Need help with screening questions -pls!

Ksteel21 · April 2014

I have my first appointment with a midwife in my 10th week. After some drama, it seems I will have insurance that will cover my prenatal care but it will not start until my 14th week. The midwife has agreed to a very reasonable out-of-pocket cost, but I don't know what to do about the testing - blood screening, ultrasound, maybe a Maternti21 test - I am well over 40 so these are necessary, but can I wait as long as the 14th week for them? I am 100% sure about how preggers I am - I have the exact date of my last period and I am regular as a clock. I want to have all the tests possible, but I can't afford to go broke paying for them just because of timing.

sas2551 · April 2014

Maybe you could just do the maternit21? If your insurance won't pay (or you don't have any) they give you the number for the lab, and they reduce your charge to $200 (you should check this is the case where you live though). Bottom line, my OB gave me the choice of EITHER the first trimester screen (which includes the NT ultrasound and blood work) OR the maternit21, and said his preference is for the maternt21 since it's more accurate and finding chromosomal abnormalities than the first trimester screen, so I went with that. Although, I did have a dating ultrasound earlier which checked the heartbeat.

the maternit21 can be taken after 10weeks, and results take a couple of weeks to come back, so timing is also similar to first tri screen

Ksteel21 · April 2014

Thank you so much - from the research I've been doing it seems like it would make the most sense to do the Mat21 and skip the other screenings. If I'm reading it right, if the earlier screens are bad, there's nothing they can do except more testing, right? If the Mat21 shows a problem, it's not like there is anything that can be done about it - it's just a matter of deciding if we can continue the pregnancy (not that that's "just" anything) - but it doesn't seem like it would make a huge difference whether it is done early or a little later. The early tests seem to be for the purpose of reassuring you that everything is okay - I'm all right with assuming everything is okay until I am covered. Am I missing anything? I could then not have an ultrasound until 16 weeks - after all, millions of women go through pregnancy without any ultrasounds at all, right?

What is the latest you can do the Mat21? 13 weeks?

It's so hard to separate out what you NEED to do vs. what is just standard to do.

2redtulips · April 2014

The Materniti21 website says the test can be done "as early as 10 weeks," but it doesn't mention how late. I am sure 14 weeks would be fine, but ask your provider.

I had the Mat21 at 10.5 weeks and then a blood draw at 16 weeks to test for spina bifida (based on family history). I won't be doing any other testing.

Also, the company that makes the Mat21 test will help with the cost. It's called Sequenom. They will send you a letter after you receive your results with instructions on how to contact them, if you do need help paying for the test. (I think they try to get the cost down to $250 for the patient.)

Ksteel21 · April 2014

That's fantastic - thank you so much for the information. Really appreciated!

sas2551 · April 2014

Also, make sure that your insurance will eventually cover the Maternit21 (mine didn't even though I'm over 35, and many insurance companies won't)- if you're going to to get it and have to pay for it either way then you might as well do it sooner rather than later.

MsViolet · April 2014

The Mat21 test is not a diagnostic test. It is just a more accurate screening test with fewer false positives than the other tests. You would still want an amino or cvs to confirm a problem if you are thinking of terminating the pregnancy, because there is still a chance of false positives (and false negatives).

dragonfly711 · April 2014

If you decide to do Materti21 the most you have to do is pay $200. I have pretty good insurance and they only paid 1,000. I had to pay another 1,100. My Dr said only $200. I called the lab and told them my Dr said I would only have to pay $200. She said ok no problem we will discount your bill.

I also had the NT scan done at the same time I was 12-13 weeks. If there were issues then we would have discussed other options. Hubby has a nephew with Downs and I am 40.

Ksteel21 · April 2014

Okay, this is the part I don't understand:

"The Mat21 test is not a diagnostic test. It is just a more accurate screening test with fewer false positives than the other tests. You would still want an amino or cvs to confirm a problem if you are thinking of terminating the pregnancy, because there is still a chance of false positives (and false negatives)."

From what I have been reading, the two other tests are also just screening tests, and less accurate. It seemed like people were taking the Mat21 AFTER having bad (positive) results from the cvs to see if they could eliminate false positives. I understand that amnio is slightly more accurate but it's a matter of a few fractions of a percentage. So why would I have them after?

MsViolet · April 2014

I have never heard of anyone getting a cvs or amino before getting the Mat21 or other new NIPT tests. It wouldn't make any sense because of what I said in my previous post. Once you get the result of your NIPT (such as Mat21, Harmony, Panorama, etc), you can then choose to confirm the result with a diagnostic test such as the cvs or amnio if you have a high risk result. The information sheet I got from my doctor says: "if you have a high risk result (on the NIPT) you will be offered a cvs or amniocentesis". The genetic counselor I saw and my doctor have also told me the same thing.

The cvs and amnio are 100% accurate diagnostic tests, but they each have a small risk of miscarriage.

QOTR · April 2014

Ksteel21 said:

Okay, this is the part I don't understand:

"The Mat21 test is not a diagnostic test. It is just a more accurate screening test with fewer false positives than the other tests. You would still want an amino or cvs to confirm a problem if you are thinking of terminating the pregnancy, because there is still a chance of false positives (and false negatives)."

From what I have been reading, the two other tests are also just screening tests, and less accurate. It seemed like people were taking the Mat21 AFTER having bad (positive) results from the cvs to see if they could eliminate false positives. I understand that amnio is slightly more accurate but it's a matter of a few fractions of a percentage. So why would I have them after?

People would get the Mat21 (or equivalent) after a worrisome NT scan or Quad Screen, but before CVS or amnio. The NT Scan and Quad screens factor in our ages as a component so the "risk factor" is already elevated due to age. The Mat21 / Harmony / Panoorama, etc. are much more accurate than the NT Scan & Quad screenings. Like MsViolet said, if you received questionable results from the Mat21 / Harmony / Panorama, etc. tests, a CVS or Amnio could provide definitive results, but with an elevated miscarriage risk.

Best of luck to you!

Ksteel21 · April 2014

That really helps, thank you!!! So if you have a "clean" MAT21 test you don't need the cvs or amnio, but if it shows a risk you can decide if you need to clarify it further with a CVS or an amnio, is that right?

QOTR · April 2014

I do want to add that since Mat21 (& the others) are still considered screening & not diagnostic, there are some folks that prefer to skip the screening tests and go directly to the diagnostic tests of CVS or Amnio. There is no right or wrong approach. It is a decision that each couple has to make.

Ksteel21 · April 2014

I saw the midwife today and she was great. She recommends the Mat21 and I'm setting it up today - and they do say they will keep the cost around 200 if your insurance doesn't cover it. we didn't talk about what we'll do if it comes back with bad results, but she basically presented it as an alternative to amnio. thanks everyone for their information and support!

MrsDL · April 2014

MsViolet said:

I have never heard of anyone getting a cvs or amino before getting the Mat21 or other new NIPT tests. It wouldn't make any sense because of what I said in my previous post. Once you get the result of your NIPT (such as Mat21, Harmony, Panorama, etc), you can then choose to confirm the result with a diagnostic test such as the cvs or amnio if you have a high risk result. The information sheet I got from my doctor says: "if you have a high risk result (on the NIPT) you will be offered a cvs or amniocentesis". The genetic counselor I saw and my doctor have also told me the same thing. The cvs and amnio are 100% accurate diagnostic tests, but they each have a small risk of miscarriage.

Actually CVS is not always 100% accurate. There is a small chance of a false mosaicism showing-up (placental mosaicism), then you need amnio to confirm if you are is a fraction of a percentage of the population where the baby actually has this or the sample was not adequate. The same thing might show-up with Materniti21 from what I've read. I had a friend who had this happen. She was over 40 and went right for the CVS, it showed a mosaicism. She had it at 11 weeks, had to wait until 16 for the amnio. I'm making a guess that if somebody goes straight for CVS and has this result, perhaps they would have Materniti21, Harmony, etc. to see if they get the same result since it's so rare to really occur. If the non-diagnostic test comes back negative, everything is likely OK. A few weeks from a CVS to amnio at 16 weeks is a long time to wait if you think something catastrophic might be wrong.

https://www.ncbi.nlm.nih.gov/pubmed/2286032

CMBHolmes76 · April 2014

I just took at Mat21 and it return with the baby having Turner's Syndrome. Had the amnio done and everything so far has returned normal. If everything is good on your Mat21, then you're good.

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