Question on First Trimester Screen

So many of you know that my first trimester screen came back with a higher then comfortable chance of Down's Syndrome (1:13).  Being that there were absolutely no physical markers (nasal bone was visible and present, nucheal fold was in normal range), I have been trying to understand what gave me such a high possibility.  They told me it was the ratio between my free HCG and PAPP (I think that's right).  1 number was really high, the other low.  I have opted for amnio to know for certain.  My question is this...I have seen a few other posts about the high false positive during a first trimester screen due to the blood work.  I think these posts may be referring to the same type of testing I had.  Does anyone know if that is the case?  Could my "positive" be a false positive?  I want to make sure I am making the right decision with the amnio.  Thanks for any input, I always appreciate it.

[dainsey]

I've also heard that.  Those tests can be very stressful.  Can you call the place that did the test and ask them more questions?    Did they say when you had to do the amnio?  God I know how stressful this all is for you!  

[PamelaBee]

When I had my screening done with Connor, I had the NT scan and bloodwork combined in the first trimester.  My numbers came out horrible, really high risk for downs, trisomy,etc.  I think now they wait or suggest to do the blood work in the 2nd trimester (or you have the option to wait til your 2nd trimester to have the bloodwork done) to avoid false positives, the bloodwork coupled with your 1st trimester screening, give a more accurate result.  The reason?  I don't know.  But, it looks like you had everything done together with your 1st Trimester screening as I did.  Our ages get us slammed for these poor stats...it's such a joke.  All I can say is, if you can make it to your level II u/s before having an amnio, do so...I guarantee after the u/s you will be assured all is ok.  However, I know your personality my dear, and I know you'll want to know, and will worry sick until you do know.  But, you can also schedule the amnio after your level II, so that option will always be there for you.  The bloodtests S--K!!  Do not worry about the stats...they mean rubish in most cases, at least for us gals 40+!  My perinatologist told me, seeing the nasal bone is huge in detecting a healthy normal baby, along with seeing the chambers of the heart, the brain and the femur measurements.  Once I saw and knew all the anatomy and measurements where there and normal, I relaxed the remainder of my pregnancy.  I hope that helps!  {{big hugs to you}}  Pam

[oceanv]

I understand where you are coming from, but unfortunately have nothing helpful to ad. I had thought I would get an amnio for sure, but when you're actually faced with  getting one things look a little more grey area.

I know that they take your number and you have an automatic risk of say 1:100 (if you're 39) not sure what it would be for 40/41. Then they factor in some numbers from your blood tests and adjust it up or down.  my risk came back "good" for my age 1:225 so I qualified for an amnio if i wanted - we had 24 hrs of indecision, basically gonna do it but then started thinking that if the level 2 ultrasound didn't show any further markes then maybe we should go with that (In bc you have to be 40 to get one otherwise) when they factored in my diabetes it became 1:450 so no longer could get the amnio even if we wanted unless something showed up on the level 2 u/s.  Its a hard call.  If the amnio was no risk it would be a much easier decision.  

Good Luck,
J

[oceanv]

On further reflection though......

It all comes down to a couple of things....

can you stand going your entire pregnancy with the ?? or do you absolutely have to know for sure at the risk of the miscarriage from the amnio....i think its 1:300??? i think if a person 100% knew that they would be acting on the results of the amnio - + downs then they would have to get the amnio. but if they weren't going to act on the results i would have to really question whether i would want to take the risk, especially if getting this far has been a challenge fertility wise.

[prevatt77]

I would have to agree with oceanv....but remember Amanda this is a decision only you and Warren can make.  Me, personally I didn't want to rish anything with the Amino, it took me a long time to get Gavin and when I was pregnant I didn't want to take any chances, none at all.  I knew that I would love him either way just as much (as you will do the same).  My perinatologist told me that seeing the nasal bone was a HUGE plus, I had my level II ultrasound and he told me he didn't see any red flags to have to go with the Amino.  Did you have an AFP test done? (I think that is the name of it) that also tells you a risk for a Downs baby.  You need to do what is best for you and whatever you do decide it will be the right decision for you and Warren and the baby.  I'm sure everything is going to be fine, but I also understand that you're a want to know person.  Do what you feel is right in your heart.  You have come such a long way and the Lord is in control and he will lead you through this.

I wish I could be of more help.  Love Ya and stay strong!
Debbie

[adgal]

I had always said having an amnio would be a really easy decision for me.  The thing is it has nothing to do with whether or no to terminate.  I already know I can't and wouldn't do that, not now, and not after all this.  I do think that waiting would drive me crazy and that is not good either.  Odds for a problem for amnio are 1:200.  That actually changes depending on the clinic.  The one I am going to is highly reputable and very experienced.  It is an early fetal medicine clinic, so amnio is a very large part of what they do daily.  That makes the odds something like 1:1000.  

I didn't realize the rate of false positive with this test.  They told me that the NT alone was only 50% accurate, but bloodwork and nt combined is was 85% accurate (for picking up cases of trisonomy 21, 13 & 18).  They did tell me it was in no way diagnostic, just a screen.  The only way to get a truly diagnostic result is the amnio.  They said the level II was not necessarily accurate as it only picks up physical markers.That is partly what confuses me....don't all ds babies have physical markers?  This is all highly confusing......

[BabyBlue07]

When my blood test came back.. I am in high  risk of DS.  1:108... I am going to be 39 in Oct.. my doctor wanted me to do amnio and i refused.. no need to do that for me unless i am thinking of terminate the pregnancy if DS present...

To make my life easy.. i am not going to have any more blood tests.. amnio test.. ect... I will relax and cherish this pregnancy..

The NT scan came out perfectly normal.. everything of the baby is normal.. just because the age give me in status of High Risk DS.. I am going to have second level u/s in august and will know little more about this...

I am not driving myself crazy about this... I am not thinking about it and I am not worry about it.. What ever happen will happen.  I am looking forward to meet my newborn...

[oceanv]

I think you have to do what you and your hubby are comfortable with. Everyone has such different opinions, comfort levels etc....

I'm a big believer in your body, your pregnancy, your decision, after all you're (we're) the ones who have to live with the decisions that you  (we) make.

[NicMom]

I just went and saw a perinatologist a week ago because we had markers on the ultrasound that they thought might be downs. Anyhow this guy is apparently famous all over the US he is the author for many of the text books that other high risk docs use in med school. Just wanted to give you some backround on this little factoid and where it came from....

He says that 1 in 22 people will test positive on the Quad Screen for Downs. That's why he doesn't recomend even having the screen done. Ultrasound is a better predictor of downs. Since your ultrasound was normal it sounds like things are fine. Good luck!

[whiteSwan72]

I will pray for you and your baby that everything would be ok. The desicion is yours to make, follow your mathernal instincts. Just a thought, on this cycle I asked my RE what chances I have in order for me to get pregnant and she said 15%. But I have the gut feeling that I am ovulating, and am right and finally pregnant. Do whatever you think it's best for you. Your baby will come out beautiful and healthy with all the traits you've ever wanted for a baby.  

[ita17]

That is very true.  & THIS is why I never did any extra tests at all!  I am the type of person who needs to know EVERYTHING!  I am a Dr.'s worst nightmare!  (pain in their booty!)  BUT for whatever reason, when it comes to my unborn child inside of me........I don't care to know it all!  After I'm "out of the woods" for mc'c then I'm DONE w/ tests..no need.  I always figured that IF our bb's were not quite "perfect" then we will except & deal w/it when the time comes.  Pregnancy should be exciting, fun a new adventure & at the same time is stressful because we all worry about our bb's, so for me why put more anxiety & stress.  
I'm telling you ladies, I really like to know the good, bad & the ugly, except for this stuff, cuz NOTHING is 100% for sure.

But w/all this being said, we are each individuals & need to do live w/ourselves, so Amanda you do what your intuition tells you to do, & I hope it brings you the peace that you are looking for :)

[wanting4#1]

Amanda, I go for my NT scan tomorrow (I'll be one day shy of 13 weeks, so I don't know if it counts as first trimester screening or second)....

I tried to do some research on the Internet regarding your situation and my first set of results gave me a lot of clinical/research information that was difficult to wade through. The second set of results wasn't much better, but I was able to find in a number of a websites that there is a 5% false positive rate with these tests. (I think there is a movement to use a better test with less false positives, but can't tell if it's already in use or not)

As everyone has said, it really is a personal decision. I've decided against the amnio (to my DH's mortification) because I just can't do anything that carries a known risk of miscarriage. I'd never forgive myself if something happened and just can't take the chance.  That being said, if my results from the NT come back with me being at high-risk, it is going to make for a very long pregnancy for me and that's the cross I'm going to have to carry!

I'm thinking of you and sending prayers and thoughts your way! Hugs!!

[Helen72]

Many clinics combine your blood work with your age and in those cases you always get a high probability if you are over 40.  If that is the case the result may be driven more by your age than anything else.