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Has anyone had one of these new genetic blood tests? Materni T 21 is one of them. H wants me to do that over an NT Scan because he wants a yes/no answer and not a 1/### result that would most likely lead to more invasive tests being preformed.
Re: Genetic Testing
I didn't have this test as it came out after I gave birth.
However, from what I know it's still being investigated and hasn't been approved by the FDA yet.
Also, it's not a diagnostic test. It might be a step in between something like a sequential screen or quad test. The only diagnostic tests as far as I know are still CVS and amnio. You won't get a definitive yes/no from Maternit21. What that means is if you get this test and results show markers for a genetic problem you would still have the option for a diagnostic test for confirmation.
Moreover, it looks like the manufacturers of this test state that women should be tested if they meet the following requrements: 1. AMA (so 35+) 2. personal or family hx of chromosomal problems, 3. An ultrasound that suggests abnormal # of chromosomes and 4. positive blood screening tests.
So it looks like they want you to have the NT scan or other screening before you use their test.
Based on that it looks like you would get the nt test, then if you have a high likelihood of abnormalities you might have the option of Maternit21, then if that comes back suggestive you could go to an amnio/CVS (the CVS has to be done pretty early though).
Since it's not been FDA approved your insurance might not cover it so you'll want to check on it.
Finally, disclaimer: I'd ask your doc more about this as I'm def not in a position to give you all the info you need.
Here's the site for the mfr.
http://www.sequenomcmm.com/Home/Health-Care-Professionals/Trisomy-21/About-the-Test
You know, I get what you're saying. I guess my concerns come from the fact that it's not FDA approved. The studies that were done were self conducted and self reported and weren't subject to evaluation. They were peer reviewed so that's good but their sample sizes were small in the #'s of actual trisomies that they found and they were found in women that were already deemed high risk.
Obviously I don't know your background and history, none of my biz, but even the makers of the test only recommend it for those women who meet the criteria above. So if you're not one of those women then this test might not be indicated for you as it's accuracy hasn't been supported.
The makers of the test recommend you have other tests as well. This is not meant to be a first line test - it's meant to follow up on a risk that has already been identified by either history, an ultrasound, or the alpha fetal protein screening.
To me this technology is awesome but I'd be a little concerned about using it as my only method of screening if I were choosing to screen. The other tests have limitations but they've been validated by an external source that makes me personally comfortable. It's a very personal decision and I'm only giving my personal opinion based on my education and limited clinical experience.
Finally, just to confirm a test that yields a positive/negative isn't necessarily diagnostic. The percentages/ratios that come from other tests can be reassuring and to me are more reassuring from a screening perspective then a yes/no. What if the no was wrong? You wouldn't know until birth or if you were lucky to have issues picked up on an anatomy scan.
I hope this sheds a little light on what I meant first time around. Best of luck in what you decide and I hope everything comes back great regardless of what you choose!