Anyone have positive First Trimester Screening results?

Question

So I'm 14 weeks today but had first trimester screening done for Down Syndrom and Trisomy 13 about 2 weeks ago. The midwife called me last week and told me my results came back with a high risk for Down Syndrom. Naturally I'm freaking out. I have no one in my family with Down Syndrom and neither does my boyfriend. I went for blood work a few days ago so I'm waiting for results. I  just want to know if this has happened to anyone else and what you did or if the testing was even accurate once you had your baby.                                UPDATE: after blood work for genetic screen it turns out that I received a false positive. Thank God 👐 Everything is alright... the genetic screening is supposed to be 97% accurate according to my doctor.

Answer

Down Syndrome isn’t necessarily genetic; meaning, you don’t have to have someone in your family with it. It can be due to maternal age, or just a fluke in chromosomes combining. Good luck!

Answer

I had an FTS scan and it came back positive with a 1 in 350 chance of my baby having downs syndrome. The test I took has an 85% accuracy on positive results and you can even get a false negative. I know there's more accurate tests out there but this is what's offered in Canada. I have an appointment with a genetic counsellor to do more testing.

Answer

I went in for a NT scan, and found out that my baby’s nuchal was measuring at 7 mm. (VERY high). Opted for the CVS as the risks didn’t outweigh the odds my doctor was giving us of the baby not making it to full term without medical intervention. Chromosomes came back fine for the first two tests. Today I got a call from the genetic counselor to tell me that the third and final test from the cvs (micro array) showing a partial duplication of the 16th chromosome. As of right now it’s just giving me more questions then answers. I go back Friday to discuss the specific duplication and what that means. I’m fortunate to have not had a Down syndrome result even if it wouldn’t have changed anything for me. But in my case, knowing but not knowing what this abnormality means is frustrating. All I wanted was to be prepared, both while pregnant and when my little one gets here...

Answer

First trimester tests are pretty accurate, but false positives are possible. Further testing will be more definitive . Sounds like that is already underway.
If the more definitive test gives a positive result , you have options. I’m sorry that you have to go through this. Good luck.

Anyone have positive First Trimester Screening results?

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