Down Syndrome/Trisomy 21

I have never posted to a message board so I hope I do everything okay!

I currently have three beautiful boys (5yrs, 2 1/2 years and 7 months) all of which are healthy (my second son had a very rare heart defect but was fixable). Sept. 9th I went to my OB's with, what I thought was a period that was lasting a month and a half, but it turned out I was 11 wks pregnant. It was surprising! They detected a blood clot that they felt I was bleeding from. I have suffered 2 miscarriages previously in between each pregnancy that went to term, so was concerned of miscarriage. I was also concerned that we had not been followed by the fertility specialist at the beginning of the pregnancy like the other term births. I have always had low progesterone in the past and had to take supplements. (At 11 wks my progesterone was normal this time.) Therefore, I decided to have the first trimester screening done even though my husband and I have never done it in the past because we would not terminate. My husband was against it but I felt strongly compelled to do it this time (is that a sign). The US indicated the finding of a nasal bone and the NT was normal, except they saw another empty sac and believed that I may have started the pregnancy with twins and that was why I was bleeding. The blood work came back this Monday that we have a 1 in 92 chance our baby has downs. I am 30 yrs old and the Pappa was very low (.19) and the free beta hcg was elevated (1.55). They have recommended an amnio but I am very concerned about the risk and would not terminate. We have talked about waiting until the 20 wk level II (which we were going to have anyway because of my second son's heart defect and my husband's heart defect) and then maybe re-evaluating if we want to do the amnio. I not sure if I can wait until the birth to find out for sure. I am very much a planner and have been crying a lot since I received the news. I have so many concerns, the health of the baby being number one and what type of life the baby will have, how it will affect my current children, how it will affect my husband and I, and a million other things. I feel like once I know the baby has downs for sure then I can finish my crying and move onto the researching and planning stage so that I can be the best Mom to this baby that I can. I'm having a repeat c-section and I'm concerned if they will take the baby away right after it's born and I won't get to hold him/her like I did my other children. I want him/her to feel safe with it's mom. I am also concerned about the stress of not knowing while on the operating table. I already have a very difficult time with my blood pressure on the operating table because I get so anxious. My husband is very supportive of what I want to do about the amnio but he says he has no concerns about the baby having downs because he saw him on the US kicking, having a strong heart beat and the measurements were good. I'm not sure if he is saying this to try to calm me down.

I'm sorry this is so long but I'm wondering if anyone has some advice if the risk of the amnio is worth it.

Thanks to anyone who will listen and help during this very confusing and difficult time.

Hello there... I have a 7-month-old too! :o)

I had an elevated risk due to an abnormal quad screen, but I opted not to have the amnio and dismissed the whole thing in my mind.  I know now that this was for my best, to not have that information during that time. That's not true for everyone, but I also felt that NO risk was small enough as far as the amnio goes.

My general response to most is that if you HAVE to know, like can't live if you don't, then the amnio is probably your route.  But maybe it's possible to learn about DS a little, know what is important in the beginning (which is really just to love that baby like any other baby!), and take care of yourself in the meantime and be prepared either way. The level 2 may give you some info (I had a couple of them and no one saw any markers).  Only you can know what you "need" to know at this point.

I pray for blessings and health for you and your precious little one! And as Missy said, don't hesitate to ask questions, anything at all about life with DS... we don't mind! :o)

RK
AKA Braska's mom

Nebraska Larae 11/21/06 DS
--AV canal repair 2/28/07
--G-button 9/10/07
--Glasses 12/24/07
Kinlee Carene 02/09/09

Braska's blog http://braskabear.blogspot.com
RK's blog http://justrk.blogspot.com
Kinlee's Blog http://kinleecarene.blogspot.com

Hi,

Congratulations on your pregnancy.  I wish you the best for you and your family.  It is hard to give advice on something like this because it is a very personal decision.  My 6 month old has DS, she was my second child, and was born when I was 29 years old.  I didn't have any prenatal screening for Down Syndrome.  My uncle has DS so I didn't feel I needed to know before birth about possible Down Syndrome risk.  Nothing abnormal was seen on either of my ultrasounds.  I found out she has Down Syndrome about an hour after she was born, but my husband found out immediately.  It was scary and emotional for a couple days, but she is not much different from my first daughter.  Just one day of PT a week and a few pounds lighter.  She is completely healthy, just some low muscle tone. 

I think it would be hard to know you are at risk and not know for sure, but I would be playing the cost benefit analysis in my head.  You are putting your baby and you at a very small risk with an ammnio, for what benefit?  So you can feel better a little sooner? So your family can get used to the idea faster? So you can educate yourself now? You just have to decide if the reasons on each side tip the scale in one way or the other.  Hopefully no one will judge you for either decision you make, it is what is best for you and your family.  Maybe in the future when they are doing lots of prenatal heart surgeries and it is no big deal, then maybe that would be a big advantage to know early.  But not all babies with DS had heart problems.  My daughter had PDA (holes in her heart) for the first few weeks of life, but they eventually closed and now has a perfect heart. 

I wish you the best of luck with your decision. 

Angie

Hi there,

Congrats on your pregnancy.  I have a 18 month old daughter with DS.  Her name is Reese and she is my first child.  I do not have much advice because I did not know prenatally.  I was 32 years old when I was pg and my risk was 1 in 300.  I guess I just happened to be the one!  My bloodwork and NT scan was "normal" and gave me around a 1 in 1300 chance (don't remember the exact number).  At my 20 week ultrasound I had one soft marker (dilated kidneys) which increased my risk to 1 in 300.   So I was followed every 6 weeks with level II ultrasounds.  By my second level II, the kidney dilation had resolved.  No other markers were found.  The doc did offer me an amnio by said that he was not necessarily recommending one since my bloodwork was fine and he saw no other markers.  So, I opted for no amnio mostly because the thought never crossed my mind that my child could have DS.  So, we found out the day after she was born.  It was very difficult at first and at that time I wished that I had known.  But, now I don't know that I feel the same way.  I think I would have worried needlessly.  I really knew nothing about DS. 

So, that is my story....Also, please know that not all children with DS have health problems.  Reese was full term.  I had a vaginal delivery.  She never spent any time in the NICU.  She did have a PDA which is a valve in the heart that is supposed to close within 72 hours of life.   Hers was not closed at first (this can happen to typical kids too) but later closed on its own.

Congrats again and please feel free to ask questions!