2nd Trimester

Positive result after 2nd trimester screening :(

Background info: I am 29, this is my first child...

I skipped the 11-14 week testing.  After speaking with my husband, we decided to do the 2nd trimester (blood test only, usually done about 16 weeks I believe)...  My Dr. scheduled me to come in for the blood test at 15 weeks.  I got the call yesterday saying the blood test came back positive with a 1 in 137 chance it could be DS.  After a stressful evening, crying, trying to (unsuccessfully) schedule an appointment with a specialist who is on vacation... I finally got a kind call from a Dr. in the same office as the specialist.   They let me know that my Dr. should not have done the test before 16 weeks and that we should do it again.  She went as far as saying she wants me to do the blood test again now that I'm over 16 weeks and bets it comes back negative.

 Has anyone experienced anything like this?  I've read there are a lot of false positives out there, but I am a realistic person.  I just want the truth, ya know?

 

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Re: Positive result after 2nd trimester screening :(

  • I think you should inquire about an ultrasound to see if you get any kind of confirmation, if not I dont think you should stress.  Thats still really high!  Try to remain positive.  A lot of times these things come out positive and the baby comes out fine.  Good luck, positive vibes your way
  • I've never had this personally happen but the blood screen quite often provides false positives. And she's right...the test should be done between 16-22 weeks, no earlier.  I've personally known 2 people that received even higher odds than that...one for DS and one for T18. Both opted for the amnio and both babies were fine.Try not to put the cart before the horse and try to think positive. Hang in there!
  • I know someone who had positive markers for T18 at the first trimester scan.  Later testing turned out to be nothing at all.  She has a perfectly healthy baby.  I'd go to the specialist when you can but take some comfort in what she said about a good possibility of a neg result. 

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  • Well, the test is just statistics.  It is not diagnostic. It sounds like it was not done in the recommended manner which I would think could skew results. I would follow the specialist's recommendation to repeat the test. You are also going for your anatomy scan soon, which will look for visual markers of downs. I would then decide what next after the new blood results come in and the u/s results.  
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  • I got what they called a false positive (basically same ish you're going through) around the same time.  Went in for my big U/S last week and no issues whatsoever. My incidence rating was only a little below yours and everything was 100% great and went to 1 in 450 or something like that.  I know it's WAY easier said than done but please try not to worry. The likelihood that something is wrong with an incident rating of 137 is still extremely low - I'm certain everything will be just fine with LO! :)
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  • I am really hoping that I am in the same boat as you. I opted out of the NT scan which I now regret and had the quad screening done at 15w2d according to LMP. I think I might have been even earlier based on my first ultra sound and when I ovulated. I got my test results back with a 1 in 82 chance of downs. After during further research I think my test was done to early which I am hoping will make this a false positive.

    I immediatly went in for a level 2 ultra sound with a specialist and he found that there were no markers for downs and that my little girl looks perfect. If I were you I would listen to the specialist and get retested and also see if you can get a level 2 ultra sound. After my ultra sound they changed my odds to 1 in 240 (less than half a percent chance). My DH & I decided that we were going to enjoy the rest of this pregnancy and not do any further testing, but it will definetly be in the back of my mind until I have this little girl in my arms. Good luck and I hope that everything turns out perfect with your LO!

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  • I had the same thing happen and when we redid  the test the results came back negative.  I would not worry until after the 2nd blood work.
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  • A positive just means that you are at higher risk, it does not mean that your baby actually has a problem. However, you may want to consider doing amnio or some further testing to get more definitive results.

    I wish you the best of luck!


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  • Thanks everyone- your positive words and similar stories really help, as always.

    I am definitely going to do a second round of blood work.  I really want a level 2 u/s, but I am not scheduled for one at the specialist. I might ask again, although they said they don't recommend it before 18 weeks.

     I have had a few issues now with my OB and am considering switching.  What a hassle mid-pregnancy, but may be the right thing for me.

     

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  • image laurahastings:

    Thanks everyone- your positive words and similar stories really help, as always.

    I am definitely going to do a second round of blood work.  I really want a level 2 u/s, but I am not scheduled for one at the specialist. I might ask again, although they said they don't recommend it before 18 weeks.

     I have had a few issues now with my OB and am considering switching.  What a hassle mid-pregnancy, but may be the right thing for me.

     

    I'd ask again about the Level 2 u/s - I just got my results back yesterday (1 in 110, so also an elevated risk) and my OB pushed to get the level 2 ASAP to get a better idea since I don't want to do an amnio.  My appt is scheduled for next Tuesday and I will barely be 17 weeks.

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  • My second set of blood results came back 1:500. All my ultrasound were fine and nothing found. My doctor and gen counselor said that they do believe that baby is fine, but ultrasound cant pick up any issues w/the chromosomes and since my numbers are very very low for my age, explained to me the risk and that there is a chance but there is also a chance that the baby is normal. I could not go on for the next 4 months wondering, with my thinking if he does have a DS at least we'll educate ourselves and find the right care. Just the thought of explaining to my 2.5 year old in a year made me cry and cry. I've decided to do amnio last Thurs (asked for FISH results) and all came back negative on Monday. Very very thankful. I hope in your case its just a very early blood work and the numbers will change. Good luck and keep us posted!
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  • I had a very similar thing happen to me.  I had the first tri testing and it came back negative.  There is a new NP in the practice I go to and she "accidentally" ordered a second DS screen (if the first one is fine, apparently you aren't supposed to get the 2nd one) but low and behold, my 2nd tri test came back positive at 1/197 (My first tri was 1/2000).  I was very upset and stressed out.  My husband is a self proclaimed "numbers guy" and he tried to reassure me that a 1/197 chance is still a very very small chance...and for you, a 1/137 is only 0.7% chance.  I know that probably doesn't help much...I know it didn't for me.  But my Doc immediately scheduled genetic counseling and a Level II US which, if it comes back normal, decreases your chance by another 50%.  Fortunately, mine came back fine (I was so relieved that I cried as soon as we got in the elevator.  The Dr. who did the US told us that having a normal US decreases the risk quite a bit, but the only way to get a real definitive answer is an amniocentisis.  The risk of MC with amnio is about 2-3% (according to the MD) so the risk of something going wrong during the amnio was higher than the risk of our baby having DS, so we opted to forego the amnio.  In all reality, your baby is most likey perfectly fine.  I know how scary it is, but those tests do have a lot of false positives, especially if it was done too early.  If you can't get in for the US right away, I would follow your Docs advice and redo the blood test.  I know its hard, but try to relax.  You don't want any more stress than you need.  Good luck and I hope everything works out for you!:-)
  • I am also 29 and had this two part test done. My first blood test results were 1 in 135. Of course I freaked out and was so stressed to the point I was balling on the phone with the doctor. I had the second part of the blood test done and my results were 1 in 560 and the test was negative. If I had this to do all over again I would have never had the test done as it caused me too much stress for something I have no control over. I am having a positive attitude and giving myself the reassurance that the test was negative. I hate that there are so many false positives. We know three people who have positive tests and their children were born perfectly healthy. Good luck and my thoughts are with you as I know how stressful this is and its hard not to worry.
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  • image janelC:
    I had a very similar thing happen to me.  I had the first tri testing and it came back negative.  There is a new NP in the practice I go to and she "accidentally" ordered a second DS screen (if the first one is fine, apparently you aren't supposed to get the 2nd one) but low and behold, my 2nd tri test came back positive at 1/197 (My first tri was 1/2000).  I was very upset and stressed out.  My husband is a self proclaimed "numbers guy" and he tried to reassure me that a 1/197 chance is still a very very small chance...and for you, a 1/137 is only 0.7% chance.  I know that probably doesn't help much...I know it didn't for me.  But my Doc immediately scheduled genetic counseling and a Level II US which, if it comes back normal, decreases your chance by another 50%.  Fortunately, mine came back fine (I was so relieved that I cried as soon as we got in the elevator.  The Dr. who did the US told us that having a normal US decreases the risk quite a bit, but the only way to get a real definitive answer is an amniocentisis.  The risk of MC with amnio is about 2-3% (according to the MD) so the risk of something going wrong during the amnio was higher than the risk of our baby having DS, so we opted to forego the amnio.  In all reality, your baby is most likey perfectly fine.  I know how scary it is, but those tests do have a lot of false positives, especially if it was done too early.  If you can't get in for the US right away, I would follow your Docs advice and redo the blood test.  I know its hard, but try to relax.  You don't want any more stress than you need.  Good luck and I hope everything works out for you!:-)

    Since you did the NT, the results you got from that test (1:2000) trump the quad test results, which is not as accurate, according to the peri I see.  Just fyi.

  • Like the others said, it very well could be a "false positive".  I'd definitely go see a specialist and for their opinion and a level II u/s.  I know the lab that my OB uses says that the quad screen is done between 15 and 21w6d, but maybe the lab your OB uses is different.  I understand your anxiety and I will keep you in my thoughts.  Hopefully you will have some great news after seeing a MFM/Peri.
  • image julygal:
    Well, the test is just statistics.  It is not diagnostic. It sounds like it was not done in the recommended manner which I would think could skew results. I would follow the specialist's recommendation to repeat the test. You are also going for your anatomy scan soon, which will look for visual markers of downs. I would then decide what next after the new blood results come in and the u/s results.  

    This.  Also a 1 in 167 chance is less than 1%, meaning you have a very slight change that your kid will have Down's.  

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  • See, I'm already a HUGE worry wart as it is which is exactly why my husband and I decided to opt out of the testing. There's nothing we can do about it anyways if it came back positive so what was the sense in knowing? We're very "we'll cross that bridge when we get to it" type of people, which is both good and bad, lol

    I wish you the best of luck and will keep you and your family in my thoughts. From what I've read there seem to be a lot of false positives out there so I'm sure it's nothing to worry about.

    Oh, and finding a new OB sounds like a good idea. It may be a PITA but it would be totally worth it. You need to feel comfortable and trusting and like your doctor. I think that's so important.

    Keep us posted!

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  • image COMomma81:
    I've never had this personally happen but the blood screen quite often provides false positives. And she's right...the test should be done between 16-22 weeks, no earlier.  I've personally known 2 people that received even higher odds than that...one for DS and one for T18. Both opted for the amnio and both babies were fine.Try not to put the cart before the horse and try to think positive. Hang in there!

    I've heard of a lot of false positives, too...we aren't doing any screenings particularly for this reason. 

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  • Yes there are a ton of false positive results for testing! Even with any other type of test out there from Hepatitis to Influenza, etc........I am a nurse and deal with tons of false positive test reasults for all types of illnesses.

    I too had a postive 1st trim. screen. I had the testing done because I was concerned about the baby because I didn't realize I had been prego for over a month and had been taking some kidney medication that is a Category C for pregnancy. So this was one of the tests I wished to have to cover all my bases.  Mine was positive for Trisomy 13/18 which is worse than DS Trisomy 21. I was devistated. In the middle of being at work and my friends consoling me about this result after I had told my husband, he called back again and said that his mother was having a heartattack! OMG I fell to pieces. As if just finding out my baby may have some serious health complications wasn't bad enough!

    Anyways, the genetic counselor recommended that we have a CVS(chorionic villi sampling). Similar to amnio except this test is extracting placental tissue and not the amniotic fluid. The CVS is 99% accurate whether your child truely has DS or Trisomy 13/18. We went ahead with the testing and also had extensive US to look at the Nunchal fold etc. Our results were back in 48 hours and they were negative!!!! So again another false positive test here. What a relief! And by the way my mother in law did survive her triple bypass surgery and is still recovering. SCARY times.

  • This is my first pregnancy and we aren't doing any of the extra screenings, but I did have a friend that this happened with. They were devastated to get those results at the time but their son is absolutely fine.
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  • image julygal:
    Well, the test is just statistics.  It is not diagnostic. It sounds like it was not done in the recommended manner which I would think could skew results. I would follow the specialist's recommendation to repeat the test. You are also going for your anatomy scan soon, which will look for visual markers of downs. I would then decide what next after the new blood results come in and the u/s results.  

    This exactly.  My SIL's result was 1/5- their baby was fine.  It is most likely that the test being done at wrong time caused an issue, but again, this is just statistics.  I hope everything turns out just fine, and that you are able to feel less stressed upon reading these replies. 

  • OMG mskinner30!! That is a lot to deal with.  I am so happy everything turned out just fine.

    When they call on monday to schedule my appointment with the specialist, I am going to ask again for the level II ultrasound.  I really don't want to have to do an amnio, so I am hoping a second blood test and u/s will suffice and will come back clear. 

    Now, I will try to put all of this aside while I throw a friend a wedding shower tonight and attend 2 other wedding showers this weekend.  Sheesh.  ;)

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  • I'm 29 and DH is 37 this is our first as well. 

    I declined any genetic testing because I didn't want to have months of worrying about what a certain test said.  I read on another board something about Drs telling a girl her LO would have downs (not a chance but WOULD HAVE it) and turned out her LO was a perfectly healthy child. 

    So while Drs are really great at what they do, there is still a lot left up to chance in there.

    Sure, it said a 1 in 137 chance, but thats also a 136 in 137 chance that EVERYTHING WILL BE FINE!  Breathe, relax.  Have faith that things will turn out for the best.  *hugz*

     

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  • Just for reference - I did do the full screening NT and everything and my OB's policy is that they won't call you unless you are 1:40 in your chances of having a DS baby. Also, they were very clear to say that it also means there is a 1:39 chance you don't have a DS baby...

  • image Lovethesun08:
    I hate that there are so many false positives. We know three people who have positive tests and their children were born perfectly healthy.

    Ummmmm...keep in mind that this is an ODDS tool only...not a diagnostic tool. I bet that not one of your "three friends" were told by their dr "Your baby has XXXX issue without a doubt"...because that is a true false positive test. If so, they should have sued their doctor and bought their own island with the proceeds. Something tells me that your three friends don't own an island. So please don't spew false info, K? Thanks.

    Rather, I'm sure that your friends were told something along the line of "you have a 1:150 chance of XXXX issue". Guess what...this means that there is a 149:150 chance that NOTHING IS WRONG.

    OP: you have less than 1% chance of something being wrong. Hold tight to that number until told otherwise.

     


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  • image tjmtjm:

    I'm 29 and DH is 37 this is our first as well. 

    I declined any genetic testing because I didn't want to have months of worrying about what a certain test said.  I read on another board something about Drs telling a girl her LO would have downs (not a chance but WOULD HAVE it) and turned out her LO was a perfectly healthy child. 

    Wow, that is amazing! I take it that her amino/CVS results were mixed up with someone else's? Because that is THE ONLY way that she would be told "your baby has DS". I hope she sued and that dr is no longer in practice. But something tells me that is not exactly how it went down in real life.


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  • I just got results yesterday that we are 1 in 80 for Spina Bifida. Yeah, its scary, and i totally get where you are coming from. Do the test again at 16 weeks. There are lots of false positives, and that's what's giving me hope. We have a special ultrasound on Tuesday. So good vibes for you and your LO as well. 
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  • I declined any of the early tests for chromosomal abnormalities. I suffer from severe anxiety and I know that it would make it worse. The genetic counselor we met with made us feel much better about our choice to skip right to an amnio. I am not as concerned with DS as with other diseases or neural tubal defects. I needed something that would give me firm accurate results. GL to you and remember to switch the numbers around, you will most likely have a perfectly happy healthy baby:)
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  • The literature I was given said 15-17 weeks for this test to be done. I had it at 15.5 weeks with DS, and it will be the same with this pregnancy. The doctor specifically said to make sure my appointment was a little after 15 weeks so I wouldn't have to come back.
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  • With a risk of DS, it sounds like you had low AFP. My baby came back with high AFP when I took the test too early. The first thing we did was retest at 16w.   My results again showed high AFP and thus a 1:160 chance of an NTD or Trisomy 18.  After talking with a genetic counselor, who was ready to do an amnio that day, we decided to wait until after our level-2 US to make any decisions. Our thought was that there is no risk with an u/s but amnio has a risk of loss. Nationally it is 1:200. The dr who would do ours is 1:400. I wavered back and forth on what to do, but DH just could not accept that level of risk. So, I yielded to his opinion knowing that we could always change our minds on the amnio. After a normal level 2 u/s three weeks later, our risk factor changed to 1:1600. LO was born perfectly healthy.  

    Do know that this is just a risk factor. A risk factor means that 1 person out of x will be impacted.  Since our baby was born healthy that doesn't mean I had a false positive, it means that I was one of the 159 out of 160 that go home with a healthy baby who had the exact same test results. So, with women with the exact same results as you, 136 out of 137 will have healthy babies.

    I remember how brutal the period of uncertainty was for me, so I don't want to diminish your emotions, but do know that this has a much better chance of being OK than not.  Know that most babies with abnormal AFP results will be perfectly fine. The person who mentored me through our scare had low AFP and a risk factor of 1:75. Her child also was perfectly healthy.

    P.S. There seems to be some evidence that in healthy pregnancies, outlying AFP results may just give a clue to the sex of the baby. Low AFP may =girl and high AFP may =boy.

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