Downs Tests - can't decide

Personally I have to say I believe in the testing. I was 26 when I conceived and my NT test came back with higher results. I went to a high risk doctor who looked for the soft markers (no nose bone, shorter limbs, heart defect, etc) of downs. My daughter has no nose bone and a major heart defect. We did the amnio and it came back positive for downs. We lost her at 18 weeks on my birthday. No matter what I will be doing the testing for any future pregnancies if I under or over 35. Hope that helps with the soft markers info.
 
Im sorry to hear about your loss that must have been devastating.

How about the MaterniT21 test rather than an amnio?
 
I wasn't offered the MaterniT21 and don't know much about it. When it came to the amnio for us, we had always said we wouldn't get one but the doctor recommended it since the cardio doctor for the raft defect would want to to know. Our risk for miscarriage were lower with the amnio than te risk for downs after the blood and NT test so we went for it and glad we did.
 
thank you to all who have replied. We are going to ahead with the NT tests & see what happens then.
 
When I was pregnant with my first child (at 43) I had the blood tests and measurements and got the "risknumbers" 1:675 (for DS). Which was considered good for my age and we decided not to do an amnio. Now I'm pregnant again (at age 46, my husband is 40), and if I don't mc in the coming weeks (I'm only in week 7) we've decided do to an amnio. This time I feel I need to be more certain that the baby is healthy, since we would find it an unfair burden to our son if he had both a handicapped sibling and older parents. This is hour way of looking at it. But everyone's different, of course.
 
When I was pregnant with my first child (at 43) I had the blood tests and measurements and got the "risknumbers" 1:675 (for DS). Which was considered good for my age and we decided not to do an amnio. Now I'm pregnant again (at age 46, my husband is 40), and if I don't mc in the coming weeks (I'm only in week 7) we've decided do to an amnio. This time I feel I need to be more certain that the baby is healthy, since we would find it an unfair burden to our son if he had both a handicapped sibling and older parents. This is hour way of looking at it. But everyone's different, of course.

so, are you saying your son was born with ds in spite of the low risk numbers?

sorry...i see what you are saying...you mean if your baby who you are pregnant with is born with ds...it would be unfair to your son already born.
 
I agree, primrose. My doc today convinced me to not even consider the blood test thats available in various places across the us. They apparently falsified data in the past and are not yet fda approved, so why risk it. I have my amnio appt in a few weeks.... good luck to you!
 
I agree, primrose. My doc today convinced me to not even consider the blood test thats available in various places across the us. They apparently falsified data in the past and are not yet fda approved, so why risk it. I have my amnio appt in a few weeks.... good luck to you!

The reason MDs are so hesitant to use it is that they are married to what they have always used and know and because it may cut down on their billings (for those who perform the tests). New diagnostics are replacing a lot of "old" medicine and with change come growing pains. The upside is that medical science is progressing and that for our daughters this test, or a whole genome sequence of the fetus, will be the standard, and not amnio. Good luck to you.
 
I agree, primrose. My doc today convinced me to not even consider the blood test thats available in various places across the us. They apparently falsified data in the past and are not yet fda approved, so why risk it. I have my amnio appt in a few weeks.... good luck to you!

The reason MDs are so hesitant to use it is that they are married to what they have always used and know and because it may cut down on their billings (for those who perform the tests). New diagnostics are replacing a lot of "old" medicine and with change come growing pains. The upside is that medical science is progressing and that for our daughters this test, or a whole genome sequence of the fetus, will be the standard, and not amnio. Good luck to you.


Not necessarily. Sequenom got caught for falsifying data in the not so distant future. He was ready to refer me to a colleague in NJ to have the test, but was strongly against it, due to them not being so trustworthy. Same idea how I wouldnt use a doctor that I couldnt trust. And on top of it all, the fda hasnt approved it yet. I am sure it will be perfected in the future, but atm I do not trust the resukts rate that they are quoting..... If it was so great, doctors woukd of course want to stop the risk of an unnecessary miscarriage, etc.
 
Not necessarily. Sequenom got caught for falsifying data in the not so distant future. He was ready to refer me to a colleague in NJ to have the test, but was strongly against it, due to them not being so trustworthy. Same idea how I wouldnt use a doctor that I couldnt trust. And on top of it all, the fda hasnt approved it yet. I am sure it will be perfected in the future, but atm I do not trust the resukts rate that they are quoting..... If it was so great, doctors woukd of course want to stop the risk of an unnecessary miscarriage, etc.


So, what is the result rate they are quoting that you don't trust? Can you share the data or the source of information where it clearly says that they falsified the results and how they were caught? I have not found anything of that sort online, so I wonder where you got that information from. Is is a valid source? Also, FDA doesn't approve nutritional supplements, but they can be very beneficial for the health (i.e. fish oil, among others), and they do approve pharmacological agents that years later get recalled due to harmful side effects, so why would you trust FDA and would not trust the new test, provided it can only get better and more reliable in the future? The reason doctors don't recommend it at this point is not to force you to do the amnio, but just because they are not informed about it yet on a wide scale. I am sure if they knew about it, they would recommend it to help you avoid the amnio, just like your doctor initially did. Anyway, I am not here to argue with you, just wanted to find out if you have proof that the Sequenomm falsified the results.
 
My doctor knows about the test, has spoken about it on Good Morning America, and wasnt the one that recommended it to me. In fact, no one has. I read about it online, while doing my own search.

Here is one of the articles that discusses thw company, in a variety of ways:
https://www.nytimes.com/2011/10/18/...aises-hopes-and-questions.html?pagewanted=all


Not necessarily. Sequenom got caught for falsifying data in the not so distant future. He was ready to refer me to a colleague in NJ to have the test, but was strongly against it, due to them not being so trustworthy. Same idea how I wouldnt use a doctor that I couldnt trust. And on top of it all, the fda hasnt approved it yet. I am sure it will be perfected in the future, but atm I do not trust the resukts rate that they are quoting..... If it was so great, doctors woukd of course want to stop the risk of an unnecessary miscarriage, etc.


So, what is the result rate they are quoting that you don't trust? Can you share the data or the source of information where it clearly says that they falsified the results and how they were caught? I have not found anything of that sort online, so I wonder where you got that information from. Is is a valid source? Also, FDA doesn't approve nutritional supplements, but they can be very beneficial for the health (i.e. fish oil, among others), and they do approve pharmacological agents that years later get recalled due to harmful side effects, so why would you trust FDA and would not trust the new test, provided it can only get better and more reliable in the future? The reason doctors don't recommend it at this point is not to force you to do the amnio, but just because they are not informed about it yet on a wide scale. I am sure if they knew about it, they would recommend it to help you avoid the amnio, just like your doctor initially did. Anyway, I am not here to argue with you, just wanted to find out if you have proof that the Sequenomm falsified the results.
 
It also doesnt test nearly as extensively as an amnio. yes, trisomy 21 and only barely 18 and maybe 13? Anyway, it is all a personalmdecision for each and every one of us and we make decisions what we feel comfortable with. No one is either right or wrong in this case, its just personal opinion.
 
It also doesnt test nearly as extensively as an amnio. yes, trisomy 21 and only barely 18 and maybe 13? Anyway, it is all a personalmdecision for each and every one of us and we make decisions what we feel comfortable with. No one is either right or wrong in this case, its just personal opinion.

You are right, it is a personal decision, that's why I said I was not here to argue with you about whether it was right or wrong. However, in this particular case with MaterniT21, I believe, it is also important to consider how you arrive at making that decision, i.e. what information you use to help yourself. I read the article you referenced and, honestly, I did not see anything alarming about the test in it, except that it implies the possible rise in potential ethical concerns with regards to future of Down syndrome children.

First of all, the problem with company's falsifying the data is in the past 2009 research and has nothing to do with the current test. Moreover, given that past problem, they would not risk having it again, thus making this test free of such issue and therefore more reliable. Second of all, another company Verinata Health, is getting ready to introduce a similar test in 2012, which is based on their research that dates back to 2008. So, this is another independent company doing the same research, which doesn't make it an isolated event by Sequenom, but rather may be indicative of a new trend in genetic testing which will be the standard tomorrow. Thirdly, because of a very low false-positive rate of the test (0.2% vs. existing screening test rate of 5%), women who test negative on MaterniT21 may comfortably skip the invasive procedure. If they test positive, they can still undergo it, but they will have one extra non-invasive step in between, which gives them another chance to skip amnio or CVS. Finally, the reason FDA has not approved this test yet, is not because of the test itself, but because they have not regulated tests offered by a single lab in general, but they said they might start doing so from now on.

Taking a sample of a brand new drug that was just marketed may cause more damage than the risk-free blood test, but patients do it all the time when their doctor offers them a free sample of a new drug that the pharmaceutical company is promoting. They don't know that most of the time the company has only researched the drug for 6-8 weeks on a limited number of patients prior to publishing their data. According to the FDA rules, you only need two positive studies to be able to publish the data, and it doesn't matter if you had 5 or more negative studies, it will still get published and approved, but the negative studies will not even be mentioned. At least with MaterniT21 they had a large sample size and their results were confirmed by the amnio which is considered the best diagnostic test today.
 
Great summary.
afm, i just dont trust the data nor the company. And yes, many many companies are working on ways to analyze the mother's blood so as to avoid invasive procedures! Medicine is a great thing!
 
When I was pregnant with my first child (at 43) I had the blood tests and measurements and got the "risknumbers" 1:675 (for DS). Which was considered good for my age and we decided not to do an amnio. Now I'm pregnant again (at age 46, my husband is 40), and if I don't mc in the coming weeks (I'm only in week 7) we've decided do to an amnio. This time I feel I need to be more certain that the baby is healthy, since we would find it an unfair burden to our son if he had both a handicapped sibling and older parents. This is hour way of looking at it. But everyone's different, of course.

so, are you saying your son was born with ds in spite of the low risk numbers?

sorry...i see what you are saying...you mean if your baby who you are pregnant with is born with ds...it would be unfair to your son already born.

No, sorry - perhaps I wasn't too clear there. My son was born healthy. But we will now (when I'm pregnant again) go straight for the amnio, should the pregnancy last (I'm having my first scan this coming Friday, and will then know if there's a heartbeat). We would do this since we wouldn't want our son to carry the burden of having older parents and a handicapped sibling.
 
This is a very interesting thread and has allowed me to add some questions to my list for the midwife we are interviewing. We are pretty much set against amnio but I am curious about MaterniTI21. Off to do some research!
 
I made the decision after much thought to have the screening (I'm 35) only to have my scan yesterday to find I'm 14 weeks and baby was in the wrong position to measure anyway! Will have the blood test instead
 
Hi hun I'm not over 35 but they tested me too :) I had it done just to be reassured and I was low risk. I would have it done hun they just measure the backof babies neck and then take your blood. They said if I don't hear within a few days then it means I have come back low risk. I'm sure you will be just fine :hugs: x
 
Just thought I'd share that my blood test results came back, low 1 in 800 :wohoo:
 
I tortured myself over the decision of whether or not to have Amnio. I am 40 and that was reason enough to put me in a panic. I cancelled two amnios because I was so undecided. My bloods came back 1-3100. Great numbers but I still worried... The number 40 loomed like an automatic curse. I skipped the first Amnio appt based on bloods and decided I would have the level 2 scan, if that was all fine, it would be enough to calm my nerves and not do an Amnio. The ultrasound was great, not one concern was brought to my attention....everything appears normal, this increased my odds to 1-6200. Still age haunted me, so I went to speak with a genetic dr, we had a great discussion and I ended up canceling the second Amnio appt. To reassure me further ( as I've had 4 miscarriages, she offered me a karotyping blood test) I will receive those results in a few more days. If that is fine I think I can relax a little and trust in the numbers (I hope).

What put it in to perspective for me was knowing my odds were greater for not having an unhealthy baby than they were for possibly miscarrying from Amnio. Also, there are never any guarantees, something could happen at birth to a perfectly healthy baby which could end up causing life long issues, I just need to find faith that my baby is going to be fine and that god doesn't give you more than you can handle. The worry has been ruining my pregnancy but I'm working on letting it go.
 

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