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  5. Anyone had a false positive Verify genetic test?

Anyone had a false positive Verify genetic test? Lock Rss

Has anyone experienced a false positive with the new Verify genetic test? This happened to me recently and I'm interested in hearing from any others ...

The Verify test is a blood test at 10 weeks that tests for trisomy 13, 18 and 21 (Downs). It isn't covered by Medicare and costs $1000 - they send your blood to the US where it is tested and the result comes back the nest week - either positive, negative, or 'no call' where the results can't be confirmed. Mine came back when I was 11 weeks as a clear positive result for trisomy 13. This was the first positive test my obs had seen (I don't think many Aussie women get the test due to the cost). The options were to 'interrupt the pregnancy', get an ultrasound at the hospital to look for other indicators of trisomy such as problems with brain/heart/other development, or get an amnio at 14 weeks for a definitive confirmation. We decided to do a scan at the hospital 2 days later to see if they could detect other indicators. If trisomy 13 was confirmed in that test my husband and I agreed that we would not proceed with the pregnancy.

The obs and sonographer spent 45 minutes when I was 11w6d on the ultrasound at the hospital - scrutinising the brain, heart, fingers etc and could see no signs of trisomy 13. Our obs advised that we should wait for 14 weeks to get the amnio. They will only do the amnio at 14 weeks as there is a much lower chance of a miscarriage caused by the test, but the downside is that at 14 weeks it's too late for a D&C. Instead, they induce you - use drugs to dilate your cervix and 'stimulate' your uterus to have contractions and deliver the fetus. Having previously endured a miscarriage at 10 weeks in a hotel room before having a healthy baby in 2012, I was dreading going through the pain of a miscarriage again, which hurt just as much as the contractions I'd experienced giving birth at full term, up to the point of being fully dilated.

So I spent the next few weeks trying to forget I was pregnant and prepare myself for the imminent miscarriage. There was a 1 in 50 chance that the bad cells were confined to my placenta and not in the fetus, but this was a long shot and I wasn't getting my hopes up.

In the meantime my obs went to the US for a conference and was taking images from my scan to discuss with his colleagues there to discuss their experiences with genetic tests and the management of those pregnancies.

At 14 weeks I had the amnio and received a call from the obs the next day that the results were negative! We met with him later that day and he said that the specialists in the States had a lot more experience with these tests as the tests were more widely available, and that they all said it was common to receive false positives, and that they're seeing these results in younger women in their 20s which is very unusual (I'm 39 so this sort of result was more likely for me). They're unhappy that the private labs doing the tests are not releasing data on the results they are seeing since running clinical trials years ago - if these tests were run through hospitals the clinicians would have visibility over the test results and reliability. There is apparently a growing call from the medical community to stop calling these tests diagnostic. Who would've known?

We think I have Confined Placental Mosaicism which means I do have the bad cells but they're only in my placenta. Previously, you'd only find this out if you did a CVS test on the placenta - if I had just gone through the normal nuchal translucency tests I never would have had a CVS as there would have been no problem detected. But with these genetic blood tests, they detect them every time. So we can't really be sure until I deliver and they test the placenta (there's no point in me having a CVS now).

Anyway, had my 20 week scan yesterday and everything is looking good - no signs of developmental problems or indicators of trisomy.

Has anyone else had a rocky start with a genetic tests that was later negated by an amnio?
Thanks for the hug smile Yes, we did discuss getting a CVS at 12 weeks but there wasn't much point. If it came back positive then we still wouldn't know if it was confined placental mosaicism so would have to get the amnio anyway, and if it was negative we'd still have to get the amnio to see if the fetus was affected. So it wouldn't have really provided any information relevant to making a decision. Interesting that they gave you this advice - I got information on false negatives (about 1% from memory) but not false positives.
Hi Bettina,

I had a false positve for Trisomy 13 on the 23rd of December.. I also had to 2 weeks for an amnio which was negative.. It was the worst 2 weeks of my life after receiving a report being greater than 99% chance our baby had Trisomy 13 I lost all hope but hung in there.. I am now 29 weeks pregnant and all is well although I'm still nervous and wonder why my blood tested positive. I am 41 and this is our first baby. I had my 28 week scan yesterday and he is perfect smile As this test is very new in Australia doctors aren't aware of the false positve rate.. A genetics counsellor from my hospital said she has seen 10 false positives..

I hope you can relax now and enjoy pregnancy
Hi Tracy - it's reassuring to hear that someone 9 weeks ahead of me is still going strong so thanks for your response. I'd love to hear how the rest of your pregnancy goes - perhaps when you surface a few weeks after having bub you can update us on how everything went xx
I ended up doing the amnio as we weren't willing to pay for the test. It was 2 weeks of horrible what ifs for me too. Best of luck for the rest of the pregnancy. I know I have found it quite difficult trying to bond with our bubs because of all the uncertainty.
I had the Verifi Blood test done and about a week and a half later I received a phone call from my OB stating that the results came back positive for Turner's Syndrome. Turner's Syndrome is when the chromosome that determine the gender of the child is missing the other "X". For a girl, she will have "XX" and for a Turner's girl she has one "X". There is a 95% miscarry rate for Turner's babies... so we were terrified. She informed me that the test results had a 98% chance of being correct and I was sent to a specialist.

The specialist did a sonogram and asked me if I wanted an Amnio done. The sonogram did not pick up any birth defects that they could see (this was at 17 weeks). I did have the amnio done and another week and a half later my results came back that my daughter did NOT have Tuner's Syndrome. My Verifi test was a false positive; however, my daughter did have an inversion of the 9th chromosome (the chromosome flips places at the 9th place in the chain).

I am currently 22 weeks now, and have seen another specialist to explain the inversion. So far, she looks healthy and the specialist believes if myself or my husband doesn't have problems (he told me that the inversion is hereditary) there might not be anything wrong with our daughter. We will cross our fingers and wait for the next sonogram in two weeks.

But yes, there are false positives with the Verifi test. I almost wish I didn't have the test done.
What an awful experience. If I fell pregnant again (which I don't plan to) I wouldn't get the test. I'd just wait for the nuchal translucency test at 12 weeks rather than Verify at 10 weeks (and the $900 it cost). As it turns out, I put the fetus at a 1 in 200 risk of miscarriage by having the amnio, which I wouldn't have had if I didn't get the Verify test. I'm glad there are a few responses to this post so that others considering getting the test can have a clearer understanding of its limitations.

But the good news is ... I had a perfectly healthy little girl 4 weeks ago! Despite the negative amnio result I was still a bit anxious and it was a huge relief to see that she is absolutely fine. Just thinking that termination was an option makes me shudder - I'm so glad we had a conservative obs who arranged an ultrasound at the hospital and spent over an hour with the sonographer examining her from every angle.

All the best S0megir1 xx
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