# Downs Syndrome risk 1/17 after quad screening.



## Aries28

I received news earlier this week that our little girl's risk for DS was 1 in 17. Our Trisomy 18 and Neural Tube Defect risk is considered low, but DS risk is high. To be honest, I was in complete shock after hearing the news. I cried a lot. Everything in the pregnancy seems to be progressing great. I am already seeing a high risk Dr due to previous chemical mcs, so I have had so many scans and everything looks great. Our NT measurement was 1.1 and nasal bone present. I guess I didnt realize the impact the blood work would have on our overall risk. Call me ignorant, but I didnt even realize until this week that I was having the quad. I assumed it was all part of first trimester screening. :shrug:. I may have opted out and based on out first trimester screening, the risk would have probably been less. I'm not sure the exact numbers but I know my Hcg + Inhibin levels were high, which increased my risk. 

After meeting with the genetic counselor Wed, my DH and I opted for amniocentisis. This was a VERY hard decision for us. It took us over 2 years to get this far and to risk our baby's life was so upsetting. We will be keeping our child no matter what, but we need to know..either for peace of mind or to prepare for a special needs childs. It is now 4 days past amnio and we are waiting out the results. Talk about causing a Mom anxiety...I pray everything will be ok with our LO. 

Did anyone else have an experience with high risk results due to quad blood screening? I have read about a lot of false positives and wondering if anyone has a similar experience.


----------



## Stressbucket

Last week I was told 1/21 for Down from the quad screen. We're going for amnio tomorrow. 

People talk a lot about 'false positives' from the screening, but that's not exactly what they are. The screen doesn't show a 'positive', just a higher risk, and the overwhelming majority of women who show a higher risk will still have babies who don't actually have the conditions tested for. It's different from getting a 'false positive' on something like an HIV test, where a positive means 'you actually have HIV', and a negative means 'you don't'. The screening isn't as specific as that.

Bear in mind that the bloodwork may increase the calculated risk, but it doesn't actually increase the real risk. This is all just scientific guesswork, but if there's actually a chromosomal abnormality, it's there regardless of what screens are done, or what they say.

That said, the genetic counselor offered us a bunch of other stuff we could be tested for, and I have to say, my response now is basically, "DON'T TELL ME ANYTHING ELSE."

The fact that you've had a lot of scans and the nasal bone's there, and they're not noticing soft marker problems is very positive, as I'm sure you know. It doesn't make the risk or the fear go away, but it does make your odds that much better.

I am so sorry. I'm absolutely gripped by fear right now, and I imagine you're feeling the same. Be very good to yourself as you wait.


----------



## Aries28

Thanks for your response. I am sorry you are dealing with the same stress that we are. If you don't mind my asking, what caused your high risk level? I know what you mean about the false positive thing bc technically it isn't a positive..just high risk. I am trying to remain positive but this is constantly weighing on me. I just want to know my baby is ok. Good luck with your amnio tomorrow. It wasn't bad at all, but be sure to take it easy a few days. I was pretty much on bed rest for two days and my DH was a great nurse. :thumbup:


----------



## daisy72

Hi, sorry that you have to go through this :(. Did your GC also offer you MaterniT21 test? It is considered 99% accurate and not invasive. I opted for it due to my advanced maternal age (the results came back normal). In my clinic they stopped doing quad screen actually, or only do it for women who are too late for the combined screen.


----------



## Marie000

I believe the blood tests measure levels of certain hormones, some of which are usually present in higher quantity in case of chromosomal abnormalities. In my case, I got a high risk of DS (1:10) because the Hcg was higher than normal, I believe. But of course the hormone levels depend a lot on how far along you are in your pregnancy, and probably other factors. In my case, they did not do the NT scan and I did only one blood test (missed the dates for the second one). They also screwed up my due date in their calculations. 
Our scans showed no abnormalities, and the nasal bone was present on the 20 week scan (couldn't see it on the 12 week... baby was showing us her butt instead) 

I did not do the amnio, so I can't tell you how it turned out yet. We will see when my little girl gets here. I think our chances are pretty good, but it does add an extra stress to the birth experience. I know I'll love my daughter no matter what, but I hate having to worry about that. I wish they hadn't given us any results at all. I wish I had never done the test. 

I hope things turn out well for you. Good luck! :hugs:


----------



## Marie131

I was given 1/30 odds of T21 based on my quad results, they bumped that up to 1/15 b/c there were 2 soft markers on our u/s. One of the markers was an IEF but after 2 fetal echos we are assured that our baby's heart is fine. They have dropped our odds back down to 1/30. We opted not to do amnio for our own personal reasons. I figure with a risk of 1/30 or 1/15 it is only a 3-6% chance of our baby having T21; therefore, odds are 94-97% that she is just fine. We will not know for sure after the birth, but I have known many down syndrome people (I used to work in the field) and quite honestly there are a whole lot worse things our baby could have.

:hugs: Big hugs while you wait for your results. I'll bet your wee baby is just fine :)


----------



## Aries28

daisy72 said:


> Hi, sorry that you have to go through this :(. Did your GC also offer you MaterniT21 test? It is considered 99% accurate and not invasive. I opted for it due to my advanced maternal age (the results came back normal). In my clinic they stopped doing quad screen actually, or only do it for women who are too late for the combined screen.

Thank you so much. We did consider the MaterniT21 Test. I asked out GC about it and she said they have done it a few times, but it is still just a screening and can't be as sure with amnio..even if 99% accurate. They were also not sure about insurance coverage, but I wasnt that concerned about the cost to be honest. I was able to get FT screening, so my results are based on the Combined Screen. Just seems the quad threw everything off. I try to remind myself that most women usually only have FT screening. Hoping for the best!



Marie000 said:


> I believe the blood tests measure levels of certain hormones, some of which are usually present in higher quantity in case of chromosomal abnormalities. In my case, I got a high risk of DS (1:10) because the Hcg was higher than normal, I believe. But of course the hormone levels depend a lot on how far along you are in your pregnancy, and probably other factors. In my case, they did not do the NT scan and I did only one blood test (missed the dates for the second one). They also screwed up my due date in their calculations.
> Our scans showed no abnormalities, and the nasal bone was present on the 20 week scan (couldn't see it on the 12 week... baby was showing us her butt instead)
> 
> I did not do the amnio, so I can't tell you how it turned out yet. We will see when my little girl gets here. I think our chances are pretty good, but it does add an extra stress to the birth experience. I know I'll love my daughter no matter what, but I hate having to worry about that. I wish they hadn't given us any results at all. I wish I had never done the test.
> 
> I hope things turn out well for you. Good luck! :hugs:

Thank you. I believe the HCG is what threw our levels off too. If they miscalculated your dates, that can be a huge problem with your blood screen too. Part of me is glad I did the test, but in so many ways I regret it. I feel as if my joy has been stolen and caused me so much anxiety. We will also love our daughter no matter the cicumstances, but you still never wish for anything but the best for your children. I hope things work out for you too hun. I give you a lot of credit for waiting it out. Goodluck!



Marie131 said:


> I was given 1/30 odds of T21 based on my quad results, they bumped that up to 1/15 b/c there were 2 soft markers on our u/s. One of the markers was an IEF but after 2 fetal echos we are assured that our baby's heart is fine. They have dropped our odds back down to 1/30. We opted not to do amnio for our own personal reasons. I figure with a risk of 1/30 or 1/15 it is only a 3-6% chance of our baby having T21; therefore, odds are 94-97% that she is just fine. We will not know for sure after the birth, but I have known many down syndrome people (I used to work in the field) and quite honestly there are a whole lot worse things our baby could have.
> 
> :hugs: Big hugs while you wait for your results. I'll bet your wee baby is just fine :)

Thank you. I appreciate it very much. My odds have fluctuated as well to 1/34 based on all clear ultrasound. So I am between 3-6% which I try to remind myself as well. I agree that in the grand scheme of things, people affected by downs syndrome are wonderful people and many times completely healthy. So you are right that there are worse things that babies can have...possibly life threatening. I hope your little one turns out ok as well...wishing you the best!


----------



## elfin2011

I really feel for you all. I had a 1:15 chance of DS, this was based on the nuchal screen and blood test at 12 weeks, although it was my blood results that pushed my risk that high, as no soft markers were found on the scan. We had a CVS and the results were negative for DS - my little boy was fine (he's now 16 months old), and my result was put down to my blood test results being 'a variant on the norm'.

You are right to put it in % terms, the 1:x odds are just downright scary but the % gives a better perspective I think.

I hope you get your amnio results really soon, I think a lot of it is fear of the unknown, I couldn't bear not knowing either way.

x


----------



## everthingX

Hello hun, I'm really sorry you are going thru this. I came back 1/110 high risk. my HCG was 2.0, my Papp was 0.38 a sign of downs and my age 37 took me over. I could not face Amnio so I take my hat off to you for being v brave big hug. My 12 week scan the fluid was 1.2 which is close to yrs. I've also just had my 20wk scan and I was TERRIFIED! but they found nothing, no markers, no abnormalities. There was a nasal bone and heart and brain were all good. They can't clear me as scans are only screening but it made me feel better. I couldnt face the risk of miscarriage having a missed miscarriage in my first pregnancy . I am also waiting it out until my baby is born in Jan but having all good scans made me feel so much better. The ARC helpline also told me it could be a natural variation in hormone at that time. or placenta but does not explain my high hcg . One min I feel Ok and positive then I go in panic. I'm sure our great scans are a good sign. Fingers crossed for yr results hun. keep us posted will be thinking of you xx


----------



## Stressbucket

We went in for the amnio yesterday. I'm feeling OK. Some pain at the site, but no cramping, no spotting, nothing scary.

We did a very extensive ultrasound beforehand, and all the soft markers look good. We'll get FISH results--amazingly, my insurance was willing to cover it. Then the full karyotype in ten to fourteen days.

I'm praying for a good outcome, and for everyone else going through this. I simply had never imagined how scary this could be.

I had a great ultrasound tech, and the doctor who did the amnio was wonderful. I feel lucky to have had them.

I'm calmer than I was, but still somewhat frightened.


----------



## Aries28

elfin2011 said:


> I really feel for you all. I had a 1:15 chance of DS, this was based on the nuchal screen and blood test at 12 weeks, although it was my blood results that pushed my risk that high, as no soft markers were found on the scan. We had a CVS and the results were negative for DS - my little boy was fine (he's now 16 months old), and my result was put down to my blood test results being 'a variant on the norm'.
> 
> You are right to put it in % terms, the 1:x odds are just downright scary but the % gives a better perspective I think.
> 
> I hope you get your amnio results really soon, I think a lot of it is fear of the unknown, I couldn't bear not knowing either way.
> 
> x

Glad everything turned out good for your little boy. Gives me lots of hope. This past week has been so stressful and I pray everything will be ok with our little girl too. I feel as if I didnt get the amnio I would have made myself more stressed for the rest of my pregnancy, which also isnt good for babe. 



everthingX said:


> Hello hun, I'm really sorry you are going thru this. I came back 1/110 high risk. my HCG was 2.0, my Papp was 0.38 a sign of downs and my age 37 took me over. I could not face Amnio so I take my hat off to you for being v brave big hug. My 12 week scan the fluid was 1.2 which is close to yrs. I've also just had my 20wk scan and I was TERRIFIED! but they found nothing, no markers, no abnormalities. There was a nasal bone and heart and brain were all good. They can't clear me as scans are only screening but it made me feel better. I couldnt face the risk of miscarriage having a missed miscarriage in my first pregnancy . I am also waiting it out until my baby is born in Jan but having all good scans made me feel so much better. The ARC helpline also told me it could be a natural variation in hormone at that time. or placenta but does not explain my high hcg . One min I feel Ok and positive then I go in panic. I'm sure our great scans are a good sign. Fingers crossed for yr results hun. keep us posted will be thinking of you xx

Thank you so much. I think if the odds were a little better I might have waited it out, but because my risk was higher then risk for mc, we decided to do it. Not an easy decision though and I cried more about making the decision I think. I think the ultrasounds, nasal bone, and nt are all good signs, but I have been a bad googler and have also read stories where everything appeared normal and baby still has ds. I know I shouldnt do that thoug and in most cases, there were signs early on. Wishing you and your LO the best and much peace over the months while you wait. 



Stressbucket said:


> We went in for the amnio yesterday. I'm feeling OK. Some pain at the site, but no cramping, no spotting, nothing scary.
> 
> We did a very extensive ultrasound beforehand, and all the soft markers look good. We'll get FISH results--amazingly, my insurance was willing to cover it. Then the full karyotype in ten to fourteen days.
> 
> I'm praying for a good outcome, and for everyone else going through this. I simply had never imagined how scary this could be.
> 
> I had a great ultrasound tech, and the doctor who did the amnio was wonderful. I feel lucky to have had them.
> 
> I'm calmer than I was, but still somewhat frightened.

Glad to hear you're doing well. It is a frightening experience, but I agree...my Dr. Also was wonderful which helped. Great sign that your u/s looked good. :thumbup:. When do you get the FISH results? Part of me wishes we did that. The wait is tough. Keep us posted!!!


----------



## Stressbucket

FISH should be in another day or two.


----------



## Stressbucket

FSH results came in today, and are normal.

(Sits down abruptly and bursts into relieved tears.)

Being as I am in fact a stressbucket, I probably won't entirely relax until the complete karyotype gets to us, but I am doing so very much better.

Thanks to everyone for their support and encouragement, and my deepest prayers for everyone who's going through this.


----------



## Aries28

Great News! TRY to enjoy and not worry about the rest of your pregnancy. It is hard, but such a special time too. :)


----------



## Andypanda6570

:hugs::hugs::hugs::hugs::hugs::hugs: Aww what great news!!
I am so happy for you!! :hugs::hugs:


----------



## daisy72

Congrats!!! Very happy for you!


----------



## Demzy96

Hi im new here, 15 years old and 14 weeks pregnant, I had my NT a few weeks ago and my heart stopped when the sonographer said i had NT of 3.5. 
Coupled with my bloods i have a 1 in 95 chance of a DS baby. I have a detailed scan next week and i know they will offer amnio to me, however i do not wish this as i will love my child whatever.
I have a very supportive family and we are all staying positive. My pregnancy is in Gods hands now, and im grateful for forums like these were you know you are not alone xxxxxx Stay positive xxxxxx


----------



## Demzy96

:baby::baby:


Demzy96 said:


> Hi im new here, 15 years old and 14 weeks pregnant, I had my NT a few weeks ago and my heart stopped when the sonographer said i had NT of 3.5.
> Coupled with my bloods i have a 1 in 95 chance of a DS baby. I have a detailed scan next week and i know they will offer amnio to me, however i do not wish this as i will love my child whatever.
> I have a very supportive family and we are all staying positive. My pregnancy is in Gods hands now, and im grateful for forums like these were you know you are not alone xxxxxx Stay positive xxxxxx


----------



## flashy09

Demzy96 said:


> Hi im new here, 15 years old and 14 weeks pregnant, I had my NT a few weeks ago and my heart stopped when the sonographer said i had NT of 3.5.
> Coupled with my bloods i have a 1 in 95 chance of a DS baby. I have a detailed scan next week and i know they will offer amnio to me, however i do not wish this as i will love my child whatever.
> I have a very supportive family and we are all staying positive. My pregnancy is in Gods hands now, and im grateful for forums like these were you know you are not alone xxxxxx Stay positive xxxxxx

Are you in America? You can have a very accurate blood test that has no risk.


----------



## Stressbucket

Oh hon. This is a lot to handle, and I'm glad you have supportive family. I'm well over twice your age, and this overwhelmed me.

As flashy said, there are noninvasive blood tests available in many places now, completely safe, that will give you more information. See what your doctor can offer, if the amnio is not an option you want to consider.

Be well, and keep us posted on how things go.


----------



## Aries28

Demzy96 said:


> Hi im new here, 15 years old and 14 weeks pregnant, I had my NT a few weeks ago and my heart stopped when the sonographer said i had NT of 3.5.
> Coupled with my bloods i have a 1 in 95 chance of a DS baby. I have a detailed scan next week and i know they will offer amnio to me, however i do not wish this as i will love my child whatever.
> I have a very supportive family and we are all staying positive. My pregnancy is in Gods hands now, and im grateful for forums like these were you know you are not alone xxxxxx Stay positive xxxxxx

Sorry that you dealing with this stress..especially at such a young age. As the others have said they offer a bloodtest called MaterniT21 which may be available. It is non invasive and highly accurate although still only considered a screening. Best of luck to you and your precious baby!


----------



## Aries28

I just got my amnio results back today. Everything is Normal! Definitely cried some happy tears. This has been a very scary and humbling two weeks. I pray for anyone else going through this and wish you the best!


----------



## AmesLouise

Such exciting news! I went through the same thing about one month ago!!! Congratulations!!


----------



## Stressbucket

Aries28 said:


> I just got my amnio results back today. Everything is Normal! Definitely cried some happy tears. This has been a very scary and humbling two weeks. I pray for anyone else going through this and wish you the best!

Thank God. I'm so happy for you and your family.


----------



## everthingX

Thats fantastic news - congrats...time to enjoy yr pregnancy ;0)) xx


----------



## dae114

Hi, first of all, I'm SO sorry you're dealing with this. I just wanted to add my experience. I was given 1/14 odds of DS after quad screen. I'm 25. No other risk factors. I opted out of amnio and did a maternity 21 blood test and had a level II ultrasound done. I was given updated odds of less than 1/10,000 for DS. Basically, the quad screen has a very high rate of false positive screens, at least according to the specialist I saw for my maternity 21 test. TRY not to worry too much - although I know it is so hard. Good luck and most likely everything is just fine! xxx


----------



## dae114

Oh - just saw your update. Great news! Congrats and enjoy the rest of your pg!


----------



## PurpleHaze

I'm glad to hear your amnio results were ok. That must be a big relief!

Does anyone know if this MaterniT21 test is available in the UK, or just in the US?

Thanks.


----------



## Luzelle

So happy for you


----------



## Andypanda6570

PurpleHaze said:


> I'm glad to hear your amnio results were ok. That must be a big relief!
> 
> Does anyone know if this MaterniT21 test is available in the UK, or just in the US?
> 
> Thanks.

I think right now just in the U.S.//Xooo


----------



## RKW

MaterniT21 is available privately in the uk for sure, I'm not sure whether it is on the nhs yet


----------

