A.H. asks from The Colony, TX on September 21, 2006
Quad Screening Positive for down Syndrome
I was wondering if anyone that had an abnormal quad screening result could share their experience with me. I was told yesterday that I have a 1 in 34 chance of having a baby with down syndrome, which has thrown me into an emotional wreck since I'm under 30 and always heard it is very unlikely for anyone under 30. We will be meeting with a genetic counselor and having a 2nd level sonogram this coming Monday. I have mixed feelings on getting amnio because of the potential risks, but of course, I'd love to rule out a false positive if that's the case. I'd love to hear experiences that anyone else had with this... both good and bad. If anyone got amnio, what was the experience like & did you do it on the same day as your 2nd level sonogram?
Thank you.
3 moms found this helpful
So What Happened?™
I just wanted to say thank you to everyone for your genuine and caring messages. I was touched by the stories of both the moms who had children with down syndrome and those who everything turned out okay for.
We opted to do amnio just to know, and the baby appears to be healthy! We know that no matter what the outcome would have been, we would love OUR baby unconditionally!
Anyway, thank you all for your support! The personal accounts are what helped me get through this more than you could know!
Featured Answers
S.S. answers from Dallas on September 21, 2006
I have not been through this, so all I can say is hang in there. Remember that based on the odds you cited, you have a 97% chance of having a perfectly healthy, normal baby. That is really high.
1 mom found this helpful
L. answers from Dallas on September 22, 2006
I know that is really difficult. When I had a level 2 sono. the doctor saw a cyst on my daughter's brain. In most cases, the cysts disolve, but it can indicate Down's. She was fine, but I had to wait 4 wks for results. I had 2 amnios. For me , the peace of mind was great. I was over 35 both times. Getting an amnio is a very personal decision. I have friends that would never get one, no matter their age, but for me it worked out fine! good luck to you!
K. answers from Dallas on September 21, 2006
I was 28, 19 weeks along in my second pregnancy, and my first healthy boy was only 15 months old, when I found out that the baby had 2 soft markers for DS. I chose to have the amnio. I don't think I could have made it through the last 4 months of pregnacy not knowing and worrying every day. We found out 2 weeks after the amnio that we would be having another perfectly healthy baby boy! I remember how devastated I was before the amnio, so I know how you are feeling, and my thoughts are with you. I'm wishing you all the best.
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J.V. answers from Dallas on September 22, 2006
I am going to give you my personal decision and that is my advice to you - it is a personal decision. I can tell you I did have a daughter with Down Syndrome and she is the joy and the best thing that has happened to me in life.
I chose not to have the protein test as it is about 40% false positive, like flipping a coin. I chose not to have an amnio because I spent 6 years trying to get pregnant and the risk of miscarriage is about the same as having a child with Down Syndrome. Ultimately the test was not going to change my decision and while it was tough to learn in the hospital, I saw this beautiful baby that needed me and that was enough to deal with it. She is healthy, walked at 15 months and now at almost 2 is happily in preschool at a school focusing on developing children with Down syndrome to get ready for school.
It makes me sad to see some of the responses from other mothers. We all expect to have 'perfect' children but I can tell you my daughter has changed my perspective on life, happiness and frankly, made me a better more accepting person. There are many worse things to deal with than Down Syndrome and some of you may not know about for years, possibly teenage years, with 'perfect' children.
I have met some of the most wonderful parents through the Down Syndrome Guild -- some 'older'(over 35) but most had their child at 30 or younger. One girl had her daughter at 19. So while the odds are higher with age, it is not directly tied to age.
The reality of life is that you never know what God has planned but I believe there is in fact a plan. There is no question I would rather that Olivia not have Down Syndrome but to not have Olivia in my life is unthinkable. She has touched everyone that meets her in the same way and she could not be more loved by our family and friends. Good luck on whatever you decide is right for you.
2 moms found this helpful
C.B. answers from Dallas on September 22, 2006
My girlfriend carrying twin girls had multiple test showing positive for down syndrom. Then, one baby was growing too fast and the other too slow. She was told one probly will not survive. In short, We stood on our faith in God, remained steadfast in prayer, regardless of what the doctors were saying, and today we have 2 - 10 month old beautiful perfectly healthy baby girls. If you would like, I can call her to contact you for more info on the different testing. I hope you do not take offense to my faith, but without it, there is no hope. May God bless you and your baby.
1 mom found this helpful
S. answers from Dallas on September 21, 2006
Dear A.,
Believe me, I understand how you feel. Before I started graduate school, and working with children who have DS, I too thought it was typically a situation that was found with older mothers. However, since my experiences had shown me this was not the case - when I received my abnormal screening, I knew the chances were very real. When I spoke to the nurse about it, she told me how rare it was. Yet, I couldn't help feeling annoyed with her comment - because when you are that 1 in whatever the current statistic is, the other half of the statistic does not matter. To further disregard her comment, I was going to work the next day to a class of 17 students with mental retardation. Not all with DS - but all had a form of mental retardation. And, all had been a small part of a statistic.
I had no interest in getting an amnio. There is a 2% chance of spontaneous abortion. My doctor (new one - I switched after the nurse's comment) asked "would the results of the amnio change the course of your pregnancy?" For me, the answer was a quick no-brainer. Since it would not change the course of my pregnancy, it was not worth the risk. That would probably be the key question for you and your husband to discuss.
I did have the second level sonogram. The doctor that did it showed me all the measurements that would indicate DS. I told him I still refused the amnio, and the potential risks. In my mind it was my baby - and that was that.
I know how this information could throw your world into a whirl. Once you get in touch with your deepest feelings, I am sure you and your husband will find in peace in your decision regarding how you will proceed.
All the best,
S.
1 mom found this helpful
S.S. answers from Dallas on September 21, 2006
I have not been through this, so all I can say is hang in there. Remember that based on the odds you cited, you have a 97% chance of having a perfectly healthy, normal baby. That is really high.
1 mom found this helpful
K.G. answers from Boston on September 23, 2006
Hey A.,
First of all, like all of these other women I too have been down this road for both of my boys. I will have to say it is by far the scariest and most stressfull thing my husband and I had every expierenced. My Dr reported I had a 1 in 22 chance of having a child with DS. After waiting 2 weeks to have the level 2 sonogram everything appreared normal. The main areas they are looking at are the length of the femur(leg) bone, the heart, kidneys, size of the pinky finger, and the folds in the neck area, which were referred to as "hard markers" for DS. Fortunately with the level 2 sono none of the above were in the abnormal range, at that point we decided the amnio was not necessary. We would have went right on with the pregnancy anyway so having the amnio would not have made a difference for us. With my second child the tests came out normal-however, around 30 wks my perientologist found that the femur bone wasn't growing as fast as it should have been and suggested that the child could have DS, so for the last 8 wks of my pregnancy we worried about the baby. Well when my child was born one of the nurses pulled my husband aside to tell him that she believed the baby did have DS and that we needed to have the chromosome test done to support HER findings. Of course this is 12/15-just 10 days away from Christmas, what a scare. The pediatrician I had in the hospital was the absolute sweetest Dr ever and continued to convince me that my child was fine, and guess what he was! I tell you I still get chills thinking about all of that unnecessary stress and worrying we endured. I wish I would have known about this website when I had my tests done, because all i wanted to do was to communicate with others that were going through what we were going through. So with all of that said, oh and to find out those tests are only 60% accurate!!!!
good luck and God Bless,
K.
L. answers from Dallas on September 22, 2006
I know that is really difficult. When I had a level 2 sono. the doctor saw a cyst on my daughter's brain. In most cases, the cysts disolve, but it can indicate Down's. She was fine, but I had to wait 4 wks for results. I had 2 amnios. For me , the peace of mind was great. I was over 35 both times. Getting an amnio is a very personal decision. I have friends that would never get one, no matter their age, but for me it worked out fine! good luck to you!
M.F. answers from Dallas on September 21, 2006
I had an abnormal result when I was pregnant with my second too, and I was under 30 (only just, I was 29!). And I have a friend who just had a perfectly healthy baby after abnormal screen results for downs. The sonogram should tell you what you need to know.
I know it's hard not to worry. We just had a regular sonogram because I was farther along. Even though it showed that our son was normal, they tell you that you can't really know for sure until the baby is born. The higher level sonogram is likely more precise, so it should do well for putting your mind at ease.
We didn't do an amnio because I didn't think it was worth the risk since the only thing we stood to gain was knowledge (the results weren't going to prompt some kind of action, like fetal surgery, special diet, medication, etc.). I wondered if I would be gripped with worry for the rest of the pregnancy without knowing 100% for sure, but I reminded myself that even with amnio, the only way to know 100% for sure is to give birth!
L.C. answers from Seattle on September 22, 2006
I had an amnio to rule out down syndrome too. It did not hurt and it came back negative. The piece of mind you get for the rest of your pregnancy is well worth it in my opinion.
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