Do y'all do all these tests? The maternal DNA test for the CF/Fragile X/some other gene, then the fetal DNA test for chromosomal disorders? My doctor seems to think it's a good idea since they're very low risk. I guess I didn't know much about them until today (first OB appointment) and didn't realize that low-risk people would be recommended to test as well.
ETA: I am 31, no history of genetic disorders in either of our families.
I didn't because it wouldn't have been covered by my insurance. It costs like over $1000 but I heard you can negotiate down to $300 if it wasn't covered. I didn't want to take that risk but would have definitely taken one of those tests otherwise. I did get the nt scan.
We did the M21, but since I am 35, that put me in the bracket where insurance covered it. If not, I would have possibly paid OOP, since I think it's an important and accurate test.
Post by andthentherewere10 on Dec 20, 2013 7:12:12 GMT -5
We would have done all screenings offered but only the NT scan/bloodwork was offered. We would have had to pay OOP for M21/Harmony/Panorama. I am 28 but my husband is quite a bit older than me, which is why I was concerned (even though I knew advanced paternal age doesn't mean quite the same thing as advanced maternal age)
Post by timorousbeastie on Dec 20, 2013 8:47:30 GMT -5
I did the maternal tests as well as the NT test. My OB will only do the fetal genetic tests if something looks off on the NT scan. I'm a big fan of having all the information I possibly can, so I can be prepared for different possible outcomes, so I'll do any screening that's offered. I'm of the opinion that, since the M21/Panorama/Harmony only require a blood draw, why not do it if offered? Obviously, not everyone feels the same way, and there's nothing wrong with that at all, so it's just a matter of personal choice.
I just had a blood draw for the M21 test, but I'm 38 so I'm a little more worried than I would be if I were your age. I'd still do it even if I were younger though.
My OB just did the maternal tests without even mentioning, along with the other basic blood work. NT scan and bw were also automatic. Fetal DNA tests are not accurate for twins so that wasn't offered to me.
I am confused because my OB said the CF test is $35 after insurance, and I won't be charged for the fetal DNA test? I definitely don't want a $1000 genetic screening.
I know it's a personal choice, but it's hard to make an informed decision with little information. The fetal DNA test is brand new, and I know there must be some people who decline it for a particular reason.
Post by timorousbeastie on Dec 20, 2013 11:31:22 GMT -5
I think the main reasons people decline are either cost or they don't want to be anxiety of either waiting for the results or after getting bad results (especially for screens like the NT, where it only gives you odds, not a definitive answer). I personally would rather know as soon as possible if something is potentially wrong, others would prefer to avoid the anxiety and wait to find out, since odds are everything will be fine.
Post by timorousbeastie on Dec 20, 2013 11:33:18 GMT -5
Oh, and the cost is going to depend on your insurance. My OB told me the CF test could be up to several hundred dollars, but it turned out my insurance covered it 100%.
Post by Wonderwall on Dec 20, 2013 12:57:30 GMT -5
Same age as you. Didn't know they would be offered to me either.
I'm leaning towards not doing them.
I posted a thread about this last week I think? Check it out there were MANY good responses in there- check it out. Helped me process and come to a decision. (I think? HA!) I have to let my OB know by Jan 2nd.
Post by statlerwaldorf on Dec 21, 2013 0:54:48 GMT -5
I am doing the nt scan and blood work next week. I can't remember what the blood work test was specifically. My doctor did not recommend it (I'm 26). It was something I requested. My insurance covers it and I figured I would like to be prepared.
Thank you so much. This is really helpful. I will look back through a few days of discussion before I post another question!
I guess what I'm still not clear on is whether an amnio is the next step after a positive DNA test. Does the amnio give more definitive results? What is the rate of false negatives in the cell-free DNA test? It's so new that I don't know where to find this information other than in research papers, and I'm not on campus too access them. (Not sure I'm up for wading through statistics, either.)
Thank you so much. This is really helpful. I will look back through a few days of discussion before I post another question!
I guess what I'm still not clear on is whether an amnio is the next step after a positive DNA test. Does the amnio give more definitive results? What is the rate of false negatives in the cell-free DNA test? It's so new that I don't know where to find this information other than in research papers, and I'm not on campus too access them. (Not sure I'm up for wading through statistics, either.)
The cell free DNA tests have a 1% chance of a false positive. The only downside is that certain tests look for only certain things. So for example Maternity21 only looks for 3 chromosomal abnormalities (13,18,22) but some other brands can be more extensive. But it is a yes or no answer rather than a ratio of risk like the NT scan.
The amino is a full screen for all kinds of genetic abnormalities including partial missing chromosomes and the ones above. It is much more extensive.
But amnios aren't indicated unless you're 35+, yes? What is the next step after a positive test for trisomies? Just wait(/terminate), or a more definitive test?
I'm asking because people in the linked thread were mentioning confirming blood test results with an amnio. Is it more accurate than M21, etc.? (I don't remember the exact brand my OB uses.)
The cell free DNA tests have a 1% chance of a false positive. The only downside is that certain tests look for only certain things. So for example Maternity21 only looks for 3 chromosomal abnormalities (13,18,22) but some other brands can be more extensive. But it is a yes or no answer rather than a ratio of risk like the NT scan.
The amino is a full screen for all kinds of genetic abnormalities including partial missing chromosomes and the ones above. It is much more extensive.
But amnios aren't indicated unless you're 35+, yes? What is the next step after a positive test for trisomies? Just wait(/terminate), or a more definitive test?
I'm asking because people in the linked thread were mentioning confirming blood test results with an amnio. Is it more accurate than M21, etc.? (I don't remember the exact brand my OB uses.)
When our NT screening results came back with an elevated risk of a trisomy (18 for my first pregnancy, 21 for the second) we went straight to amnio. The first time we weren't offered the MaterniT21/Harmony and the second time we were. The fact that the test comes back as a odds bothered me. although I know the chance of them being wrong was miniscule, because I wanted an absolute, definitively clear answer. Additionally, I was already 18 weeks and did not want to wait two weeks for the blood test to come back. Miscarriage is a risk with the amnio, but the odds are reallly quite low. I had zero problems or complications.
ETA: I was 30 the at the time of testing for my first pregnancy and 32 for the second.
But amnios aren't indicated unless you're 35+, yes? What is the next step after a positive test for trisomies? Just wait(/terminate), or a more definitive test?
I'm asking because people in the linked thread were mentioning confirming blood test results with an amnio. Is it more accurate than M21, etc.? (I don't remember the exact brand my OB uses.)
When our NT screening results came back with an elevated risk of a trisomy (18 for my first pregnancy, 21 for the second) we went straight to amnio. The first time we weren't offered the MaterniT21/Harmony and the second time we were. The fact that the test comes back as a odds bothered me. although I know the chance of them being wrong was miniscule, because I wanted an absolute, definitively clear answer. Additionally, I was already 18 weeks and did not want to wait two weeks for the blood test to come back. Miscarriage is a risk with the amnio, but the odds are reallly quite low. I had zero problems or complications.
ETA: I was 30 the at the time of testing for my first pregnancy and 32 for the second.
The cell free DNA test (screening?) only gives you odds? Or are you talking about the NT scan?
Post by speckledfrog on Dec 21, 2013 20:25:15 GMT -5
The cffDNA tests are screening tools. From what I understand, the results come back as positive or negative but are based on odds. Although they are highly accurate, it is often recommended to follow up with an amnio or CVS if you get a positive result.
The cffDNA tests are screening tools. From what I understand, the results come back as positive or negative but are based on odds. Although they are highly accurate, it is often recommended to follow up with an amnio or CVS if you get a positive result.
Hmm. I didn't know that. Need to read the brochure when I get home.
In my opinion, if we got a positive for the cell free DNA (we did not do M21 but another brand) an amino would be the next step. Not only would this confirm what was already found but it would highlight if there were other issues as well. ETA: I'm not sure what you mean about the 35+ and amnios but usually the cell free DNA isn't offered to people less than 35 because of insurance. Amnios have no age restrictions. Anyone could go straight to amino if they wished but it is a more invasive test with higher risks of MC (1 in 500). The cell free DNA does not carry those risks it is just the blood screening.
Ditto Swank. My HMO actually requires a visit with a genetic counselor if you are close to 35+ at tine of delivery, to go over all the various screenings and recommendations.
The first time I opted to do the NT scan and quad screen bloodwork. If it had come back with an indication that something was wrong, then the advice was to do an amnio for follow up.
This time I'll be doing the fetal DNA screen. If something is indicated, the counselor recommended an amnio or CVS for confirmation.
ETA: It seems like you are trying to figure out which test is the most accurate & comprehensive. If that is the case, then I believe it is amnio. (not a doctor)
In my opinion, if we got a positive for the cell free DNA (we did not do M21 but another brand) an amino would be the next step. Not only would this confirm what was already found but it would highlight if there were other issues as well. ETA: I'm not sure what you mean about the 35+ and amnios but usually the cell free DNA isn't offered to people less than 35 because of insurance. Amnios have no age restrictions. Anyone could go straight to amino if they wished but it is a more invasive test with higher risks of MC (1 in 500). The cell free DNA does not carry those risks it is just the blood screening.
Ditto Swank. My HMO actually requires a visit with a genetic counselor if you are close to 35+ at tine of delivery, to go over all the various screenings and recommendations.
The first time I opted to do the NT scan and quad screen bloodwork. If it had come back with an indication that something was wrong, then the advice was to do an amnio for follow up.
This time I'll be doing the fetal DNA screen. If something is indicated, the counselor recommended an amnio or CVS for confirmation.
ETA: It seems like you are trying to figure out which test is the most accurate & comprehensive. If that is the case, then I believe it is amnio. (not a doctor)
An amnio is not worth the risk (to me) given my age. The cffDNA test is appealing because it does not carry a risk of miscarriage. But if I'm not willing to do an amnio then maybe it's pointless to do the cffDNA test? That's what I'm trying to determine--what I will actually DO with the info from the cffDNA test.
An amnio is not worth the risk (to me) given my age. The cffDNA test is appealing because it does not carry a risk of miscarriage. But if I'm not willing to do an amnio then maybe it's pointless to do the cffDNA test? That's what I'm trying to determine--what I will actually DO with the info from the cffDNA test.
I'm not good with the what would I do if it's positive scenario but I'll give you an alternative.
Based on my age alone my risk for down's was 1 in 400. That's still pretty good odds but now because of the cffDNA I am 99% positive that the baby does not have it.
So I think you should ask yourself if you are comfortable with screening tests at all because that's what it sounds like your grappling with. The accuracy of the cffDNA is much more appealing to me than the ratio of the NT scan.
Is the 1% chance of a false negative better than your random 0.25% chance of Down's in the general population?
I swear I'm not trying to be obtuse or argumentative, and I really do appreciate everyone's input. I definitely prefer more information to less, but I have to think what is the endgame of this test? I guess I will head to campus when we get home from Vegas so I can do some research, because there's really not much on lay websites.
Thanks swank. I left for a girls' trip with my mom and sisters (kind of UGH while sober LOL) the day after my first OB appointment, so h and I haven't really had a chance to talk this out. I think termination may be on the table in certain cases, but we'd certainly like to be able to prepare in any case.