2nd Trimester

Quad Screen showed increased risk for Down's Syndrome

I am 16 weeks along in my first pregnancy, and this past week I was given the Quad Screen blood test during my doctor's visit. They warned me that the test has a high false positive rate, but I still never really thought it would come back less than normal. However, the nurse called me last Friday and said everything came back fine, except that it showed I had an increased risk for Down Syndrome. This kind of shocked me, as I am only 27 and have no family history of Doens. The nurse mentioned something on the phone about "if your folic acid is low at the time of conception, it can cause it." Well this baby was not planned, therefore I was not taking folic acid until after I found out, and this could be a real possibility. I went back to the doctor that afternoon to have more blood drawn for a MaterniT21 test that was sent off to a lab for genetic testing. They told me it will take a week to get the results. I also asked the technician if they ever get them back and they are negative. She said they do all the time, and in fact that office has never gotten back a positive. This made me feel better. My husband and I will of course love our baby no matter what, but it is stressful thinking of the possibilities. I kind of wish I had opted out of the test in the first place. Has anyone else had a similar experience? And did it end up bring a false positive? 

Re: Quad Screen showed increased risk for Down's Syndrome

  • I took the penta and it came back with an increased chance for downs. I was told about the false negatives and my dr said they can give you a blood test that will give a 99% accuracy. I was very confused and distraught on the phone being that it was new years even so i couldn't even make an appt for 2 days. I was very very upset b/c birth defects are common in my family and i could very well be carrying a baby with downs (only for the struggle, i lived life with my brothers intellectual disabilities and life is not the same for everyone else). I wanted to be aware and prepared but still was wishing i skipped the test. i had to go into genetic counseling at the high risk dept and have an ultrasound. Based on what they saw on the ultrasound they said everything looked good but only 70% of the time can they find signs of downs on an ultrasound. Then meeting with the genetic counselor she explained all the numbers and i found myself more comfortable. I think going into it not understanding everything is scary, but she explained it all and i was very comfortable not getting the blood test. My husband seemed a bit uneasy b/c he said "it's just a blood test". But for me it was the worrying and waiting for results that made me a mess. They say i can go back anytime and take it. I also asked my ob and she said whatever makes you most comfortable.

    also a lot of friends who have had these tests said theirs were false positives as well
  • Although mine came back negative, I was also told about the false positive rate. My doctor told me in just 2013 they only had 3 positives and all their babies came out fine.

    It's a BOY










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  • I was told the same thing and everything turned out fine.  I really hope things turn out the best for you. I know how stressful the wait can be. 
  • We just got our risk score from our NT scan and bloodwork and apparently my HCG was too high which brought our score from 1:365 to 1:130. We go to have more bloodwork done tomorrow (MaterniT21) where we'll get a better risk assessment. My husband keeps reminding me that there is a 99.2% chance that the babies won't have DS and I honestly just keep repeating that to myself. Hang in there!

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  • I had the same and I let it freak me out! My blood work came back with an increased risk so I was then able to do the Harmony test (like the Maternit21 you took) - insurance wouldn't cover the Harmony unless I was at an increased risk. After 10 days of stressing and worrying, I went back for the results and the anatomy scan and things were fine. The more I read about the testing, the more I realized that false positives, or increased risk alerts were pretty common. I think getting to the point where I realized I'd love my baby no matter what helped put my mind at ease too. Stressful but stay positive!
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  • Stay positive! That test does have false positives and the odds can scare you!
    I had the maternit21 test - know that it can take up to two weeks to come back so do not worry if a week goes by and you do not hear! Waiting is the worst. Stay positive- thinking of you!
  • That test is horrible.  My son had a one in ten and came out fine.  But freaked me out for the rest of the pregnancy.  Choose not to have it done with this one.
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  • Maternit21 is so accurate, once you get those results there will be no questions. Fingers crossed!
  • Hey guys, thank you all for your input and encouragement! Finally, after 11 days of anxious waiting, I received my results. The nurse said that it came back "negative" and that everything looked normal. I also found out that it's a boy! So I'm pretty much on cloud nine right now. 
    While I see that these tests could be valuable to some, I have come to the conclusion that if I am ever blessed with future pregnancies, I will turn down the quad screen. To me, it's just not worth the stress and worry. However, I might feel differently had the results come back and shown that my baby was likely to have a disorder. I would want to be prepared. So I guess it really is a personal decision. Thanks again, everyone! 
  • That's great news. The waiting and worry is so stressful! Now enjoy every minute of your pregnancy!
  • Glad to hear the out come was a good one for you. 
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