# Downs Tests - can't decide



## zofranks

So my first scan is 12th Dec, we are booked for the Nuchal scan but we haven't actually decided whether or not we should have it done. I am 40 & a bit worried that they will automatically just register me as high risk, when do they do the DS blood test - is that after the scan, my next appt with the mw won't be until I am 16 weeks or more.

Part of me wants to be reassured but part of me is worrying that they will just say I am high risk & we have to spend the next 6 months worrying.

What happened with those that have had the tests?

Thanks


----------



## babytoes

HI... I'm 35, 36 in a couple of weeks. I'm now 18 weeks. Had my 12 week scan in November, where they took measurements and then I was sent straight for blood tests which is normal at my hospital. I was told that if I was high risk I'd hear back within 2-3 days. I finally heard back more than 2 weeks later and was told that I am low risk with a result of 1:9100.
Good luck :thumbup:

By the way... 12th Dec is my birthday and also the date of my 20 week scan! x


----------



## Sunshine12

Im getting my first scan (12 week) on Thursday. Its the NT scan and they do the bloods at the same time. x


----------



## kosh

zofranks said:


> So my first scan is 12th Dec, we are booked for the Nuchal scan but we haven't actually decided whether or not we should have it done. I am 40 & a bit worried that they will automatically just register me as high risk, when do they do the DS blood test - is that after the scan, my next appt with the mw won't be until I am 16 weeks or more.
> 
> Part of me wants to be reassured but part of me is worrying that they will just say I am high risk & we have to spend the next 6 months worrying.
> 
> What happened with those that have had the tests?
> 
> Thanks

you *will not *be high risk just because of your age.


----------



## Gia7777

I am 40 and pregnant with my first. I opted for the NT screen and my age alone put me at around 1 in one hundred something or other for downs and AFTER I had the NT screen my results were like 1 in two thousand something or other (I can't specifically recall off the top of my head). I think since the NT is non-invasive I say go for it - when all was said and done my OB told me I had a 10x more chance of having a miscarriage from an amnio than I would having a Downs baby. You have to do what's best for you and your situation and peace of mind. 

There is SO much emphasis put on the risks for Downs for us older moms that I think a lot of it is just plain alarmist. I was reading on the March of Dimes website just the other day that 1 in eery 160 births result in stillborns but we don't hear half as much of that is we do the downs screening and such.


----------



## Borboleta

When I did the test it came back 1-94 chances for ds baby. I did the amnio and baby is fine:). I am against the blood test from now on. I would do the scan first and see how it goes and them if you are still worried see how you feel about doing the amnio. If I decide to have another baby I will go right for the amnio and definitely skip the blood test.


----------



## PoodleMommy

Borboleta said:


> When I did the test it came back 1-94 chances for ds baby. I did the amnio and baby is fine:). I am against the blood test from now on. I would do the scan first and see how it goes and them if you are still worried see how you feel about doing the amnio. If I decide to have another baby I will go right for the amnio and definitely skip the blood test.

Same here. I am 40 and expecting our first, and I had both the NT scan and bloodwork. NT scan was perfect; but one of my blood levels gave me an overall risk of 1:88 for Downs. Next pregnancy, I will do the NT scan again but not the bloodwork. My high-risk OB said that nuchal thickness + presence of a nose bone at 12 weeks is a far better predictor of Downs than bloodwork, especially over 35. Oh, and I'm not doing amnio!


----------



## SabrinaKat

Hi,

I just turned 44, so was 43 when I conceived -- we did the NT/bloods at 12wks and my risk went from 1/27 age/downs to 1/162 and 1/40 age/other to 1/955 and decided not to do cvs; at 16wk scan, everything seemed fine and we discussed risk of amnio; our ob/gyn who is fetal medicine specialist (we're private in Ireland) agreed that IF anything appeared worrying then we would proceed to amnio, but given the risk of mc, I would have been devastated to lose a healthy baby; at 20wk and 24wk scan, our risk for downs went to 1/300+ and he has a very healthy heart (70% of downs have problems) and other soft markers are clear. Obviously that is not definitive, but I trust my ob/gyn and her expertise...I have heard that the NT and bloods have a 90% reliability rate, but there are of course false positives and false negatives. Ultimately, YOU have to decide whether to do the amnio, but don't let anybody bully you!

I also asked about the high risk categorisation and she said that a first pregnancy is always high-risk, but it has nothing to do with age...so I am 'high-risk', but so far, my pregnancy has been normal, routine, etc. 

best wishes


----------



## Torontogal

I think more information is always better when there is an opportunity to get this info in a risk-free way. I am 36, will be 37 at delivery. I had the NT and bloodwork and my risk came in at 1:1,150 so we decided against amnio at that time. 

If this test had shown our risk to be high we would have done the amnio. The amnio is invasive and not without its risks, so IMO any information that can help you decide whether or not to do it is worthwhile. Of course, this is predicated on the assumption that you would consider amnio at all and take action if the amnio were to turn out positive. If you wouldn't take action on the results maybe there is not point taking the screening test. It's up to you and your baby's father to decide what action you would take if you did have a Downs baby and work backward from there. 

As Sabrinakat said, if you don't go for amnio after the first scan, there is still an opportunity to look for soft markers at your next ultrasound. I am going in for another one at 19 weeks and they told me they will check for soft markers then. This will reassure me if there are none, and give me the opportunity to get an amnio after all if there are any soft markers at that time. 

Good luck whatever you do and all the best


----------



## future_numan

I am 39 and I choose to do no tsting other than the 20 week U/S.
I did it with my last pregnancy and the stress and fear was hard on me.
It is a personal choice and only be one decided between you and your baby's father:hugs:


----------



## christyscott

i was 34, a month from 35, when i conceived. the nuchal came back at 3.9 and my labs were slightly off- cvs confirmed downs. these tests being recommended for those 35 and above are not alarmist- it is very well established that women over this age are at a higher risk of having a downs pregnancy as compared to a female who is in her 20's.

i am 35, will be 36 in a week, and am almost 34 weeks pregnant with what appears to be a healthy girl. i did the nuchal again, and it was normal as were the labs. my calculated risk which included my age, and the fact that i am automatically much higher risk than an equivalent female my age secondary to having had an abnormal pregnancy, was something in the park of 1:2000. i did not elect for invasive testing. i did not feel that the risk of miscarriage was acceptable given my odds. i did undergo a 20 week anatomy scan though to help evaluate my risk further.


----------



## wellyboot

I'm 37, and have just had my scan results back today. They did a nuchal scan, and told me that the measurement was 2.7 mm, and that anything over 3.5 mm would be classed as abnormal. They also took bloods so that they could combine the bloods and the nuchal scan result to give me an overall statistic (they told me that you can have no problems with the nuchal scan but come back high risk from your bloods, and vice versa).

My form came back that my background risk (due to my age etc. I assume) is 1:212, and my adjusted risk (taking scan and bloods into account) is 1:1160.

I agree with what a previous poster said; start with what you would do if the baby did have downs, and work backwards. This is what we've done when coming up to tests, and we've found that it's helped us to make a decision about whether to go for the scan or not.

Good luck with the decision you make.

Welly xx


----------



## Minivan

Hi, 

I am 35, and these will be babies #3 and 4 for us. My dr. told me that because of the fact that I have twins I will most likley be at risk. So we decided that it didn't matter what the tests said anyway, so we decided to go with no testing. For us it was the right choice. I haven't had to stress about it at all. Like others have said in this forum, you have to make the choice that is right for you.

One of the reasons I had done the testing before is that I wanted to see the baby. But I was still able to go for an u/s at the 12week mark for growth and viability. :) That made me happy. 

good luck with your choice!


----------



## April2012

I will be 35 upon delivery with my first baby.

I had an NT scan and blood work done at 12 weeks:

Down syndrome:
Risk based on age alone: 1 in 290
Risk after blood/scan: 1 in 5781

Trisomy 13 & 18
Risk based on age alone 1 in 524
Risk after blood scan: 1 in 10,000

I had an amnio done at 16 weeks. all my results from my amnio are good.

women question why I would risk having an amnio when my risk assessment is so low. For me, I read of enough situations where the risk assessments were not accurate--either false positives or false negatives. Furthermore, my OH and I are of the mindset of considering termination in certain situations.

what would i do next time? I would schedule my NT scan and blood work for as early as possible (10 or 11 weeks). If my results came back high risk (for me that would mean one in 500), i would schedule a CVS immediately (around 12 weeks). That way, if termination became an issue, I would still be in my first trimester. If my results came back very low risk from my NT scan and blood work, I would do an amnio at 16 weeks again.


----------



## Septie

I did a nuchal scan plus cvs in both pregnancies. Regardless of preferences, I would always do a nuchal scan, as that can indicate heart problems (which are more common in Downs kids, but also occur otherwise) - and knowing that can be helpful to schedule detailed heart scans during the pregnancy/post birth treatment.
A friend of a friend, 38, just had a baby w/ Downs that required immediate heart surgery after birth. Nothing suspicious prior to labor. She didn't do invasive testing.


----------



## Eleonora

I hope it is clear from all these experiences posted so far that they ALWAYS give you a statistical answer (like 1:352, not just saying high risk) and they should also tell you the results of the nuchal measurement and blood tests that the risk analysis is based on. If you are lucky they factor in the nasal bone too. Since you know your age by itself makes you high risk for Down's syndrome, it is quite likely that your results will actually decrease your existing high risk yielding a final answer of a moderate or low risk which may be so reassuring (though still just statistical) that you won't even have to weigh the option of invasive testing. It is also great fun to see the fetus at that age jumping around. Reasons not to do it might include if you are sure no matter what you want to carry the pregnancy to term and feel no need to prepare in advance for the eventuality that your child might need extra care, or conversely, there could be people who are fed up with the statistical uncertainties and know they want amniocentesis or cvs.


----------



## Jtiki

I'm 39 and my results came back as 1:1100. I chose not to have the amnio and I stressed about that for a few weeks. Today was my 19 week scan and there were no soft markers indicating problems so I am relived and no longer worried about downs.


----------



## Sunshine12

Can someone tell me what a soft marker is please as I have no clue but keen to know as my results havent arrived yet and I will consider amnio if necessary. Thanks


----------



## sadie

Hi ladies.

Interesting discussion. i'd like to know more about soft markers, too!

Today, my doctor told me that since I am 42 (a high risk age, no matter what), the numbers from my NT wont mean too much whether they're good or bad and suggested that I go straight for an amnio in 4 weeks time.

I am worried about doing an amnio.... 

and am feeling a bit frustrated!


----------



## April2012

Sunshine12 said:


> Can someone tell me what a soft marker is please as I have no clue but keen to know as my results havent arrived yet and I will consider amnio if necessary. Thanks

soft markers as i understand are visible signs (for lack of a better word) on the ultrasound. the NT measurement is one. the nasal bone is another. femur length is another. soft markers are only tools for assessment of risk...not diagnostic in nature. the only way to know for sure is to have a cvs, an amnio or wait until birth.


----------



## MissC13

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.


----------



## sadie

Im sorry to hear about your loss that must have been devastating.

How about the MaterniT21 test rather than an amnio?


----------



## MissC13

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.


----------



## zofranks

thank you to all who have replied. We are going to ahead with the NT tests & see what happens then.


----------



## Primroses

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.


----------



## April2012

Primroses said:


> 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.


----------



## sadie

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!


----------



## Helenita

sadie said:


> 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.


----------



## sadie

Helenita said:


> sadie said:
> 
> 
> 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.Click to expand...


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.


----------



## Helenita

> 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.


----------



## sadie

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




Helenita said:


> 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.Click to expand...


----------



## sadie

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.


----------



## Helenita

sadie said:


> 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.


----------



## sadie

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!


----------



## Primroses

April2012 said:


> Primroses said:
> 
> 
> 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.Click to expand...

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.


----------



## SaucySac38

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!


----------



## ZoeZo

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


----------



## Aidan's Mummy

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


----------



## ZoeZo

Just thought I'd share that my blood test results came back, low 1 in 800 :wohoo:


----------



## newaddition

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.


----------



## UDS

Hello. I just registered so I cost post a reply to this thread. I am 39 and 10 weeks pregnant; unplanned, but my Partner and I are now pretty excited and happy so we are hoping for the best! I have decided to do a combination:

1. Materniti21 Test - blood being drawn next week for this; this is a new test that is supposed to detect Downs with 98% accuracy via just having blood drawn.
2. Sequential Scan - this is a combination of blood drawn and nuchal scan via Ultrasound at 11 weeks.

I should have results for both in time to decide whether or not I would have a CVS to confirm any issues found. I am praying that everything goes well and I can forego invasive testing.


----------

