45 answers

Tested Positive for down Syndrome

I had my lab work last week for the Quad test, and the Nurse from my Dr's office called me today to tell me I tested positive for down syndrome. After losing it and talking to the nurse three times within an hour and making the appointment to see the specialist, I learned that the calculation gave me a percent chance of 1 out of 270. Has anyone ever heard of this before, or experienced a positive result?? The nurse assured me that the calculation for positive was double checked and was accurate. Im wondering what my odds really are at this point. I dont have a family history of Down Syndrome, nor does my husband. But like the nurse said, genes can start anywhere. If anyone knows of this test and/or people who have gone through this before, please respond!! I go to the specialist on Thursday. They said they would do more testing, an ultrasound and an amniocentisis. PLEASE RESPOND WITH ANY INFORMATION YOU MAY HAVE. Thanks.

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So What Happened?™

Thanks so much for all of your responses. I went to the Specialist yesterday, and had the ultrasound and amnio. I opted for the amnio because the Dr explained that the lab test in fact was 1 out of 59, still not a real bad number, but there were some other levels he spoke of that normal is 0-3 and I was a 6.8. He just said it was a red flag, not that it was DS. The ultrasound showed short measurements in the arm and leg bones. My husband and I wanted to go ahead with the amnio (not that it's going to change whether or not we want our little boy at all!). We would rather know though. So, the amnio went great, I watched our little baby in the sono the whole time, watching the needle take out a little fluid. I've been resting since, with no complications. We are waiting to hear the results today or Monday. Thanks for all of your support, I love Mamasource, you all are wonderful!

Featured Answers

The same thing happened to me when I was pregnant with my son. I had the amnio and everything ended up being just fine. He is a happy and healthy 4 year old now.

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Just because you tested postive does not mean your baby will definitly have Down Syndrome. Really, I think it is a worthless test that just causes unneccessary stress. My sister-in-law had the same results and both of her kids are fine. I've heard several similar stories from other moms, and my midwives always advised against taking it. Really, what does it change? If your baby is born with Down Syndrome, will you love him any less? And if he isn't, you'll have spent all this time worrying over nothing. My advice is to just put it out of your head; easier said than done, I know. And remember that nothing will happen that you can't handle. Good luck!

K., I understand that instant fear. I've been there, done that, and wouldn't wish it on anyone. I have 6 friends I can think of who had positive initial tests as well. 5 were over the age of 35. One had a family history, including a sister with Down Syndrome. In the end, NONE of them had a child with Down Syndrome, and the ultrasounds and/or amnio confirmed that immediately so they didn't have to spend an entire pregnancy worried about it.
Downs happens, and if it happens for your family I can only wish you the best and believe that you are the kind of loving mom who will do everything in your power to be the best mom to both of your kids. But I also know it is VERY, VERY rare to have the initial positive test be an actual indication of Downs. I know no amount of comforting before hand will make you feel sane until you actually know for sure, but if you can compartmentalize the worry by telling yourself over and over the actual statistics, try that. It is very unlikely. And tell yourself that you are not going to ruin your wonderful pregnancy with that kind of worry. You only have 9 months to hold that beautiful baby inside... try not to be consumed with fear. I wish you the best of luck.

With my first pregnancy I also had the test and came back 1/84.... I cryed for many many days and could not get the thought out of my head- I felt I was hurting my baby due to all the stress and decided to go ahead w/ the amnio (which has a risk of miscarriage)----- My daughter was fine 100% and I could not believe that I had gotten myself so self involved that I actually had decided to do the amnio even though it had such a terrible risk to my little girl. I now have 3 healthy kids and w/ the 2nd and 3rd pregnancy I refused the testing, since I knew I was going to keep my babies no matter if there was anything wrong w/ them or not.

I wish you the best just know MANY of us have been in your shoes and know how you feel. Like the other moms said, try to relax for your baby and you are sure to make the best decision YOU need to make for the both of you.

I had a friend who was told with her 3rd child that she probably would have Down Syndrome. She refused an amnio to find out for sure.
Her perfectly healthy little girl is now 4 years old!

Also, I have known many wonderful people with Downs Syndrome. Their families are blessed to have them, and they make the world a better place.

Huggs momma... i have heard those tests are very inacurate. that is why i always decline them. i am sorry you have to go threw this,,

I think the older we get the more the percentile drops. I had this triple screening test as well and mine was 1 out of 270. There is no downs syndrome or any other type of defect in my family, but for days I cried about this and didn't know what to do... I was suggested to have amnio, genetic counseling and ultrasound. I did a lot of research on the internet and saw that this was a common thing (to get a positive and it not be accurate). I would start out with the in depth ultrasound b/c there are special areas they check on the baby to see if there are defects... I am 35 weeks today and never went through with the amnio, but all my tests after that one have come back wonderful and the baby is developing great and all the points they check are perfect... so don't worry yourself so much... this is probably just a false positive.

K.: My Quad test was positive also and came back with an extremely high chance for Downs in my baby also. I have a strong faith and I also did not have any history of this in my family nor does my husband. I "felt" very strongly that my child was fine. I did go for the extra ultra sounds, I mean who doesn't take every opportunity to see their miracle every chance they get. They can tell a lot by the ultra sounds alone. I DID NOT agree to the amnio however. Please do your homework on this before you let them do it. It is YOUR CHOICE to have that done or not. There are quite a few risks such as: miscarriage, drainage/leakage of amniotic fluid (later to cause HUGE problems for your baby) etc. They are actually sticking a needle in your sack where your baby is to withdraw fluid, this can cause tears and also there is a small risk of sticking your baby! The risks are too high and I refused that test. Do some research on this please. I also discovered that this particular test (the QUAD) has an EXTREMELY high error rate and in fact there is a push for it to no longer be used at all. Go with your gut instincts & heart is all I can say and please do a little research on your own. My daughter is now 11 months old, she is beautiful and very intelligent. I hope my experience helps you.

I had this happen with both of my pregnancies. There is a lot of information on the internet about the Quad test. It does not have a true positive or negative result. It simply shows that your risk is slightly higher than other women at your age and gestation. This test is linked to the day of your gestation. If your doctor is off on your dates by even a slight amount, it can result in a "false positive." With both mine, I went to the fetal specialist and opted for the Amnio. I just needed to know so I could prepare. The Amnio actually takes a small amount of the baby's DNA that is floating in the amniotic fluid so it is extremely accurate (I think over 99%). Please don't let this result upset you. Even if your increased risk is accurate, you still have 269/270 chance that nothing is wrong!

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