NBC Nightly News piece on prenatal testing

[turtletyme]

I know this is an angle that pops up every so often in the news, but happened to catch it on the news last night, so I thought I'd share.

www.nbcnews.com/nightly-news/how-reliable-are-pre-natal-genetic-test-doubts-saved-one-n362876

Technology and science are so amazing, and I think these tests allow us to have really informed and educated pregnancies in most cases, but stories like this serve as a reminder that nothing is 100% accurate.

Edited because subject/verb agreement

[alayne926]

While these tests are a lot more accurate that the NT scan and first tri blood work was at estimating risk of a disease, just like the video said, these tests are not a diagnosis, so you should seek other avenues for a diagnosis such as a CVC or amnio.  It sounds like the couple decided just from the one test to terminate and the Dr. was the one that suggested they wait and do the amnio.  

[bendherova]

The bottom line is that Materniti21 and similar tests are still screening exams and if they indicate an issue, no action to terminate should be taken without a diagnostic test like CVS and amnio.



eta: appears ditto alayne926.

[trixi282]

Completely agree with the other comments... these tests are and should be presented as 'screening' tests. Doctors should really take the time to educate their patients, and I'm glad the doctor in this situation did persuade the couple from terminating after just a screening test showed a possibility of the disorder/disease. Does make you wonder how many doctors don't though and how many perfectly healthy babies like this one have potentially been terminated simply because they had a chance they might be sick.

[dogmama22]

This is exactly why I turned down this test at 21 weeks. At my A/S, I had one small indicator of Trisomy 18 and the OB at the hospital strongly encouraged us to do the genetic testing and seemed shocked when I turned it down. She said with the indicator, baby had a 3% chance of being born with T18. That's the same margin of error with the test, so why would I do that? She also couldn't give me a good reason why the rest would be beneficial in any way. I'm so glad my usual OB is much more laid back - she wasn't concerned at all when they found no other markers.

[Deleted]

May 22, 2015 13:25:00 GMT -5 dogmama22 said:

This is exactly why I turned down this test at 21 weeks. At my A/S, I had one small indicator of Trisomy 18 and the OB at the hospital strongly encouraged us to do the genetic testing and seemed shocked when I turned it down. She said with the indicator, baby had a 3% chance of being born with T18. That's the same margin of error with the test, so why would I do that? She also couldn't give me a good reason why the rest would be beneficial in any way. I'm so glad my usual OB is much more laid back - she wasn't concerned at all when they found no other markers.

The margin of error in the genetic test I received was not 3% it was 99.9%.

Also echoing other posters that the doctor should be clear the genetic test is a great first exploratory alternative to more invasive final testing like an Amnio. It's really unfortunate anyone would consider the genetic testing to be the final stage of testing.

[dogmama22]

May 22, 2015 15:44:23 GMT -5 @poppyc8 said:

May 22, 2015 13:25:00 GMT -5 dogmama22 said:

This is exactly why I turned down this test at 21 weeks. At my A/S, I had one small indicator of Trisomy 18 and the OB at the hospital strongly encouraged us to do the genetic testing and seemed shocked when I turned it down. She said with the indicator, baby had a 3% chance of being born with T18. That's the same margin of error with the test, so why would I do that? She also couldn't give me a good reason why the rest would be beneficial in any way. I'm so glad my usual OB is much more laid back - she wasn't concerned at all when they found no other markers.

The margin of error in the genetic test I received was not 3% it was 99.9%.

Also echoing other posters that the doctor should be clear the genetic test is a great first exploratory alternative to more invasive final testing like an Amnio. It's really unfortunate anyone would consider the genetic testing to be the final stage of testing.

I was offered the same one as they were discussing in the article, which my understanding was that it's about 97% accurate.  You're totally right on how it shouldn't be the final stage of testing.  I hope my post didn't come off as judgmental for anyone who chose to have it done, I was just frustrated that I felt pressured into doing it.

[Deleted]

May 22, 2015 15:51:13 GMT -5 dogmama22 said:

May 22, 2015 15:44:23 GMT -5 @poppyc8 said:

The margin of error in the genetic test I received was not 3% it was 99.9%.

Also echoing other posters that the doctor should be clear the genetic test is a great first exploratory alternative to more invasive final testing like an Amnio. It's really unfortunate anyone would consider the genetic testing to be the final stage of testing.

I was offered the same one as they were discussing in the article, which my understanding was that it's about 97% accurate.  You're totally right on how it shouldn't be the final stage of testing.  I hope my post didn't come off as judgmental for anyone who chose to have it done, I was just frustrated that I felt pressured into doing it.

Not judgemental at all. From the info my doctor gave me the accuracy for tri18 is higher at 99.9. But for other trisomies the accuracy was lower at between 91% to 97%

I think I'm just looking at it also from an over 35 years of age mom background where a few years ago so many of my AMA friends only had the option for the NT and then an Amnio so I look at genetic testing as such a positive step forward in that so many AMA women now don't have to do Amnios anymore due to the high false positive rates of the NT.