Studies emerge on accuracy of prenatal tests

blackpearl08 · December 2014

https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html

Wow, studies are emerging that question the accuracy of the Harmony and Maternity21 tests. The article focuses on families that may be terminating pregnancies based on false positives. This breaks my heart.

Lalalady54 · December 2014

So here is where the issue lies, this woman was offered additional testing and chose immediately to abort her pregnancy. (Or at least that's what the first few paragraphs said and It is what I assumed it would say)The materni21 shouldn't substitute an amniocentesis in the case of diagnosing a specific and potentially fatal birth defect. I think just as this article stated we need to be doing more than just the materni21 and harmony tests when making decisions regarding life or death of unborn children because there is always risk of error, I think double checking is never a bad thing.

Unknown · December 2014

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[Deleted User] · December 2014

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animaldoctor12 · December 2014

Very interesting. Scientific advances are wonderful, but people really do need to be educated on the downsides to a specific test. I wasn't offered this test so i don't know what my doctor's would have told me, but i am glad to hear that the word will be getting out that these tests aren't infallible. Thank you for sharing.

robotgal · December 2014

The problem here is that the average person doesn't know the difference between "specificity" and "accuracy", and the companies aren't doing anything to make the distinction clear. People see 99% specificity, get a positive result, and think that means their baby has a 99% chance of having the disorder.

I don't understand why the companies and/or the folks' doctors aren't educating them about Positive Predictive Value and what a positive result actually means for them.

These articles do a decent job of explaining:

https://www.downsyndromeprenataltesting.com/three-years-on-what-have-we-learned-about-non-invasive-prenatal-screening/

https://www.nbcnews.com/health/womens-health/prenatal-tests-have-high-failure-rate-triggering-abortions-n267301

Pintobean39 · December 2014

I'll admit I didn't read it all but seriously even the pamphlets don't say the test are 100% accurate. I read the beginning about the Edwards Syndrome which is trisomy 18 and from what I remember it was even less accurate than trisomy 21.

That's just crazy talk to terminate a pregnancy unless you have a test that's 100% accurate.

marijaa333 · December 2014

Indeed, important to remember the NIPTs are not diagnostic.

emu0013 · December 2014

My MFM specifically told me that if my Harmony test came back high risk the next step was cvs or amnio.We also met with a Genetic counselor who went over the percentages and exactly what they ment, and also the next steps if the test were to come back high risk.

lgsdesigner · December 2014

That must be why my midwife had me do additional bloodwork this morning even though my NT Scan came back fine. They probably just want to be sure.

Also--- this story is very unsettling. You would think a doctor would require an amino follow-up before announcing to the world the baby has an issue.

My_Matt · December 2014

I read that article! How sad that a test with such important ramifications is so poorly regulated. Really disappointing.

itsmevkb · December 2014

lgsdesigner said:

That must be why my midwife had me do additional bloodwork this morning even though my NT Scan came back fine. They probably just want to be sure.

Also--- this story is very unsettling. You would think a doctor would require an amino follow-up before announcing to the world the baby has an issue.

Except that a doctor can't require any patient to undergo a procedure.

PlayboyMommy · December 2014

I read this on HuffPo yesterday. What's most alarming is the seeming lack of proper counseling these women received. I had to watch a DVD before even meeting with the genetic counselor that described the test and how it's just a screening and not diagnostic, etc. and then the GC told me about testing after a positive screen to confirm any potential issues. They made it abundantly clear that this was not a diagnostic tool, and it's sad that these women didn't get the same information.

JC714 · December 2014

It was made very clear too me that Nipts are not diagnostic and if my MaterniT21 came bad positive they were going to strongly recommend amnio....In my case non-invasive tests were the only ones my husband and I would do...termination was not something we would consider...but I would hope that anyone who would consider terminating would have an amnio first.

Pintobean39 · December 2014

They actually had something about this on the Today show this morning. They were basically saying all the test performed early in pregnancy only had a 50% chance of it even being accurate. The Dr was saying she decided against them and didn't think they were necessary. In the beginning she was talking strictly about the blood test and then mentioned later the scan. I think she was lumping all the test into one and the scans do have a higher rate of false positives over the test such as the materni21. I don't think these should all be lumped together.

Kinda sad in my opinion that the test are getting such bad publicity. These test aren't perfect but it's a start and I hope they are more accurate in the future. People need to just be educated about what these test are or are not capable of telling you.

MrsPDX · December 2014

kendra1992 said:
My sisters doctor told her my nephew WOULD have Down syndrome and asked if she would like to terminate the pregnancy asked if she was sure am over and over. Until my mom called and told the doctor not to talk to my sister like that ( she was 17) thank goodness she didn't baby was just fine:) that's what made me nervous about my quad test to be honest I don't even want to hear the results just something to stress over.

This is why I didn't get any genetic tests done.

Unknown · December 2014

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Pintobean39 · December 2014

MrsPDX said:

kendra1992 said:
My sisters doctor told her my nephew WOULD have Down syndrome and asked if she would like to terminate the pregnancy asked if she was sure am over and over. Until my mom called and told the doctor not to talk to my sister like that ( she was 17) thank goodness she didn't baby was just fine:) that's what made me nervous about my quad test to be honest I don't even want to hear the results just something to stress over.
This is why I didn't get any genetic tests done.

But was the test the NT scan? I'm guessing that's what is was since she was 17. Those are notorious for false positives. Education is the answer not avoidance.

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