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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ellae - 9 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 - 12 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 - 12 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 - 13 days ago.
anybody else had IEF at 19week scan? intracardiac echogenic foci? (calcium on heart) and come thru it ok?

kayandrysmom - 25 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 - 26 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 - 26 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 - 26 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 - 27 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 - 30 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 - 31 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 - 50 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 - 51 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 - 57 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 - 63 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 - 66 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 - 66 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 - 74 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!!

jhbmom - 87 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 - 90 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 - 93 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 - 93 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 - 132 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 - 146 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 - 154 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...