Informaseq — The Bump
High-Risk Pregnancy


Hi all,
I recently got a quad screen that showed a high risk for downs and took the informaseq/harmony blood test which also came back positive for Down syndrome. My doctor moved me to the high risk section of the OB and told me they would be better suited to answer my questions. He said this test was a test of the baby's DNA and that it was 99% accurate. I'm curious if this means our baby for sure has downs or if I'll still have to do an amnio? Also if anyone knows why/how Down's syndrome can effect my pregnancy, making it high risk? I have an appointment next week with a high risk doctor, but just wanted to check in here to see if I could get any information as well. Thank you!

Re: Informaseq

  • My quad screen came back high risk for Downs so I was sent to a high risk OB for a Level 2 ultrasound (everything came back fine but at 16 weeks it was too early to see everything) and I had the Maternit21 test. The genetic counselor said that both the quad and the Maternit21 tests gave odds, with the Maternit21 being much more accurate, and that if the Maternit21 also came back as high risk it didn't necessarily mean Downs, the only way to find out for sure would be an amino. My Maternit21 test came back normal, so we didn't pursue the amino, but I will have another Level 2 in a couple of weeks. Good luck!


    BabyFruit Ticker
  • So sorry you are going through this. The MaterniT21 test is considered 99% accurate, but, since it's still relatively new, positive results are supposed to be confirmed by Amniocentesis or CVS. Your high risk doctors should send you for genetic counselling and offer either test to you. It will be your choice to proceed with the testing or not. Both are considered invasive and have risks (relatively low risks). If I had gotten a positive result on my MaterniT21, I would definitely have had the result confirmed with the invasive testing. Ultimately, the choice will be yours. Wishing you a healthy remainder of your pregnancy and a happy healthy baby!

  • MaterniT21 test (and any blood test performed like it) is a screening, not a diagnostic.  The only way to know for sure would be to follow up with a diagnostic test like an amniocentesis.  Screening tests just give you odds for a certain issue, not necessarily a diagnosis of a specific problem.  If they did find your baby to have Downs, you would be high risk because there is more factors to take into consideration (I believe there could be heart issues, among others).  Take it one step at a time!  Try not to worry (although I know how that goes :) )  Good luck :)
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