Trisomy-21

This topic contains 135 replies, has 74 voices, and was last updated by Profile photo of lucy45 lucy45 2 months, 3 weeks ago.

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  • #10429440
    Profile photo of i-am-pregnant
    i-am-pregnant
    Keymaster

    @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 : )

    #10429441
    Profile photo of i-am-pregnant
    i-am-pregnant
    Keymaster

    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.

    #10429442

    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….

    #10429443
    Profile photo of KayandRysMoM
    KayandRysMoM
    Member

    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

    #10429444
    Profile photo of m0ohaha
    m0ohaha
    Member

    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

    #10429445
    Profile photo of i-am-pregnant
    i-am-pregnant
    Keymaster

    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!

    #10429446
    Profile photo of Carolynej
    Carolynej
    Member

    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.

    #10429447
    Profile photo of Carolynej
    Carolynej
    Member

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

    #10429448
    Profile photo of jcblan1979
    jcblan1979
    Member

    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??

    #10429449
    Profile photo of Lisa33
    Lisa33
    Member

    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!!!

    #10429450
    Profile photo of mommykaren
    mommykaren
    Member

    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.

    #10429451

    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.

    #10429452
    Profile photo of leslh
    leslh
    Member

    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!!@@

    #10429453
    Profile photo of momofalmost5
    momofalmost5
    Member

    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

    #10429454
    Profile photo of ellae
    ellae
    Member

    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!

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