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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mom2dom - 2 days ago.
I had a soft maker at my 19 week appointment, too. Mine was small nasal bone. My doctor said that 3/100 babies with a small nasal bone will have ds. This worried me bc i am 26 and was in a veyr low risk group and the finding put me at a 3% risk. I had the quad screen which came back negative, and then I had the amnio. My amnio results came back normal and I am so relieved. It also confirmed I am having a girl! Yay. Waiting for the results was a really difficult time for me, though. My doctor had told me not to worry about one soft marker, but I am a worrier, so we went ahead with the testing and amnio.

Lisa33 - 3 days ago.
My ultrasound went good. There was still a little white spot (Echogenic Intracardiac Focus) on her heart but nothing on the bowel. The doctor said it's pretty normal and she does not have any other signs so she does

Jennifer5 - 4 days ago.
I havn't been on here for 11 weeks now so I just wanted to share my updates. I am 31 weeks and 2 days now:) I had to find a peace with in myself to try and cope with the stress and negative random thoughts that overload your mind when you find out that your baby has a hard journey in front of her. I never did get the Amnio..I just couldn't take anymore bad news. With the 5 soft markers (bright spot on the heart, heart defect, double bubble, sandle toe, and enlarged nuchal fold) for Downs I just went ahead and accepted that she has Downs and if she doesn't than I will be pleasently surprised!! I have had to see the baby Cardiologist a few times now and my little girl has a TOF heart defect but her pulmonary artery has been growing which will buy us some time before her heart surgery. She also has the 'double bubble' sign and they havn't said much on that. The doctors say that they will not know the extent of all her complications until she gets here:( I was doing pretty good until recently...at first I didn't want to pick out a name..I didn't want to buy anything..I was accepting and expecting the worse possible outcome. Finally I picked out a name 'AUBREY' and I went and bought her some things but even now when I'm in line to buy it I stop and think about how long is she going to be in the NICU..will she be wearing the little hospital gowns...should I be buying for a 3 or 6 month old baby and not a newborn:( I also went and got a 3D u/s which I'm about to post if anyone would like to see...she is absolutely beautiful:) Now I'm on the home stretch and I'm getting scared and nervous. I know she has 2 major complications that are so much worse than Downs but I still don't want her to have it and I worry about all of it a lot lately. I did think long and hard about whether or not to terminate or not and I don't judge anyone who has decided to go a different route than I...It is truely a hard decision to have to make either way. I myself just couldn't do it..I gave it to God and hope for the best:) This has and is definitely a life changing experience and I wish the best for all of you and believe everything is going to work out the way it supposed to.

Lisa33 - 5 days ago.
I had my Dr. Appointment yesterday and it didn't go very well! We went over the ultrasound and they found a bright white spot on her left ventricle of her heart (Echogenic Intracardiac Focus)and on her bowel (Echogenic Bowel). She said they wouldn't be to concerned if it was one or the other but because it was in both area's they are concerned because kids who have been born with down syndrome had this situation. My quad test which screens for down syndrome came back negative which is good but that's just a screening. I have to go to the hospital tomorrow at 7:45 am to see a high risk doctor and have a high tech ultrasound. Depending on what they find I may have to go for counseling on the amniocentesis and make a decision if we would want to have it done or not.

3rdbabyat38 - 5 days ago.
I have chosen not to do any of the advanced maternal age testing because I didn't want to worry and I knew that it didn't matter if this baby had downs or not it wouldn't change my mind on having him/her. I go for my ultrasound (routine) 20+ week in 8 more days. I will be 22 weeks and I think they call it an anatomy scan. I am not any more or any less nervous than when I was 26 and 29 having babies. I know that there was a reason that this baby has come into my life and whatever will be will be. I feel for all of you who have been stressed and worried and I hope that all is well. xxx ooo

dehlia1970 - 11 days ago.
I really appreciate everyone's updates! I esp. appreciate the hard choices that some of you have shared and feel that the decision to keep or terminate a pregnancy of a down baby is SO PERSONAL and so incredibly difficult that there is really no place for anyone to judge. I'm sure a down baby is cute and precious, but I'm also sure that taking care of a disabled person for the rest of your life is an overwhelming thought. Thanks again to all you brave ladies.

erikatx - 12 days ago.
it breaks my heart to come on hear and read these inquiries from mothers who might be carrying a child with down syndrome ... to only find that they have deleted their account. As a mother of a precious baby with down syndrome, I cant ever image not having him in my life. Having a child with down syndrome is not a curse, it is a chance to feel love at a totally different level you never knew exsisted.

ellae - 23 days ago.
The triple screen testing is bologna.. I had 1 in 8 chance of my son having downs, with multiple ultrasound soft markers, including short femurs, intercardiatric echogenic focus... granted he was born small for other reasons, he was born with out downs.. I opted to not have an amnio for the reason being that id love him regardless, I did end up needing an amnio the day before I turned 38 weeks to check for lungmaturity, which put me into labor. Ladies I know its stressful to not know, and its stressful to see the numbers and read the reports and see what COULD be happening with your baby, but that baby is still the same baby you loved before the testing, and will be the same baby you loved after the results. Try to enjoy what time you have left with them in your bellies, I wish I could have.

kayandrysmom - 26 days ago.
misty-if you read my post just below yours you will see its possible. My friends baby had them on her heart...she is now 2 weeks old and perfect

kazl - 26 days ago.
hi, my triple blood tests have come back as 1 in 98 chance of downs,im having amnio on monday, really scared and worried. x

mistymisfit - 26 days ago.
anybody else had IEF at 19week scan? intracardiac echogenic foci? (calcium on heart) and come thru it ok?

kayandrysmom - 39 days ago.
My best friend had the news of calcium deposits on her baby girls heart at 19 weeks also. She did not get the blood tests for DS early on bc she wouldnt have aborted anyway...but there were no other markers for downs. While checking that they thought they saw something wrong with the babys lung also. This baby girl is my goddaugther and it was a very hard pregnancy for my friend. Well my beautiful goddaugther was born just 3 days ago...Oct 11 and she is perfect!! :)

Look-whos-Talking - 39 days ago.
i have had tests come back like this with my first he turned out just fine and no ds. so don't belevie them till your baby is out

luckymommy - 39 days ago.
had our 18 week u/s our baby girl has 2 soft markers she has calcium on her heart and a dilated kidney im now waiting on my blood work to come back and then ill be getting the amnio.....

Look-whos-Talking - 39 days ago.
I had my tests come back positive for 21 the heart is fine normal the neck had 4.2cc of fluid. but I don't care I will just spoil her yes baby girl!

klderoos - 41 days ago.
I hd my 13 week scan today and the nuchal results were less than promising first of all my age 34 puts me in the high risk arena of 1:335 and then my babies measurments came in and gave a result of 1:107 my babies average measurment was 3mm I am having bloods done in a week or so but apparently have to wait for the result if it comes back with an excellerated risk we will then have to decide on the amnio! Everyone says try not to worry but they might as well be saying try not to breathe! My heart goes out to everyone who is worrying and grieving.

babyonboard1209 - 43 days ago.
hello, ok at 13 weeks i had a blood test and ultrasound for DS, the tested the skin behind babies neck and it was normal, the blood test didnt come back that well, my chances came back 1 /225, 2 out of 3 of the thing tested in blood were normal, Bhcg level was high. after talking with genetic counselor i chose to have another u/s to find markers / none were found so my chances went up by half 1/450 but still dose not say if baby has it, but i chose not to have amino done due to risk of miscarriage, about 4 weeks ago at 28 weeks i had another u/s to look at markers again couldnt find anything, but baby would not turn around to see her face, so i go back monday 10/12, can they tell if baby has DS at 32 weeks by looking at her face

dehlia1970 - 44 days ago.
Thanks to all the ladies who have posted their stories about the Nuchal, Amnio and CVS. I appreciate reading all your stories and outcomes - so thanks for sharing! I myself am having an amnio next week because my NT came back at 1/115. I know it's less than 1% chance but still worrisome seeing as how I'm 39! The decision to keep/abort a down baby is such a personal one; it's amazing to read everyone's journey and feelings about it. I'll keep you posted on the amnio results in about a week. Wish me luck!

clara16032010 - 64 days ago.
Hi all, i'm 14 + 4 weeks pregnant with our 7th child. I am 34. I went for my nuchal scan last week. The lady scanner seemed to be in a hurry (late afternoon appt.) and only spent 5 mins or so scanning me. But because of my increased bmi although not massively overweight she was unable to complete the nuchal scan. I now have to wait until my 16 week appt. for the blood tests. I have never been worried about this before, as all my other pregnancies have been under the age of 30! But with this pregnancy i am. How long after the bloods are taken do the results come back?

hollyjh - 65 days ago.
This will be my first child. I was told tuesday that my afp came back positive for ds. I was really upset with the way my doctor told me, but after talking with my soon to be hubby, I felt much better. We decided no matter what, we were keeping the baby and didn't want to risk a miscarriage by doing an amnio. We are having a Level 3 ultrasound on Oct 7th and can't wait to see if we are having a girl or boy.

andy79 - 70 days ago.
I am 12wks & 4 days pregnant and have had my 12wks ultrasound, results came back with my baby having 1 in 7 chance of trisomy 21. I am having a CVS done next week to tell me if the baby does have DS? I am only 30yrs old, and am very worried. I want to hear from any other people who have had a CVS and if they found the procedure to be painfull and if the results were 100% correct? Also how long did you have to wait for the results. I look forward to hearing from any of you.

erikatx - 77 days ago.
i just wanted to add my personal experience. As of today, my little boy is 16 days old... and he has downs. But he truely is an amazing little boy and I do not regret him one bit. We are blessed to have him in our lives! When I was pregnant, I had only one soft marker in the ultrasound (echogenic bowel) and my blood work came back 1:37. We did several Level II ultrasounds and they did not show any other markers, so we were confident (at least that is what we tried to tell ourselves) that our son did not have downs. We did not have the amnio. We figured it wouldnt make a difference. WE would keep our little one regardless. And I am thrilled to be his mommy and very proud as well. I am here, should anyone need to talk! -Erika

Jennifer5 - 80 days ago.
I am 20 weeks, I was on the VM forum and this week I found out that our journey is bringing us to the Trisomy 21 board...I havn't had the amnio and for some reason I just can't bring myself to get one but I am 36 and there are multiple soft markers of downs on the scan( They say my baby girl will need heart and intestinal surgery soon after birth. She has Ventricular Septal Defect, a possible Truncus Arteriosus, a sandle toe (gap between the big toe and second toe), and duodenal atresia (intestines did not properly develop) The fold in her neck was said to be enlarged...I think I'm kind of in shock. I don't know what to do. Is it selfish for me to keep this child knowing her life will be so challenged? Would that really be fair? I want her and I don't want to terminate but I don't know if that is the right thing to do??? I have another scan on the 17th with the ped cardiologist. I just can't stop crying..I'm at a complete loss.... has anyone been in a simular situation???

lostinasia - 80 days ago.
I'm 33 years old and 15 weeks pregnant. My doctor suggested that I have amnio as I'm closing in on the higher risk maternal age??? My baby's due in Feb and I don't turn 34 till late March, so I don't understand why I need to have it done, and am really worried and scared. We have been scheduled to have an amnio done in two weeks...Any advise would be helpful. TIA

mommyin2010 - 87 days ago.
I'm 26 years old and having my first pregnancy. The doctor called yesterday and said that my blood work came back with a 1:13 chance of down syndrome. I am terrified and shaking in my chair. I've done a lot of research, and 'false positives' seem to be pretty common, but 1:13 seems like the odds are not in my favor. I have a horrible feeling. We have a Level 2 ultrasound and an amnio tomorrow. I'm just sick with fear. I honestly don't think God wouldn't give me anything I couldn't handle, but I fear that my husband and I won't agree on what to do next if the baby does indeed have DS. I'm a mess and would love to hear anyone's story and advice/info if they've been in a similar situation. You can even email me personally at jennnleonard@gmail.com (there's 3 n's in that!). Thank you!!