Update on that new highly accurate pre-natal test for trisomies... « Back to Group Discussions

[phatchristy]

I mentioned the MaterniT21 back in a thread that we had earlier on in our pregnancies, the test that uses fetal DNA present within maternal blood to test for trisomies.  However, the lab which did the test did not have coverage with our insurance and I would have had to have it done at another facility and be responsible for it out of pocket.  That tests for three trisomies, 21, 13 and 18 starting at 10 weeks.  

Well, the midwives had encouraged me to do some of the 'afp' screening...however, due to my age, being on the fluffy side and not being exactly sure of dates I knew even doing the quad screen would make it highly likely to get a false positive then be left uncertain of what to do next, if anything.  So, at that point I had figured that I wouldn't do any testing.  But, I'll admit I was stressing and kind of worrying about things being 'normal' since this pregnancy was unexpected and I'm an older mom now.

Well, I found out from another forum a couple of days ago, that a similar test is now available through a labcorp company which also tests for fetal dna in the mother's blood.  It's call the Harmony Prenatal Test.  The cool thing about this is that this company is contracted with most insurance companies!  I did more research in the last two days, found out that my insurance company covers it and the facility is in network.  The funny thing is, the test is so new that it seems like only a limited amount of people seem to know about it.  This similar test through the lab corp company actually has only been available about a month!  But it looks like their clinical research detected 99% of the trisomies and there was only a false positive rate of 0.1% which is far more accurate than the NT and other combined screens.  

So, I think I'm going to go for this one, I had quad screening done with past pregnancies though this time being older this seems like a better, more accurate option.

[sunseeker]

Good luck with your testing! I did the Verifi screen, which was seemingly the only one offered by the perinatologists around here, and it was covered by insurance.

[phatchristy]

Originally Posted by sunseeker 

Good luck with your testing! I did the Verifi screen, which was seemingly the only one offered by the perinatologists around here, and it was covered by insurance.

I heard about the verify as well, did a little research on that but they didn't offer any discounts for people without insurance.  The Harmony one is the most recent one, since I don't have a ppo, the first two (MaterniT and Verifi)  wouldn't have been covered by insurance for me.  The lab that Harmony is done at has contracts with something like over 500 insurance companies...so it's going to be something that people who have hmos and epos are going to have an easier time getting coverage with from what I'm hearing.  I spent an hour yesterday calling between the company and my insurance company to get the information I needed to verify that it indeed was covered!  

I'm assuming everything went well with the testing?  I've been worrying about things too much here recently and I'm hopeful it's going to give me some peace of mind.  The big thing here is that this is new territory for the freestanding birth center that I have my prenatals at...I pretty much have had to educate them on these new tests because everytime I talked about them before they wanted to assume it was a newer version of the quad screen.  Just the idea of it being genetic is all news!  

[tropicana74]

Originally Posted by phatchristy 

But, I'll admit I was stressing and kind of worrying about things being 'normal' since this pregnancy was unexpected and I'm an older mom now.

Hardly! You and I are the same age! I don't think you are an older mom!

Funny though, at my last appt. with the MW she asked if I wanted a regular anatomy scan or if I would like a level II u/s. I thought OMG, is she asking what I think she is asking! So I nicely asked why I would need that. She said that it was an option to me because of my AMA! I kind of laughed and said I am 37 NOT 47, I think I will stick to the regular u/s. 

But, my mom was still having babies at my age so I guess I just never thought much of it. 

So, have you scheduled the test?

[phatchristy]

Originally Posted by tropicana74 

So, have you scheduled the test?

Well, as for me being an 'older mom' I guess it's all relative.  I pretty much thought I was done having kiddos with the last one, and he was born a few days after my 34th birthday.  Back then I felt 'more pressure' to complete the family before 35.  But hey, sometimes no matter what we have in mind the universe decides otherwise.  And, I used to joke that if I'd started earlier (I waited almost 7 years after getting married to have one) I'd probably have like 10 by now.  So, of course I love babies and kids! 

Well, it's only supposed to be a regular blood draw...so the issue is where they're going to have me do the blood draw.  Likely in the office, however I guess there are special vials that they need to get (at least that's what it sounds like).  If they can use regular vials from Lab Corp chances are they'll just get the blood when the get the blood for my regular prenatal panel tomorrow.  I gave them the contact information for the test and they're supposed to call them.  I saw online they can even download the requisition forms so I'm hoping it's going to be an easy process!  Kind of makes me feel like a 'high maintenance' patient as I know so many there don't do any testing.  Back when the quad screen first became available and they didn't offer it I had to make a special request back then for them to do it too LOL!  Being that I'm known for quick and easy births I guess I make up for it with that...

Interestingly enough they tried last time to draw blood and couldn't get it...could have been that I was puking a lot the two days before!  I've been really concentrating on chugging water today so I'm hoping that's going to help.

[GreenTeaGinger61]

Well I''m the "older mom" who got the diagnosis...39. But you know on the DS board I'm on there are a ton of moms in their early 20s! 

Anyway I think it's a great idea. I wish I had known about the blood test before I did the amnio. It's spoken of very highly on the baby center DS board (which is awesome by the way). 

[tropicana74]

Originally Posted by GreenTeaGinger61 

Well I''m the "older mom" who got the diagnosis...39. But you know on the DS board I'm on there are a ton of moms in their early 20s! 

Yeah, that's always the tricky part. The only people I have ever known IRL with DS babies were 25 and 31...not exactly high risk ages. 

[lizzie28]

Good luck on the testing!  I did the MaterniT21.

[phatchristy]

Originally Posted by tropicana74 

Yeah, that's always the tricky part. The only people I have ever known IRL with DS babies were 25 and 31...not exactly high risk ages. 

I have known a couple of adults who have down syndrome from a club I used to be in.  Their mom had 10 kids and the last one was a girl, who was in her mid 40s and used to come with her to the club meetings.  She also had a male friend from the same assisted living place she would bring who also had it.  She was incredibly friendly and sweet, the guy she brought was a lot more quiet and didn't talk much.

Originally Posted by GreenTeaGinger61 

Well I''m the "older mom" who got the diagnosis...39. But you know on the DS board I'm on there are a ton of moms in their early 20s! 

Anyway I think it's a great idea. I wish I had known about the blood test before I did the amnio. It's spoken of very highly on the baby center DS board (which is awesome by the way). 

There's just more people in their 20s and early 30s having babies I think.  I even thought I was done nearly 4 years ago.  I think, for older women especially, it's going to make things so much safer.  The amnio always carries a risk to the baby, and it's not something I would want to do unless I was certain there was likely a major problem.  I probably should have gotten the nuchal screen, except the idea of an early ultrasound gives me the heebie geebies.  One of my kids had an early u/s (I had bleeding and the mw thought it was necessary) and he has had so many issues with speech delay, etc. which I hear is more common in boys who have had early ultrasounds.  So, this likely is going to work better for giving me some peace of mind!  

I'd almost like to forego an ultrasound altogether, though I'm not certain yet.  I've had the 20+ week one with the other kids, and the person who does them knows I want her to be done asap, so she does it as quickly as she can.

[phatchristy]

Sigh...I'm at another level of frustration.

Although the places I spoke to online (the actual lab, etc.) says this is widely available and it's an 'easy process' (aka "all we have to do is send them the vials and give them instructions on where to send them" ) it sounds like after talking to the staff at the birth center they're making them see a representative and that she's hearing that they're not really set up to do the testing and may not be for another month.  

So I'm starting to wonder now what the heck is going to happen.  I just wanted this for peace of mind since I chose not to do the NT or any other blood tests.  I opted not to do the quad screen (which I did before) because of this test being supposedly available and not having any limitations based on age, etc.  So now I'm scratching my head wondering what the heck.

I'd originally figured that I'd just go through everything and just find out whatever I get at birth, however some are saying it's better to know in advance.  I'm just having a feeling I'm just going to wind up not doing anything if it turns out to be another month.  I don't know if I can take the stress. 

So I'm worried about this, when likely I shouldn't be.  I feel stupid as well as I feel now like I've made things MORE complicated for myself.  The last year has been very stressful so it's not like I need more stress.

[Mamabeakley]

Aww.  I'm trying to decide whether to ask about these tests when I go in for my blood draws later this month.  I haven't had any bloodwork yet because we needed to get set up with insurance first.  I'll be going to a CNM who is good friends with my CPM to get it dealt with in a way that won't cost me lots of $, and I have no idea if they are set up to do the genetic tests or not.  I don't think I'm up for what you're going through, pushing it through if it's not set up yet, though.  I have never had any of the screening or ultrasounds and have always been trusting that baby would be fine - but I'm 35 now and given the choice, without invasive or stressful testing, I would rather know if I were having a baby with a serious genetic issue ahead of time.

[phatchristy]

Originally Posted by Mamabeakley 

Aww.  I'm trying to decide whether to ask about these tests when I go in for my blood draws later this month.  I haven't had any bloodwork yet because we needed to get set up with insurance first.  I'll be going to a CNM who is good friends with my CPM to get it dealt with in a way that won't cost me lots of $, and I have no idea if they are set up to do the genetic tests or not.  I don't think I'm up for what you're going through, pushing it through if it's not set up yet, though.  I have never had any of the screening or ultrasounds and have always been trusting that baby would be fine - but I'm 35 now and given the choice, without invasive or stressful testing, I would rather know if I were having a baby with a serious genetic issue ahead of time.

Well, I basically have found out that she thinks the earliest they would be able to draw the blood would be on the 15th (she originally said the 21st, but then changed it realizing someone else was working).  They said the blood would then have to be overnighted to California for the testing (apparently it's not set up locally exactly as they said it was).  Then it would be another 8-10 days before they found results.  I would either have *peace of mind* or worst case scenario results that would then require other testing.  

She said my other possibilities are still the quad screen (they can do that up to 20 weeks, I'm around 18.5).  But the accuracy of this test is not that great, especially at my age.  She said I could take it and expect to 'fail it' and then go for the level 2 ultrasound.  She is assuming that insurance won't cover a level 2 for no reason, but it seems like most people I know over 35 have level 2s automatically?  She also told me that if there was something majorly wrong they don't terminate after 16 weeks....which I am pretty sure I've heard if there is something major they do permit later.  

I could just go with the regular ultrasound and see if everything looks 'ok' there and then make my decisions.  Looks like they could do that at 19 weeks, which would be next week.  Sigh.

She thinks I should go with my mother's intuition on this one.  I think I'm so frazzled I have none left.  :(

[Mamabeakley]

That's so frustrating!

You could go somewhere and terminate, especially with a catastrophic diagnosis, up to 24 weeks, I think.  It's complicated, though, and there's no guarantee that a) your particular state allows it or b) there's actually a provider in your state you could get in with in a timely fashion.  I had doula/CBE clients who had a catastrophic (baby will not survive birth) diagnosis mid-pregnancy in a previous pregnancy to the one I worked with them in.  They did choose to terminate - I don't remember all the details but apparently where they lived they were able to find a doctor who simply did what was basically an induced labor, and were able to hold their baby and get pictures and all that sort of thing after he was born at a non-viable stage. 

[nhklh]

It's so sad an infuriating that safe pregnancy termination services are not readily available to all women, whenever, wherever, and however they need them.

[stegenrae]

christy, I know you said you don't like ultrasounds, but if it turns out to be next to impossible to get the blood test, why not get the 20+ anatomy scan and have the tech make a special point to look extra-closely for soft markers for issues? That's more or less what I did because of a blood test/timing snafu...it gave me the peace of mind I was looking for.

[phatchristy]

Originally Posted by stegenrae 

christy, I know you said you don't like ultrasounds, but if it turns out to be next to impossible to get the blood test, why not get the 20+ anatomy scan and have the tech make a special point to look extra-closely for soft markers for issues? That's more or less what I did because of a blood test/timing snafu...it gave me the peace of mind I was looking for.

Yep, I pretty much did that.  Just had the ultrasound this morning.  According to the ultrasound tech everything looked normal.  Which hopefully means that everything is going to wind up normal.  

I'm not horribly against ultrasounds, but don't go for anything early and if having one do it short.  

What wound up happening with the harmony test-- the birth center got a call back from their laboratory rep.  She said that there are now licensing issues with the test, and so they now are delayed and won't be able to do it until at least September.  So, it looks like at this point there isn't going to be much of a possibility, the timing is just off.  Looks like these tests will be great for women once they are available everywhere!