any abnormal early trimester screening?

Selenamtz08 · May 2015

Had my 12 weeks pregnancy appointment today and, got back my results if baby was OK and, got the news that my test were abnormal now there's a chance my baby could be born with down syndrome I'm so, brokenhearted doctor said not to worry because there have been "false positive" but, I'm still worried I'll be having another appointment on June 2 there's no one with down syndrome in my side of my family or, my husband side but, if it gets to be a positive I'm still having and, loving my baby no matter what would like to hear from you girls if you have gone or, going through something like I'm or, have actually gotten "false positive"??? Praying that my lil one is strong and, healthy!

maura+c · May 2015

I haven't had to go through this, but hopefully several of the ladies can write about this to you. I was just sending my deepest apologies and hope it is a false positive. I know you will love the baby either way. Hope you feel better

Selenamtz08 · May 2015

Thanks I appreciate your words and, yes I'll love my baby either way

shelljok · May 2015

I personally have not gone through this but my aunt had a false positive with her third daughter. In fact her doctor kept questioning on whether she wanted to continue carrying the pregnancy. She continue carrying the baby knowing that if their baby had downs she would love her just the same as her other daughters! The. She was born with no signs of downs. It's crazy but it definitely happens!

anneof2 · May 2015

False positives are quite common. It is a huge reason why I turn down the testing.
The stress would be too much for me.

Knottie36392871 · May 2015

My first trimester screening blood work came back perfect, but my NT scan was on the high end of normal, which put my risk of having a baby with Down syndrome at 1:30. We opted to have a CVS done to give us a definitive answer and found out we're having a healthy baby girl! The waiting is the most difficult part. I hope you get some good news soon. Thinking of you!

jenessaumb · May 2015

I had a "false positive" for down syndrome with my oldest. DS is trisomy 21 and she had trisomy 22 which is Di'George syndrome. Either way she's perfect, and so will be your baby.

lwentland · May 2015

My aunt had a false positive with my cousin. He turned out to be fine and even graduated from Purdue last week with his degree in engineering.

weaverinc · May 2015

I got a 1:20 ratio for Trisomy 18. I was extremely upset for awhile but the way I look at it is that I have a 95% chance that my baby is fine. Try to stay positive (I know it's hard).

vrossolille · May 2015

Okay so I'm confused, what screening did you have done? I to, had false positive with my son who is now 5. He's perfect and had none of the above syndromes. Back than though they did the quad screen blood test which was very very common to have false positives. I was 1000% against having any testing done for this pregnancy. But my dr assured me that the tests have come a long way and that false positives are very rare. Don't get me wrong, they do have glitches as does any test but really they should be accurate. The test I took, I attached the accuracy of it that came in my pamphlet. Do you know what test you had done? Under any circumstance, best of luck & i hope it all turns it good for ya! Like you said you will live tour baby either way.

wedding crazed · May 2015

My SIL got a false positive then went on to have an amnio, which had risks for sure. It turned out that baby was perfect. This is a big reason I for the 4th time this pregnancy turn down all genetic testing. Too much stress, plus I would have and keep the baby anyway so what's the point. And I am under 35 with no genetic concerns on either sides of our family.

Selenamtz08 · May 2015

Thanks I really appreciate all ur comments and, yes I've been reading a lot of "false positive " trying to stay strong but, it's hard I was also thinking not doing the other test because I still want to keep my baby but, then I think that would just be selfish of myself I should do it to see what's wrong with my baby if I don't I know I'll be going crazy then if baby is OK I would just be getting stressed over nothing I read that the older you get there's a higher percentage of baby having down syndrome but, I'm 19 healthy and, my partner is too I just want my baby to be OK the waiting is the most difficult part.

vrossolille · May 2015

@Selenamtz08 do you know the test you had???

Selenamtz08 · May 2015

I thinks it's called prenatal screening it's blood work done in first trimester I got it done at 10weeks I'm 12 weeks now its to check everything is ok with the baby next step is going with another doctor to get a ultrasound to see for other signs of baby having down syndrome

sallyoz75 · May 2015

I think it's way too early for you to get stressed. 10 weeks is very early to do the NT Test and generally they do the scan and blood work within a day or two of each other allowing for the probability to be more accurate. If you know for certain you will keep the baby either way then the risk of the CVS is not worth the final outcome, but if you know that you would chose otherwise then the CVS or Harmony Test are definites before 13-14weeks. Good luck and all the best.

LMJL · May 2015

I agree with Sallyoz75. From what I understand (just went to the genetic counselor today, Ack!) What you had was Part 1 of the sequential screen where they do a Nuchal translucency during an ultrasound (measure the fluid in the back of the babies neck) & take a blood sample, and these results are by no means 100%. If you know you will keep the baby either way & just want to be prepared you should try not to worry continue with the second part of the screening (more blood test) & an amnio at 17 weeks. However, if you aren't sure if you will keep the pregnancy, you should consider the CVS test & get it done somewhere safe & soon. My place will do it up until you are 14 weeks. Wishing you a healthy baby!

willnmeg · May 2015

It's very common to get a false positive I just had genetic testing done as well and the first thing my doctor said is don't be alarmed if it comes back positive that can happen

I wish you the best and pray your baby is perfect and healthy.

Puddlewonderful · May 2015

I just got the call that I'm at increased risk for Down syndrome. Someone my age (27) is supposed to only have a 1 in 800 chance, but my first trimester screening came back at 1 in 280. Still a very small chance, I know, but it's definitely scary. I am getting the Materniti21 test tomorrow to find out for sure (or as sure as we can be without an amnio). On the up side, guess we will find out the sex earlier than expected...but I would gladly wait for that to avoid this stress

I am trying to remember that the statistics are still on my side, but the wait is going to be hard!

herdofcows · May 2015

I had the opposite. I had a false negative. I had the NT scan with odds of 1:10000 for Down Syndrome. When he was born we found out so we did not worry during the pregnancy... Only afterwards. If you want the baby you will love it no matter if the have Ds or not. Try not to worry since false positives are common it seems. Also having a child with Ds is really not that different than having one without.

Selenamtz08 · May 2015

Puddlewonderful I know how ur feeling that's how I'm feeling but, how did they determined that you were at increased of ur baby having down syndrome?

Selenamtz08 · May 2015

Herdofcows how is it going with your baby I've been reading a lot of things to know when having a baby with down syndrome I've read exactly what you said it's like having one without but, I'm just 19 and, I did had a missed carriage so, this would be our second baby I always count our first baby even tho I didn't get to have my baby in my arms

Puddlewonderful · May 2015

It was the blood test they do at the first trimester screening, where they do the finger prick. They said my PAPP-A protein level was lower than it should be. My nuchal translucency ultrasound was perfectly normal, so I'm hoping that the protein is just a fluke. They did say it can be an indicator of ds, but also said it can be totally normal.

herdofcows · May 2015

We were lucky and he was born with no one the associated health issues. He has therapy every week to reach his milestones. He is almost two and just now starting to walk. Other than that he as lots of baby friends, goes to swim class, and play groups. Yes he does not do things the other kids his age do but he will get there. Also you can see if there are any Ds communitys in your area to talk with others. I read a ton after we found out and ended up stopping since it was so depressing.

Kmohney1 · May 2015

So I need to vent on my experience with testing so far. I had an nt scan at 12 wks and had a measurement of 3.6 putting me in the high risk category. I was referred to a specialist but my ob assured me there are lots of false positives and with a terrible ultrasound experience that took over 2 hours, she felt like it could have been a flaw and my decision of non invasive testing moving forward was a good choice. I saw the specialist today and it was awful. Started out great with the counselor who was very helpful in laying out family history and options and said things were most likely hopeful. We did an ultrasound and the tech said everything looked normal and even gave us the sex. Then I met the doctor. He was the most rude, unemotional, judgemental person I've ever met. He made a face when asked if I would do an amnio instead of the blood test. I said I would prefer to do the blood test then I would consider the amnio based on the results. Then he asked me if I would terminate the pregnancy...um, what?! I said I won't even do the testing, why would I even consider termination. He continued on to lecture me and legitimately tried to pressure me into doing the amnio and change my mind on termination. I walked out and sobbed for the next two hours. Sadly my husband couldn't make the appointment and I had to endure that by myself. I hope anyone else who meets with genetics specialists do not have to endure this. Now I'll be stressing and panicking for the next week waiting on my blood test results.

jscasher · May 2015

I have a 1 in 19 chance of baby having Di'George syndrome. I see a specialist someone soon to discuss what tests can or should be done. It's stressful waiting but just focus on the positive!

Selenamtz08 · May 2015

Kmohney1 I really understand how you feel I had to go to this last doctor appointment were they told me the blood work result by myself because husband works in the oil rigs So, it's hard for him to be here it was so, hard the doctor told me and, I started asking a lot of questions then she said don't worry there false positive" sometimes but, how aren't we going to worry its our baby I cried and, have been crying every day then I have to go see a specialist until June 2 it said on the paper I was just going for a ultrasound but, the waiting part is really hard keep on touch on ur blood work results

rachelkawesome · May 2015

vrossolille said:
Okay so I'm confused, what screening did you have done? I to, had false positive with my son who is now 5. He's perfect and had none of the above syndromes. Back than though they did the quad screen blood test which was very very common to have false positives. I was 1000% against having any testing done for this pregnancy. But my dr assured me that the tests have come a long way and that false positives are very rare. Don't get me wrong, they do have glitches as does any test but really they should be accurate. The test I took, I attached the accuracy of it that came in my pamphlet. Do you know what test you had done? Under any circumstance, best of luck & i hope it all turns it good for ya! Like you said you will live tour baby either way.

I popped over from Sept Birth Month and went through this, so hopefully I can explain this a little. First, I think you discussed this and figured it out already, but I believe the OP did the regular NT screening and bloodwork, whereas the Panorama in my experience is the test they do AFTER you get an abnormal result on the NT screening. The Panorama is much more detailed and reliable than the general NT screening.

And, just a note about 'false positives' to the OP and everyone. It's possible to NOT have a 'false positive' on this test, and still have a completely typical baby, because it is only a screener. A screener doesn't diagnose anything, it just says there's a higher chance there could be something abnormal. So, in my case, I was told I had a 1/74 chance of having a baby with Downs, and I was 'high risk' according to the NT result, but I had the additional testing (the MaterniT21 test) and which came back low-risk. But I'm not considered a 'false positive' because the original test was correct in IDing me as a high risk based on the test's criteria. A true 'false positive' situation is when they mess up on testing the bloodwork or something and it comes back as high-risk even though you were not.

I hope that makes sense! I bring it up because when I was googling about the false positive rate, it came up as something like 5%, which might sound disheartening. But in reality, far more than 5% of people that come back high-risk on this test end up having typical babies. I asked my genetic counselor how many there are, and she said far more babies are born typical than not after being high-risk. But she also says she doesn't like to tell people that, because it's all about you and your individual situation, and that's not affected by other people's outcomes.

Good luck OP! Waiting to get answers was one of the toughest times of my life, and I felt so alone. Just know that there are lots of people out there going through the same thing! I'll be thinking about you!

ylifeisgreat · May 2015

Don't panic. Out of five close friends and family members I have, four had false positives. Unfortunately this meant they all suffered heartache and went for unnecessary invasive procedures. All of their babies are healthy today. After learning about this, I choose not to subject myself to screenings like this. Instead I am going for MaterniT21 test which tests my blood and baby's DNA within. Less invasive and more accurate.

Ceridwen77 · May 2015

rachelkawesome said:

vrossolille said:
Okay so I'm confused, what screening did you have done? I to, had false positive with my son who is now 5. He's perfect and had none of the above syndromes. Back than though they did the quad screen blood test which was very very common to have false positives. I was 1000% against having any testing done for this pregnancy. But my dr assured me that the tests have come a long way and that false positives are very rare. Don't get me wrong, they do have glitches as does any test but really they should be accurate. The test I took, I attached the accuracy of it that came in my pamphlet. Do you know what test you had done? Under any circumstance, best of luck & i hope it all turns it good for ya! Like you said you will live tour baby either way.
I popped over from Sept Birth Month and went through this, so hopefully I can explain this a little. First, I think you discussed this and figured it out already, but I believe the OP did the regular NT screening and bloodwork, whereas the Panorama in my experience is the test they do AFTER you get an abnormal result on the NT screening. The Panorama is much more detailed and reliable than the general NT screening.

I had the cell free DNA test (panorama, materniti21) at the same time as my NT scan. My NT scan was normal and I still received the cell free DNA test.

Selenamtz08 · May 2015

The blood work I got done is where they also tell you the gender of the baby that's where they also check if everything is ok with baby and, that's were it came abnormal they haven't done no NT scan what is that?

rachelkawesome · May 2015

The blood work I got done is where they also tell you the gender of the baby that's where they also check if everything is ok with baby and, that's were it came abnormal they haven't done no NT scan what is that?

Ceridwen77 , that's interesting! Maybe you have better insurance than I do!

rachelkawesome · May 2015

Oh, and the blood work I had with the NT scan did not tell you the sex of the baby.

Selenamtz08 · May 2015

I noticed I was bleeding on Sunday I quickly told husband and, we went to the hospital I was bleeding a lot when we got there and, cramps were really bad they did me some blood test everything came back good and, I had a ultrasound done baby looked great had her strong heartbeat and, she was moving around I was so happy when I saw my baby I realized that I was really scared when they told me my baby could have down syndrome but, I got so much more scared by the thought that I could of lost my baby girl thank good everything is good now I'm just on bed rest

newfie69 · May 2015

Hey gUys just chiming in here. We went for our 12 week ultrasound 10 days ago and they saw a high nuchal fold- 4.6. My blood work also indicated a 1/50x The next day we came in for a CVS. Waited 5 long days, got the results last Wednesday and was I firmed for DS. Had a D&C 4 days ago. We are still now waiting fir the further genetic testing to see I either of us are a Translocator carrier or if it was just a random fluke. It took us 4 years to get pregnant in the first place.
Rough 10 days.
But focusing in the future now.
I left this group and joined- Pregnsncy Loss

phyllisnefler · May 2015

@newfie69 I am so sorry to hear this. I hope you can find comfort and community on that forum and I wish you and your family all the best in both the near future and the long term.

jasbaby2 · May 2015

@newfie69 i am very sorry to hear this. I wish you all the best in the future and I'm glad you were able to find the pregnancy loss board.

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