantly (meaning have a family member or nurse who checks on them daily but have their own home or live in a group setting). They grow up to graduate high school, some attend college and find love..... I have every hope for my little man. The life of someone with Down Syndrome today is NOTHING like it was 50 years ago or even 30 years ago. There are so many different therapies and opportunities these days that didn't exist before. If you want to ask me any questions feel free (just message me). I'm not judgemental of those who decide to terminate, I just know the joy my son has brought me.