Question about MaterniT21

Has anyone out there had a very recent MaterniT21 test? Looks like they now offer some other chromosome abnormalities including 22, 16, and select chromosomal regions including 22q, 15q, 5p and 1p.

I know they always report out 21, 18, 13, and sex chromosome abnormalities but does anyone know if these extras 22, 16, 22q, etc. are now part of standard testing or is this something your doctor has to order?? The website makes it sound like your doctor has to order it but when I talked to client services they made it sound like it was included. Was hoping to hear from someone who had it done recently.

I would ask how accurate it is. We've had 2 wrong genders reported on here. One was from Harmony though

I know it is about 90% accurate when you combine all the chromosomes, most of that due to false positive. Much more accurate than the NT scan or quad screen.

Really my question was if anyone knows if these extras 22, 16, 22q, etc. are now part of standard testing or is this something your doctor has to order?

Panorama's more accurate for gender and other abnormalities. It's also cheaper and available earlier. The things you listed are now standard for most maternal genetic blood tests, including Panorama and MaterniT21+.

It is just a little weird... on the MaterniT21 website it makes it sound like the additional trisomy tests and the micro-deletions are "extra". Sounds like they are part of routine testing now.

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Originally Posted by nuthinbutpink

I would ask how accurate it is. We've had 2 wrong genders reported on here. One was from Harmony though

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Did we ever verify as to whether those were really wrong?? I have another lady who has what looks to me to be very clear girl nub at 14 weeks and has a boy Harmony result.

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Originally Posted by WantingPink

It is just a little weird... on the MaterniT21 website it makes it sound like the additional trisomy tests and the micro-deletions are "extra". Sounds like they are part of routine testing now.

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I honestly don't know the answer to that and I would call/email the company and ask them. Companies do not always keep their websites current unfortunately.

I had the Maternit21 test with this pregnancy, and also with one prior. Both were accurate--as far as I know--though I chose not to find out gender from either.

I discussed this testing at length with a genetic consellor who is very familiar with it, just in terms of the pros and cons. My hospital (and my GC) were part of the original study, done by Sequenom, upon which they base their accuracy claims. This study included approximately 2,000 pregnancies, 238 of which were babies with Downs syndrome. All but 2 cases of Downs were detected, and there were (I believe--if I'm remembering right, not looking up the numbers right now) 2 or 3 false positives for Downs. There were 13 gender mistakes in the sample group.

*All* accuracy claims made by Sequenom are based on this single clinical trial. Currently the company processes about 2,000 samples of blood per week, but they do not keep track of outcomes or accuracy. So when they say that the test is 99.4% accurate for gender, it is based on that single study, where 13 errors in a sample of 2000 (1987 correct) yields a 99.4 % accuracy rate. It is not based on current clinical use. Sequenom may keep records of reports of false negatives, false positives, gender errors, etc. within the company, but they do not release this information to the public.

Now that they are processing about as many samples PER WEEK as were in the entire clinical trial, has the test's accuracy gone up or down? We don't know, and there's no way of telling.

My GC has seen numerous gender mistakes, several fase positives, and a handful of false negatives. One woman she worked with recently had a baby whose NT was well within the normal range, normal bloodwork on the sequential screen (no increased risk of Downs detected) a negative Maternit21 (with z-scores and fetal fraction indicating a robust sample) and a baby who was diagnosed with Downs at birth. This is very rare, but can and does happen. My GC's sense--based on extensive experience but no hard data--is that the false negative rate for Downs has decreased since the trial, but the error rate for gender has gone up. But no one can know for sure (except probably a handful of Sequenom employees, and they're not telling).

There's no question that this test is highly accurate--much more so than the traditional seqential screening, but there's also no question that it is less accurate than amnio--and always will be, since the fetal chromosomal material it tests for comes from the placenta, not the baby, and in rare cases the baby and placenta can be genetically different. Gender results are reliable, but not completely accurate, and no one really knows *exactly* how accurate.

I would find out gender from a CVS or amnio (and I have)--it's not that I didn't want to know gender early on. I just didn't want to feel happy or disappointed, and also to be wondering about the accuracy of the results. I wanted to wait until I could feel completely confident (this time around I asked the peri to check the ultrasonographer's finding at my anatomy scan w/ the Maternit21 result, and I feel confident, since they matched). For me, this sense of uncertainty about the accuracy of the gender result was enough to lead me to wait with finding out.

I did call them and they do offer the other micro-deletions as well as trisomy 16 and 22 and it is included in the standard testing (and standard testing fee).

They also said that you need to check with your Dr. as some doctors are opting out of the expanded testing. The only thing they don't offer that Panorama does is triploidy detection. They also test for extra X and Y abnormalities and Turners.

oh, and the micro-deletions, etc. were not reported for my test. I think your doctor has to check an extra box to get them to perform that part of the test. My GC felt their accuracy was largely unknown.

And I was just billed $4,200 for my two Maternit21 tests. Just as in this morning--trying to figure out what to do with the bill. Kind of glad I wasn't charged extra for the "plus" portion.