NEED HELP - Prenatal Screening, 1st was Neg but 2nd is Pos

[wantinglilones]

Ladies I need your help.
I'm 29 and am 18 weeks along with twin girls. We just got the results back from our 2nd prenatal screening and have been told to get an amniocentesis. I'm really scared - actually cried several times yesterday which is so unlike me. Our first test result was "negative" and the doctors were happy with the results now i'm being told my 2nd test is "positive" and that I need an amnio to determine if either baby has Downs.

Has anyone else been in this situation? If so, what did you do? I am really torn as to what this all means and am concerned about the accuracy of such tests on twins. Am I getting all worked up over nothing? I don't want to do the amnio but am scared as to what is going on with my babies.

There are several Nuchal Scan posts on this board over the past year but none that address this issue of contradictory test results. I'm hoping someone else out there can help...

Praying for support,
Lisa

[2ndtimer]

Hi Lisa,
Hang in there. My sister's last pregnancy the nuchal test came back that the baby almost positively would have down's & also very likely have heart defect. They did a CVS right then and she had to wait 2 weeks for results. The results were inconclusive, so then they pretty much had to wait until the baby was about 6 months. Well now she has a healthy & normal 1 year old. Tests arent always right.
2ndtimer

[deepa100]

Hi waitinglilones,
Oh lord, it must be hard for you. I always hated the 2 week waits . But until the final results come in, nothing is conclusive. So, try to do something to keep your mind off of it. Just remember, there is no use thinking about things you don't have any control over at this point.

I did not do amnio but tortured myself over whether to do it or not for a few weeks. It is never an easy decision!

[woodcliff]

Lisa, which part was not good--the Ultrasound measuring of the nuchal fold, or the blood test?
Blood tests for this, particularly with twins, are notorious for their inaccuracies...talk to your OB. Your age would not indicate downs.
That said, if the nuchal fold/sonogram portion was not good, that's something to consider seriously...

Why the resistance to an amnio? If it'll ease your mind, in the long run it's a good idea.
Good luck

[wantinglilones]

Thanks 2ndtimer and Deepa100.

Right now I am away from home due to work and trying to keep my mind off of this situation (not easy).

Next week we have an appointment with a genetic counselor who will explain what the test results mean (hopefully better than my doctor did) and then we'll have an u/s. We can also have the amnio done the same day but I really want more info and a better understanding of the risks and possiblilty of one or both of the twins having Downs before we make the decision to do an amnio. Right now I am not in favor of it...if either has Downs there is nothing we can do to change it.

I'm curious to know...
How common is it for this test to show false positives?
Can you have the 2nd screening/blood test done again to confirm?
Anyone out there actually have a child with Downs? Did you know before hand and if not was it evident at birth?

Lisa

[wantinglilones]

Thanks for the support Woodcliff!
The first b/t and ultrasound were great -- both babies necks measured "long and thin" as the technician put it and my bloodwork was fine.

I have to assume its the results of the 2nd b/t that have caused this "positive" result putting me in a high risk category.

If i remember correctly, my doctor said that a risk of 1:250 was the cutoff used to recommend an amnio and all of sudden I am at 1:120. Not sure why my risk was after the first screening.

My OB was pretty nonchalant about the whole thing - just gave me the order slip to get genetic counseling and an amnio. At first I was surprised but not alarmed however as the day worn on I started to getting really scared and upset.

I've called the office and explained that I am worried and want more info. Waiting to hear back from them...

I want another u/s before deciding to do an amnio or not as I don't want to make the decision based on just the bloodwork.

Not sure what is bothering me about the amnio...

Oh and did I mention that the lab has another patient of my doctors and we share the same name and similar birthdays. Already some of her paperwork has ended up in my chart -- its unlikely but i have to wonder if someone mixed our screening results...

[woodcliff]

Oh, you are so on it! It COULD be the other woman's test results...

I hear you re: the amnio...fortunately I didn't have to have one...but that needle would bug me...plus, with twins, I'd think the miscarriage rate would be twice as high? Don't know...don't want to scare you even more...but something to ask your OB about, and get ALL of the info you can on the amnio doc's track record, ie: how many he/she does a year, miscarriage rates per year for that doc, etc...

Why did you have two tests done? Something doesn't fit here...I only had one blood test...if your first one was fine, it does not make sense that they did another, unless you and your husband are in a genetic/high risk category for some disease...
GOOD LUCK

[wantinglilones]

thanks for reminding me to research the amnio doc (if we go that route) - i don't want just some technician poking me with that needle.
i have certainly had enough "pokes" just trying to get this far so what's another two, right? but theses are invasive so i'll do a ton of research before going down that path.

i have to wonder about that other person even if the chances are small that our info got mixed up...

the 2nd b/t is part of the "sequentialscreen" by Genzyme. During your first trimester they do an u/s and blood work. if you come back as "positive" at this stage they recommend doing an amnio. if you come back as "negative" then you just return during your 2nd trimester for another b/t that together with the first screen will help them determine your risk of carrying a child with chromosomal abnormalities. if you are low risk then enjoy your pregnancy, if you are considered higher risk they recommend genetic counseling and diagnostic testing wtih the amnio.

so my 1st screen was good but all of sudden i am at risk after my 2nd screen. i am so confused as i don't know what changed.

i've heard/read that the 2nd screen has a higher rate of false positives and if that's the case i don't want to subject the twins to an amnio if its not necessary.

[Dagny]

Hi Wantinglilones

I really don't want to throw a spanner in the works here but I can't let this go without saying my bit if you see what I mean - I am giving you the objective and worst case scenario and I am sorry if this makes your decision worse.

In 2003 I was pregnant with my 1st DD. I had the nuchal scan at 11 weeks which came back 1:700 (I was 36 at the time) and all was well. I went back for a 23 week anomoly scan and my DD was diagnosed with a rare and severe heart defect. We were referred to a London hospital (Kings Collage) and was scanned for 2 whole days for them to make a proper decision on what was best for my DD. We were advised to have an amnio as they were worried my DD had a chromosonal problem (De George syndrome). It would be devastating to have a baby with De George and with a heart defect.

I was always totally against amnios and now was being almose forced into making that decision which was awful. In the end we did the amnio under much duress and went home to wait for the results. We were told that the 1 in 100 chance of miscarriage had gone to 1 in 500 as the amnio went well. We were pleased at this news.

3 days later at 24 weeks I went into labour with an infection in the womb and my DD was born and sadly died in my arms.

We are the 1% that has the miscarriage! It can and does happen.

The ironic thing is that just before her funeral the results came back NEGATIVE! It was for nothing and my DD died - yes she would still have had a heart defect but it was operable. I would never encourage anyone to have an amnio and I just wanted to give you the other side of the coin to look at.

I am so sorry if this has upset you or made things worse but I just couldn't let this go - I hope you understand. In all my subsequent pregnancies we didn't even have a nuchal scan. I couldn't bear the stress...

Good luck in what ever you decide and hope it is the results of that other patient - but having said that 'she' will be having to make an awful decision if it is her...

Regards Dagny x

[woodcliff]

What a HEARTBREAKING story.. so so sorry you had to go through that...oh. awful. awful.
My OB doesn't do CVS (the first trimester test similar to an amnio) due to high miscarriage rates, but he does do amnios.

To: Wantinglil ones...
one Q: We had two diff. level II 'scans' because I was out of the country...I think you could do one soon. Can you ask?

My first was at 18 weeks, 5 days...it was MUCH better than the 20 week, 4 day one I had here in the states (due to a RESIDENT not a REAL Radiologist...sometimes with twins, I've felt screwed on the sonograms cuz I seem to always get the B team...twins take longer and it's all about the $$$ for radiologists! Greedy B*stards).

Anyhow (sorry, ahem, I digressed), maybe you can ask for the level II for this week/by Monday? The level II shows a lot...re: if it is down's, that would come up...
Was the test the alphafetaprotein, or something like that?
Yes, ask more Qs from the doctor...or the genetic counselor.
I agree, so many pokes just to get to this point...

I am so, so sorry you have such a worry...after all the IVF stuff, you should have an easier ride...
GOOD LUCK AND LET US KNOW WHAT HAPPENS

[beachbaby]

Hi,
I have just had my nuchal scan and will not get my blood work results until Monday. The nuchal measurements were excellent. On another note even if i come back at high risk i will not have an amnio, i have had the tests so i am more prepared for the risk of having a downs baby if the test were to come back positive. Also my clinic only retest if you get a positive first result, and you are then tested at 14 weeks, 16 at the maximum.
I hope you manage to find out what has happened, but the biggest question you have is if one of the babies came back positive for downs would you abort the baby, If the answer is no, then there is no point in having the risk of the amnio. My Dr asked me this question when i said i wanted the test, and i said i would not have an amnio so she said don't do the test as its inconclusive.
good luck.

[Angie65]

Hi Wantinglilones, My dr said only if the result came back 1 in 200 chance of DS would he recommend the amnio as there is the same risk for miscarriage. (luckily my numbers were good so I didn't have to consider it) I think you said yours was 1 in 250 so on his recommendation you wouldn't have the amnio.

Jayne makes a good point -if you know the answer to whether or not you would terminate the pregnancy, that may help you decide.

Good luck with the counsellor - take full advantage of the service too - I've seen a specialist fertility counsellor throughout the whole IVF journey and she has been wonderful.

Wishing you lots of luck.

[deepa100]

What a HEARTBREAKING story.. so so sorry you had to go through that...oh. awful. awful.
My OB doesn't do CVS (the first trimester test similar to an amnio) due to high miscarriage rates, but he does do amnios.

To: Wantinglil ones...
one Q: We had two diff. level II 'scans' because I was out of the country...I think you could do one soon. Can you ask?

My first was at 18 weeks, 5 days...it was MUCH better than the 20 week, 4 day one I had here in the states (due to a RESIDENT not a REAL Radiologist...sometimes with twins, I've felt screwed on the sonograms cuz I seem to always get the B team...twins take longer and it's all about the $$$ for radiologists! Greedy B*stards).

Anyhow (sorry, ahem, I digressed), maybe you can ask for the level II for this week/by Monday? The level II shows a lot...re: if it is down's, that would come up...
Was the test the alphafetaprotein, or something like that?
Yes, ask more Qs from the doctor...or the genetic counselor.
I agree, so many pokes just to get to this point...

I am so, so sorry you have such a worry...after all the IVF stuff, you should have an easier ride...
GOOD LUCK AND LET US KNOW WHAT HAPPENS

Dagny,
I am so sorry for your loss. I can precisely understand your email as I had thought so much about the amnio and just did not have the heart to do it! My genetic counselor said that sometimes women come in for amnio and freek out from the needle tray and refuse to let the doctor proceed! Anyway, nothing can compare to what you have gone through! Looks like you have had success with IVF since then, may god bless you and your family!

[sharishu]

Dagny-

Wow, I'm so sorry for your losses. You have been through a lot! Congratulations on the birth of your precious miracle. Just wanted to say that your message regarding amnios is a real eye opener. As you, I was NEVER in favor. I know because of my age, it may be recommended to me at some point. I don't care though. The way I see it, there is more of a chance that everything is fine than not. I try to maintain a PMA, and expect all good things to come my way.

You seem like quite a strong woman. Thank you again for sharing your story with us.

Shari

[Babyb]

I actually have some experience in this department (unfortunately). The good news, however, is that the test results produced a false positive. The sad news is that I lost my daughter at 13 weeks in any event due to a very rare genetic disorder that wasn't picked up (actually, it is very difficult to detect as it is a mitochondrial disorder). In any event, back the point:

I did quite a bit of research when I was told that my blood tests (first screen) showed classic signs of DS for my little girl. The NT was normal, but our odds were 1 and 10 for downs. I was a wreck. IN all of my research, the reports consistently said you don't want to rely on the 2nd test because if increases the chances of a false positive. In other words, if you are negative on the first screen, most Drs. don't even recommend you test for downs on the 2nd screen.

Now that you have screened positive (bear in mind, because this is the 2nd test, there is certainly a chance of a false positive), you have the amnio to deal with. I too was nervous, but it was actually quite easy. You have twins so the risk of complications is slightly higher, but the risks are still pretty low. Just make sure that you don't move for several days after the amnio. I was overly cautious after the amnio -- didn't get out of bed for 4 days. All went well and the Drs. told me that my baby girl was free of downs.

I know it is much easier to say be calm. I was a complete wreck, couldn't work and kept focusing on internet research (which will freak you out even more). BUT, given that mine was a false positive at the FIRST SCREEN, which is more accurate, I'd keep my chin up if I were you. The drs. are probably just trying to be overly cautious.

Best of luck. I'll be thinking about you and your twins.

By the way, I'm pregnant with twin boys right now. I was really hoping for a little girl after losing my daughter, but I'm nonetheless thankful I'm able to rebuild my family. I'm no spring chicken, but we will try again for our little girl after this round.