/ttcafterloss Alumni Daily Discussion Thread - March 05, 2015

Thanks for posting this link - really helpful.

I'm totally fascinated...

I found an article that gives a general rundown of NIPT as of 2014.

But buyer beware: the article is written by a lawyer with a background in bioethics, he advocates for genetic rights, has a child with Down Syndrome, and runs a website that is dedicated to gathering information about genetic issues and prenatal testing. After looking through the site, I found it to be even-handed. He's not on a soapbox of any sort, but he does appear to want expecting parents to be informed enough to make wise decisions (rather than be confused or misled by the medical/pharmaceutical industry).

Here's the link: http://www.downsyndromeprenataltesting.com/three-years-on-what-have-we-learned-about-non-invasive-prenatal-screening/

Another article on his site summarizes a study published in the New England Journal of Medicine in 2014. The study assessed the positive predictive value of NIPTs versus traditional screenings (the general prenatal screening including blood tests plus NT scan, aka the BUN test). The study found that the positive predictive value of NIPTs is far greater than traditional screening. But they also found that the positive predictive value of NIPTs was only 45.5% - meaning that even if you get a positive, it is more likely (like just over 50/50) that your test was a false positive than a true positive, and you should follow up with a diagnostic test for more certainty. The study tested the detection of trisomy 21, 18 and 13.

Here's the link for the article (and the link to the study in NEJoM is linked in the first paragraph): http://www.downsyndromeprenataltesting.com/3-points-about-the-new-down-syndrome-prenatal-testing-study/?utm_content=buffer0e2b5&utm_medium=social&utm_source=twitter.com&utm_campaign=buffer

...The More You Know!

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