Question regarding Tests for DS

[stormygdavis]

Hello, my niece just delivered a darling baby girl today, and found out she has DS. I was wondering if it is common to have had a specialist do an ultra sound a week before delivery, and not know the baby has DS? It would have been so much easier for my niece if she had been prepared for this, and I am wondering if this happens a lot?
The baby thankfully has not heart problems at this time, but she is deaf. She is only 5lb. 6ozs., but looks so very healthy and adorable!!!!
I hope I can ask this hear, I didn't have time to read a lot of it.

[Emilysmom]

WELCOME TO UNO MAS!!!!!

My own daughter's diagnosis of Down syndrome was made before her birth because of something that was found on an ultrasound.........but then, she had a defect in her intestine that was very easily seen and it occurs 99% of the time ONLY in babies with Ds. That led the doc to suspect it and do other testing. In a baby with no heart defects, no intestinal defects, etc, it would be harder to diagnose........although the new ultrasounds check so many things such as femur lengths, and other things that it is more surprising to me nowdays that it was missed. So, I'm sorry your niece did not get a bit of time to read more about Ds and to get mentally prepared. But, please give her our congratulations on the birth of her adorable daughter!! We are here, ready and willing to answer questions and support her!

What testing has been done to determine that she is deaf, so early in her life? Was there something that made them suspect it?

Susan

[wrblack]

Hi, you're quite welcome to ask that question here. Ask any questions you want to, here and on the General Forum. And tell your niece to come join us anytime she feels like it.
I believe obstetric sonography is successful about 80% of the time in detecting Down syndrome. Now, as to whether a perinatologist should have raised the possibility of chromosomal problem based on an ultrasound a week before delivery, dunno, depends on what doctor was looking for and what doctor saw.
My wife had numerous ultrasounds with Charlie, almost daily shortly before delivery, and, though we were aware of possibility of chromosomal problem, there were no clear markers for Down syndrome.
So, my best guess is not all that rare. And, of course, sonography is a screening test, would only be used to decide on further, diagnostic testing, like amniocentesis.
Regards,
Bob

[Valerie]

Hi, and welcome. Just thought I'd throw in my experience. There was no signs of DS showing up on my ultrasound or the triple screen blood test that was done, and my son had AV canal defect. Apparantly he had a huge hole in his heart that didn't even show up! So, no. Down Syndrome is not always diagnosed before birth!

[dannysmom]

Congrats on the birth of your niece. You have certainly come to the right place for lots of questions and answers.

I too found out at birth and had several u/s as well as a level 2 and my son did not have any markers. However, he did have a heart defect which required surgery at 8 weeks old. He is now a healthy 9 month old!! I don't know exactly what they look for when testing..but many times...even with u/s Ds cannot always be detected.

[Chris]

Congratulations on your new neice! I know several people who's newborns with ds failed their hearing test but are not deaf. Are they sure the baby is deaf or did she just fail her hearing test?

We suspected that Sarah had Ds during a level two ultrasound when I was 16 weeks pregnant. This particular ultrasound was done by a geneticist and she was specifically looking for Ds because of my age. I did have an amnio and found she did indeed have Ds. She also had a huge hole in her heart (av canal) that they missed during the ultrasound but was discovered during a fetal echocardiagram.

I think it is very common for Ds to be missed even when multiple ultrasounds are done. I wish your neice could have been prepared. Let her know that we are here and want a baby update when she and the baby are settled at home.

Chris

[Pat]

Congradulations! ;D
I did not find out until after John-John was born. I am NOT unhappy about that either. We have had the discussion here who knew before or after. (yes, there are somethings you could learn) How can you be prepared for an outcome of a life you don't know about. I was not upset about it my whole pregnancy, & I have a beautiful baby boy. Okay he's not a baby anymore he's 6 1/2 yrs old.
Remember, first she's a darling baby girl, DS is something she has, not who she is.

[caz]

congratulations! ;D.my little boy is nearly 2,we didnt know until Joshua was born that he has ds,it made no difference to us,we brought this little boy into this world.we are blessed to have such a special little boy!

[aimee]

Hi and welcome, and congratulations to your niece. My daughter Kenzie is now 8, I too had several ultrasound that did not show Kenzie had DS.I go back and fourth weather or not I would like to have known ahead of time. If I knew ahead of time I would not have been able to look into her beautiful eyes that let me know it would be ok. Holding her and seeing her helped me through it. The only thing that I feel bad about is that we found out 3 hours after she was born so it made the day of her birth a very sad day to think back on. It makes me feel very guilty that I was so sad that day, especally now knowing how very happy she has made us. So sometimes I think I would like to have known so that I could have prepared. So you see there are both good and bad to knowing ahead of time, but don't consentrate on that just enjoy your niece and you will see the joy she brings to your family. I hope this has helped a little. Aimee

[Debbie]

Stormy,

Hi and welcome to Unomas! I am so glad you posted. We will be delighted to answer any question's you have. I think you will like it on here.

My name is Debbie. I am not a parent but an adult who has Down syndrome. I have what is called, Mosaic Down syndrome. I am forty five.

Please let us know how your niece is doing and her little girl too. When she is able, please tell her about Unomas. There is alot of support on here for her.

[Connie]

Stormy,

Congratulations on becoming an "GREAT" Aunt.

I had an US at 20 weeks and it did not show any markers indicating he would be born with DS. I think it is a GOD thing that I did not know ahead of time. I got to enjoy my pregnancy and not worry.

Again, Welcome and I am looking forward to getting to know more about you and your family.

Connie

[Kristen]

Hi! I had a negative AFP, then due to my own problems, was sent for a non stress and level 2 u/s. The level 2 was done literally hours before his birth and it showed nothing. I wish I would have known there was a possibility even a couple hours before so that it coudl have at least been in my mind as a vague possibility instead of ARE YOU KIDDING ME? totally unexpected. WIsh your niece well...we have all been there!

[Claire]

Congratulation on the new member of our family. We new at 5 month of pregancy from a 3D ultra sound done because I ws in pre-mature labor. I wish I hadn't know as I worried for the rest of my pregnacy. But I'm still happy the docotrs were able to stop my labor and we have Adam.