MaterniT21 testing

[sporklemotion]

I did it and the results were conclusive-- the odds are more clear than the integrated screening, and it doesn't factor in your age, giving you elevated odds if you're over a certain age . It looks at fetal DNA for higher than expected amounts of chromosomes (what you would see with a trisomy). If you want to know the info, the only real downsides are that it can take up to two weeks to get the results, which can feel like forever if you're a worrier like me, and a few people have to repeat the test because the first draw doesn't have enough fetal DNA In it. Some people do choose to skip all of these screenings, but that is a different issue.

[awick14]

My OB offered it but said its not recommended for someone my age. (25)

I chose to not do the testing, as I don't want to find out the sex and the worrying waiting for results would drive me crazy. I also do have a friend who did the testing and it come back negative for downsyndrom and he does have downs. So I am not sure how accurate the results even are. (But my judgement could be clouded by my friends experience)

[runblondie26]

I had it done in combination with the standard NT scan.

I'm not over 35 or in a high risk group, I just wanted the best non-invasive test available. It required being a little vocal in order to get it, but it was worth it for the extra piece of mind IMO.

[stealthmom]

Dec 3, 2013 0:56:27 GMT -5 awick14 said:

My OB offered it but said its not recommended for someone my age. (25)

I chose to not do the testing, as I don't want to find out the sex and the worrying waiting for results would drive me crazy. I also do have a friend who did the testing and it come back negative for downsyndrom and he does have downs. So I am not sure how accurate the results even are. (But my judgement could be clouded by my friends experience)

The m21 gave your friend a false negative? The test is 99% accurate.  Are you sure you're not talking about the screen?

Op- I did it since it's 99% accurate.

[HoneySpider]

The thing to remember about M21 is that it only detects for 3 trisomies. It's going to be pretty accurate for those 3 but for anything else, it's not helpful. So if you're only worried about the 3 it tests for, go for it. But if you're worried about other issues for some reason, keep in mind that it will be worthless to detect them.

My daughter had severe defects with chromosomes and organs and our M21 was fine. It gave us false hope when there really were major issues....it wasn't until the amnio that we could tell what was wrong. I know our situation wasn't normal but I think people put too much stock into M21, as if a negative result means a healthy baby and that's not always the case. It just means healthy for those 3 issues.

[D2M]

HoneySpider, thank you for your insights and although I knew your story already, I didn't know some of the details of when you found out, etc. If you don't mind sharing, was it at your amnio that you found out about the problems? And if so, what made you decide to get an amnio in the first place? My OB is not steering me toward getting one and most of my friends don't seem to get them either (except for one friend, who is older). I was under the impression that if the NT scan had no red flags, there would be no need for an amnio. But I do want to be cautious...

Hugs and I hope you get happy news soon.

[HoneySpider]

Dec 3, 2013 11:13:22 GMT -5 D2M said:

HoneySpider, thank you for your insights and although I knew your story already, I didn't know some of the details of when you found out, etc. If you don't mind sharing, was it at your amnio that you found out about the problems? And if so, what made you decide to get an amnio in the first place? My OB is not steering me toward getting one and most of my friends don't seem to get them either (except for one friend, who is older). I was under the impression that if the NT scan had no red flags, there would be no need for an amnio. But I do want to be cautious...

Hugs and I hope you get happy news soon.

We first found out there were issues when we went in for the NT scan - we didn't even get to the actual NT scan part because as soon as the baby came up on the u/s it was apparent there was something wrong. She had no definition. We were then sent back to talk with my ob/gyn and she told us it was a cystic hygroma, which is a build up of fluid on the head, neck, and spine and is normally an indication of chromosomal abnormalities & incompatible with life.

At that point we did the M21...and everything came back normal. Cystic hygromas can sometimes resolve themselves so we were hopeful that there weren't any major issues and this was something that was going to go away or at the very least lessen. 

After that u/s I started seeing the MFM specialist. Around 16 weeks he was able to see her heart enough to know there were problems (appeared one ventricle was either missing or severely underdeveloped), although at that early on it's still really hard to see. This is when we opted to do the amnio and the results told us that there were 2 chromosome issues - one deletion and one inversion. With this type of issue it's common to see problems with organs, particularly the brain and heart, so it all sort of made sense.

(My whole story is here but this is the nuts and bolts of it)

I agree that if there are no other red flags then an amnio probably isn't necessary. Of course there could always potentially be issues but when it's so severe, it usually displays itself in several ways, you know?

Anyway, this is why I am not a fan of M21....it's a good basic test but it leaves out so, so much. 

[kermit]

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

[HoneySpider]

Dec 3, 2013 11:54:48 GMT -5 kermit said:

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

No problem. I had absolutely no reason to think any of these tests would be necessary, we actually debated on getting the NT scan and almost didn't but I'm so glad we did - otherwise out first u/s would have been ~20 weeks and it would have been horrible to be finding out at that point what we were dealing with. 

[D2M]

Thank you for sharing, HoneySpider. I can't imagine going through what you went through. Hugs.

[kermit]

Dec 3, 2013 12:10:34 GMT -5 HoneySpider said:

Dec 3, 2013 11:54:48 GMT -5 kermit said:

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

No problem. I had absolutely no reason to think any of these tests would be necessary, we actually debated on getting the NT scan and almost didn't but I'm so glad we did - otherwise out first u/s would have been ~20 weeks and it would have been horrible to be finding out at that point what we were dealing with. 

That's what scares me - not finding out for a long time. Well, that and it happening at all. My next appt is on the 17th and she said we'll try to find a heartbeat on the doppler and if we can't, then do an ultrasound. So there may not be an ultrasound at all for another 6 weeks or more. I know we'll draw blood that day for the M21 but I'm going to try to get her to schedule me for an NT scan before Xmas. I thought she'd be a little more pro-testing since I'm 38 but she seems pretty breezy about it.

[HoneySpider]

Dec 3, 2013 12:14:29 GMT -5 D2M said:

Thank you for sharing, HoneySpider. I can't imagine going through what you went through. Hugs.

Thank you!

Yeah it really sucked

[speckledfrog]

Dec 3, 2013 12:10:34 GMT -5 HoneySpider said:

Dec 3, 2013 11:54:48 GMT -5 kermit said:

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

No problem. I had absolutely no reason to think any of these tests would be necessary, we actually debated on getting the NT scan and almost didn't but I'm so glad we did - otherwise out first u/s would have been ~20 weeks and it would have been horrible to be finding out at that point what we were dealing with. 

Our NT screening came back at 18 weeks with an elevated risk of Down Syndrom and we were originally given the option of doing the MaterniT21 and I was freaking out that it takes about 10 days to come back.  Being so far along and facing a long wait before finding more results was incredibly stressful and completely awful.  When we went in for the follow up u/s our doctor said we could do an amnio and I pounced.  Faster results (2 days) with complete accuracy.  Things ended up coming back normal, but it was an absolute relief just to know I wouldn't already be 20 weeks when the results came in.

This is our last baby, but if I were ever to get pregnant again, I really think I would just push for the amnio straight off the bat.  We ended up having elevated risks with both pregnancies and I'd rather find out ASAP than going through the rigamarole of doing the NT screening first, especially since the office we use takes weeks.

[stealthmom]

Dec 3, 2013 11:54:48 GMT -5 kermit said:

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

honestly if yiu're that worried I'd just go straight to an amnio. I got it done and it was nbd. I know there is a 1 in 500 chance of mc but it's something to think about.

[kermit]

Dec 3, 2013 18:18:47 GMT -5 stealthmom said:

Dec 3, 2013 11:54:48 GMT -5 kermit said:

HoneySpider Thanks for your input. My doctor said they normally don't recommend doing both M21 and NT scan but I think I'm going to push for both anyway. I'm super nervous about something being wrong.

honestly if yiu're that worried I'd just go straight to an amnio. I got it done and it was nbd. I know there is a 1 in 500 chance of mc but it's something to think about.

I thought about it, but the m/c risk scares me and I thought you couldn't do amnio until about 16 weeks, while NT can be done around 12. I was thinking if the NT showed anything I could go ahead and do the amnio. I'm going to talk to my doctor about it - for some reason I feel like it's beyond the realm of possibility that I'll have a healthy pregnancy and baby. I'm not even that anxious about it, just detached because it seems so likely. I have no reason to think this except for my age and I know it's prob not normal to feel this way, so I want to tell the doctor about it.

[stealthmom]

Dec 3, 2013 18:27:17 GMT -5 kermit said:

Dec 3, 2013 18:18:47 GMT -5 stealthmom said:

honestly if yiu're that worried I'd just go straight to an amnio. I got it done and it was nbd. I know there is a 1 in 500 chance of mc but it's something to think about.

I thought about it, but the m/c risk scares me and I thought you couldn't do amnio until about 16 weeks, while NT can be done around 12. I was thinking if the NT showed anything I could go ahead and do the amnio. I'm going to talk to my doctor about it - for some reason I feel like it's beyond the realm of possibility that I'll have a healthy pregnancy and baby. I'm not even that anxious about it, just detached because it seems so likely. I have no reason to think this except for my age and I know it's prob not normal to feel this way, so I want to tell the doctor about it.

is this your first? Are you seeing someone about your anxiety?

[kermit]

Yes, it's my first. I had a miscarriage the cycle before I got pregnant so I'm sure that contributes to this. I'm not seeing anyone. I don't think anything could really help except maybe weekly ultrasounds to verify everything is okay, or as okay as you can know about. Like I said, I just feel kind of detached - I'm not having any symptoms that aren't caused by progesterone and since I'm supplementing with that, I feel like I'm not really having pregnancy symptoms at all. It just doesn't feel like I'm pregnant. I hope hearing the heartbeat in two weeks will help.

[speckledfrog]

Dec 3, 2013 18:27:17 GMT -5 kermit said:

Dec 3, 2013 18:18:47 GMT -5 stealthmom said:

honestly if yiu're that worried I'd just go straight to an amnio. I got it done and it was nbd. I know there is a 1 in 500 chance of mc but it's something to think about.

I thought about it, but the m/c risk scares me and I thought you couldn't do amnio until about 16 weeks, while NT can be done around 12. I was thinking if the NT showed anything I could go ahead and do the amnio. I'm going to talk to my doctor about it - for some reason I feel like it's beyond the realm of possibility that I'll have a healthy pregnancy and baby. I'm not even that anxious about it, just detached because it seems so likely. I have no reason to think this except for my age and I know it's prob not normal to feel this way, so I want to tell the doctor about it.

FWIW, I felt very similarly this pregnancy.  I think it's just a defense mechanism.

[stealthmom]

Dec 3, 2013 18:35:54 GMT -5 kermit said:

Yes, it's my first. I had a miscarriage the cycle before I got pregnant so I'm sure that contributes to this. I'm not seeing anyone. I don't think anything could really help except maybe weekly ultrasounds to verify everything is okay, or as okay as you can know about. Like I said, I just feel kind of detached - I'm not having any symptoms that aren't caused by progesterone and since I'm supplementing with that, I feel like I'm not really having pregnancy symptoms at all. It just doesn't feel like I'm pregnant. I hope hearing the heartbeat in two weeks will help.

if you haven't done so already I would just encourage you to share how you're feeling with your doctor. Good luck. I'm sure everything is fine. HUGS.

[chickadee77]

I absolutely appreciate what HoneySpider has gone through, and I agree with many of her points. However, I had the M21 done (at 35) and recieved a positive result, which was then confirmed with CVS. According to my MFM doctors, there are many more cases than most people are aware of where conditions such as DS are not determined by u/s alone - markers or indicators are not necessarily present, or identifiable, until birth. So, if termination is an option for you and your H, I highly recommend M21 as an early screening test. No, it doesn't mean everything is 100% a-okay, but it does potentially take three biggies off the table, and you can get those answers before you reach the 24-week cutoff.

Frankly, having the test done does not cause your child to have a condition. It seems a lot of people are scared to have it done, for reasons I am unable to understand - outside of financial hardship - though since I was over 35, mine was completely covered by insurance (I'm not necessarily talking about people on this board, but in general). Have it done or don't, but either way, it won't affect what is actually happening with your child. Having the test done just gives you more information about what is happening inside of your body, and with your baby.

As long as you're aware of what is and is not covered in the test, I would go for it again in a heartbeat (and am, tomorrow, actually).

[chickadee77]

Dec 3, 2013 18:35:54 GMT -5 kermit said:

Yes, it's my first. I had a miscarriage the cycle before I got pregnant so I'm sure that contributes to this. I'm not seeing anyone. I don't think anything could really help except maybe weekly ultrasounds to verify everything is okay, or as okay as you can know about. Like I said, I just feel kind of detached - I'm not having any symptoms that aren't caused by progesterone and since I'm supplementing with that, I feel like I'm not really having pregnancy symptoms at all. It just doesn't feel like I'm pregnant. I hope hearing the heartbeat in two weeks will help.

I, too, understand this, and the feelings in your other post. I don't have many symptoms, and after a m/c and a TFMR, I feel like there's no way this will possibly work out. Yes, detached. I think I was so emotionally involved in the other two losses, that it's like I'm holding back, "just in case." 

Anyway, you're not alone, and (((hugs))) to you.

[sporklemotion]

That is heartbreaking, HoneySpider. I worried throughout my pregnancy that the good results were giving me a false sense of security, and I get where you're coming from. That said, as someone at higher risk for trisomies, the testing was helpful to me.

I felt very similar to you, kermit and chickadee77, due to a previous loss, AMA (I am over 40), few early symptoms of pregnancy, and a belief that I may not be "meant" to have a baby. Before the 20 week scan, I wouldn't buy much maternity clothing and usually waited until after hearing a heartbeat at an appointment to do so. I bought no books or supplies until after that date. We didn't tell my MIL until the Mat21 came back in, and didn't tell anyone else until after the anatomy scan. I am definitely an extreme case, and maybe I should have seen someone for help, but once I got past the scan, things got better for me. Feeling movement also helped.

When she was born and came out healthy and screaming, all I could do was cry and cry because I never thought it would work out. So do hang in there-- it can (and hopefully will) work out fine.

[HoneySpider]

I'm not saying that the test is worthless or no one should get it but I think it's important to remember that it's really limited. Of course it can be helpful in many situations but not in all.

[awick14]

Dec 3, 2013 3:10:59 GMT -5 stealthmom said:

Dec 3, 2013 0:56:27 GMT -5 awick14 said:

My OB offered it but said its not recommended for someone my age. (25)

I chose to not do the testing, as I don't want to find out the sex and the worrying waiting for results would drive me crazy. I also do have a friend who did the testing and it come back negative for downsyndrom and he does have downs. So I am not sure how accurate the results even are. (But my judgement could be clouded by my friends experience)

The m21 gave your friend a false negative? The test is 99% accurate.  Are you sure you're not talking about the screen?

Op- I did it since it's 99% accurate.

It did give her a false negative. Her doctor said that yes there is only a 1% chance that its wrong. I guess she is part of the 1%.

[stealthmom]

Dec 4, 2013 11:40:42 GMT -5 awick14 said:

Dec 3, 2013 3:10:59 GMT -5 stealthmom said:

The m21 gave your friend a false negative? The test is 99% accurate.  Are you sure you're not talking about the screen?

Op- I did it since it's 99% accurate.

It did give her a false negative. Her doctor said that yes there is only a 1% chance that its wrong. I guess she is part of the 1%.

dude. :-(