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.
carolynej -
543 days ago.
Hi Ladies! Today has been a very emotional day for me. My Dr. called me today to give me the results of my first trimester screen. All my test came back good EXCEPT that they couldn't see a nasal bone. Which is naturally freaking me out!!! The Dr. told me not to worry because the probability of having a baby with Down Syndrome is .3% or 99.7% chance of having a healthy baby. However, I'm a mess because in researching online, it seems that the absence of a nasal bone seems to be a huge marker for babies with down syndrome. SO DEPRESSED and AFRAID:(
mjohnson33 -
545 days ago.
had my 20 week u/s yesterday and they found 1 soft marker for DS. My baby's nuchal thickness was at 6mm. They gave me between 1/35 & 1/50 chance he has DS. I did elect for the quad screen blood work yesterday. Then onto the amnio to know for sure. I am so shocked!!!
jecababytaz -
566 days ago.
HELLO MOMMIES!! WELL ON FRIDAY I FOUND OUT IM HAVIN TWO GIRLS IM HAPPY BUT STILL NERVOUS N ANXIOUS CUZ OF MY U/S SHOW DAT MY BABIES DNT HAVE DA SOFT MARKS OF A DS BBY SO I DID ASK DA DR IF I SHOULD CONTINUE WORRYIN ABOUT MY BBY HAVIN DS N HE SAID NO EVERYTHIN LOOKS FINE NORMAL BBIES DNT SHOW ANY OF DA SIGNS OF A DS BBY SO I WAS HAPPY UNTIL MY PRENATAL APPT WIT DA DR DAT REFERRER ME 2 DEM N HE WAS SO UPSET CUZ HE SAID DAT HE SHOULDNT HAD TOLD ME DAT I SHOULDNT WORRIED ABOUT IT NOMORE WHILE HE WAS PREPARIN 2 DO DA AMNIO WHEN I TOLD HIM DAT IM NOT GOIN 2 DO IT N HE GETS UPSET N STARTS TELLIN ME AL DA CHARECTERISTICS OF A BBY WIT DS HE MADE ME FEEL REAL BAD BUT I STILL TOLD HIM IM NOT GOIN 2 DO IT N HE ASK ME WHY HE WAS A REAL PUSHER SO HE SENT ME HOME N TOLD ME 2 CALL HIM BAK 2 HAVE IT DONE ON MONDAY OR TUESDAY BUT I DIDNT CALL HIM IM NOT GONNA RISK MISSCARRYIN DA TWIN GIRLS N IM JUST HOPIN 4 DA BEST SPECAILLY CUZ I STILL HAV E DA HOPE DAT WAT DA SPECIALISTT DR SAID N DEY R FINE IM AROUND MY 20 WEEKS IM 24 YRS OLD MOM OF A 8MTH BBY BOY N FUTURE MOMMY OF TWIN GIRLS MY RATIO OF A DS BBY IS 1:109 CUZ OF MY FIRST BLOOD WORK, IF ANY ONE CAN RELATE 2 MY SITUATION PLS CONTACT ME I NEED SOME SUPPORT, N ALSO IM CHANGIN OB GYN 4 MY PRENATAL CHECK UPS BUT IM STILL SEEIN DA SPECIALIST DEY SENT ME 2 AT BAYLOR CLINIC IN HOUSTON TX!!!
RachieRay82 -
572 days ago.
I'd just like to share with you all that my 22 year old brother has Down Syndrome and is fantastic! Sure it hasn't always been easy for my parents as he has his share of problems (who doesn't?!), but he's always been a blessing to our family. I understand the worry of moms-to-be who haven't had any experience with it, but your baby will be perfect, regardless of any disability s/he may have. It's easier said than done, but don't worry, it's not the end of the world... just requires some adjustment in plans! The more you learn, the better you'll feel.
MrsD -
577 days ago.
Just wanted to let you all know I had a perfectly healthy little girl last Friday. She is amazing. All that worry for nothing. I have to say I agree with calileo98 we have to remember they are just statistics.
calileo98 -
580 days ago.
Just wanted to post on here and let you all know that on my full integrated serum test I ended up with a 1:84 chance of DS. I am 35 and had 3 other pregnancies prior. Needless to say I was completely stressed out and after a level 2 ultrasound that showed no soft markers and a long conversation with my husband, we decided that we were NOT going to do the amnio. I can't say for certain if that is the right answer for everyone, but I just didn't want to take the risk (small as it was). So I worried off and on through the entire rest of my pregnancy, and did the best I could to give it over to God. My son was born a healthy normal little guy 4 weeks ago. The delivering Dr said 'I hate those screening tests, they are so mis leading and cause way to much undue stress.' I have to say I agree with him. Keep the faith ladies - Regardless of the #'s, the odds are actually with us. :)
riknlee -
586 days ago.
Hey everyone, Just letting you all know that amnios are not painful, you hardly notice it is even being done. So if you are debating whether to have one or not, just do it. I was worried about the risk of miscarriage but honestly these days there is virtually no risk.. I have also had a CVS which was a little more uncomfortable but still worthwhile having. Please let me know if you have any questions
Shelly -
587 days ago.
Hi ladies,
I just had my NT scan done yesterday at 12w5d. The fold was measured at 2.5. The Dr. seemed a bit concerned since this is on the high side of normal. Bloodwork was taken and I won't get those results until at least Friday. I really do not know what to think at this point. I know they like to see numbers between 1 & 2. However, a little bit of research that I was able to do on my own did say that the optimal time to do the scan is 11 weeks, and the longer you wait, the higher the number would be, and that you shouldn't go past 13 weeks. The Dr. didn't leave me very reassured as I left the office yesterday.
MrsD -
588 days ago.
I am so happy and relieved for you mrsword77. You can enjoy the rest of your pregnancy now. It must have been such a stressful time waiting on those results. I am going to be induced on Friday cant believe I have gone 6 days over!
mrsword77 -
588 days ago.
Amnio results say that all is well with my little one. Yaaaayyyy!
mrsword77 -
596 days ago.
Well now I'm just waiting on results from amnio. Everything looks good on the level 2 u/s. The amnio was totally painless and uneventful. I was on bedrest for 24hrs but had no cramping, bleeding etc. Thank God! Surely the wait time for the results will be excruciating. I'm glad to hear everyone elses great news though.
MrsD -
596 days ago.
mrs.error08 and ExpectingBabyNumberhree, I am truly happy for you. You can enjoy the rest of your pregnancies now.
ExpectingBabyNumberThree -
596 days ago.
That is great news mrs.error08! That is so sad that you stressed for two weeks because of human error. I had an ultrasound today and my baby looks healthy. No soft markers for Down's Syndrome and it's a girl!
mrs.error08 -
598 days ago.
So after 2 weeks of stressing my genetic counseling and level 2 ultrasound was scheduled for monday. Received a call yesterday from the doctor saying they entered my due date wrong and once they put the right date in and compared it with the blood test results, all is fine! Thank God! Such a relief! I just hate I was so worried for 2 weeks before someone caught on to this!
erikatx -
598 days ago.
I know being pregnat and facing the possibility of having a child with Ds is scary, and there are no words that can take that fear away... but I promise, whether your baby does or does not have Ds.. they will be perfect... and everything will be ok.
011510 -
598 days ago.
Ladies. I was givin a 1:11 chance of having a baby with DS and he came out without having it. There is hope! Message me if you have any questions! Keep your heads up!!
Bastet -
601 days ago.
I had my 4th US today which revealed echogenic cardiac foci. This is present in 20 percent of DS cases. There were no other soft markers noted and my maternal serum test was negative. This makes my chances 1:100 of having a child with DS. The same percentage of having a child with autism. My nephew is autistic. 1:100 doesn't seem too encouraging to me anymore :o(
mrsword77 -
606 days ago.
MrsD and TurtleMom, thanks 4 the encouraging words. All this stuf is just so scary......I surely will keep u posted on the results. MrsD, I know ur baby will b perfect. Let's KIT.
turtlemom -
606 days ago.
Hi MsWord, I had an amnio and it was not a big deal. My Peri made it as comfortable as possible. It was odd watching the needle go in my belly and see it on the flatscreen TV in front of me.
MrsD -
607 days ago.
I didn't have an amnio, however my friend did. She was 1:35 pos for downs and when she had her amnio the results were negative. She has just had a perfectly healthy little boy (she is 39). The Doctor told her the risks of amnio and she to have bed rest for 3 days afterwards. She said that she had some cramping for about 24 hours then everything back to normal. I decided not to go ahead with the amnio but I must admit now I wish I had. I think if you know one way or the other you can prepare yourself. That said our chances are very slim of having a baby with DS. Our age is the biggest contributing factor in the score. Please try not to worry and let us know how things go at the amnio.
mrsword77 -
607 days ago.
I have been up all nite after receiving the call from my doc. Results from my 1st trimester screen say I am 1/116 pos for Downs...amnio is sched for next friday 6/25/10. I don't know if I can handle this. I pray for God's Mercy! ={ NOT A GOOD DAY!!!!! I miscarried last year @ 17.5 weeks. This is my second attempt and I am now 35 yrs old. With the previouus pregnancy, my results came back fine, but still ended in miscarriage. My husbnd and I are at different ends on proceeding with diagnostic testing. He does not go 2 doctors 4 himself unless I make him. So he is anti-healthcare if u ask me. It really pisses me off. But I feel like I need 2 get the amnio 4 my own sanity. I know that I will luv my child regardless, yet I understand if the results aren't favorable, it will b a difficult journey ahead. I know my risk appears 2 b about 1%, but my chance of brain tumor was much lower, yet I had one. Also I hv a daughter that is 16 & we did not hv these screenings dun at that time. Sometimes knowledge is power and sometimes its ur worst nightmare. I'm praying for us all. I truly applaud all of the families on this forum. Any decision u make is an arduous task. CAN ANYONE SHARE THEIR AMNIO EXPERIENCE? TTYL
MrsD -
607 days ago.
My thoughts are with you mrs.error08. I was in the same position but I am 35. and was a 1:243 risk. After the ultrasound I felt very comfortable that everything was going to be okay but I am really scared at the moment. as my due date gets nearer. What you need to think about though is that this is just a statistic at the moment. I mean you have a greater chance of being hit by a car (that is true I've looked at statistics). Please try not to worry.
mrs.error08 -
607 days ago.
My blood test results came back that I had a 1:46 chance of having a baby with down's syndrome. I'm going on June 28th to have the level 2 ultrasound. My doctor and the papers they sent me in the mail say we will discuss an amniocentis but I've already decided against it. It's not worth the risk when no matter what the result I'm going to keep the baby. It would be nice to know but I just don't want to take the risk. I'm 20 and my husand is 24 and we have an 18 month old son together and we're really praying everything comes fine with the ultrasound which will ease my mind some.
MrsD -
608 days ago.
I had the double test at 16 weeks which came back with a higher than average risk of the baby having DS. My husband and I decided not to have the amnio due to the high risk of MC. The scan didnt show any soft markers however that doesnt mean that the baby doesnt have DS. I am now 38 weeks and the closer I get to delivery the more worried I am. I wish now that I had never had the double test. I cant enjoy the pregnancy for worrying. That said I will love this baby no matter what but I feel quite scared about the whole thing.
Leave a message Become a member to be able to comment.
(Sign up) It's all free, no email is required.