Thursday, February 9, 2012

Genetic Screening

Most people around this time in their pregnancies undergo blood draws and scans for the first of several genetic screening tests.

This includes that 12 week NT scan that everyone always posts about.

I'm not doing one guys.

I am opting out of ALL genetic screening.

My reasoning is simple.

1) Neither the hubs nor I have any genetic anomalies in our families that would cause us any concern and give us reason to suspect a possible chromosomal issue.

2) While the tests are fairly accurate in their negative screening, they go awry when you get a positive on a test.  There is an absurdly high rate of false positives WITHIN the positives.  90% of the positive tests turn out to be negative, so if you're one of the unlucky few who tested positive there is a VERY high probability that your baby is fine, but how much stress would that cause???  I believe the point of doing tests is so that you have information that you can DO something with, I don't believe we would terminate a pregnancy and thus having this information is useless and unnecessary to us but would cause huge amounts of stress.  

I actually have a friend who JUST had this happen, she had her 12 week scan and bloodwork and added with her age suddenly put her at a 1 in 50 chance of a Down's baby instead of the 1 in 250 she was at before her tests.  THERE IS NOTHING SHE CAN DO WITH THIS INFORMATION.  She has to wait until the next scan at 20 weeks before they can tell her anything more.  There is a HUGE huge probability, like 95% chance that when she gets to her 20 week scan whatever they saw on that 12 week scan that caused them concern will be gone, but now she has 2 months of stressing about it in front of her.  I don't want to have to do this, this pregnancy stresses me out enough as is.

I also don't want to be put in a position in which I have to make decisions such as do we want to do an amnio to further confirm and I NEVER want to be put in a position in which I have to decide if I want to terminate a pregnancy.  I will let nature take it's course and if I am one of the unlucky few with a chromosomally abnormal baby than I will deal with that when the time comes.

This is not to say that I don't believe in genetic screening, there are many instances in which I would find it to be an absolute necessity.  If we had family members with Down's or cleft palates or even if we both were of Jewish heritage I would make them test us for Tay-Sachs, things like that.  But as it stands, I see no reason to undergo extra testing.

Generally I'm happy with this decision because it means fewer blood tests and fewer things to worry about, the ONLY part about it that makes me unhappy with my decision is that there is no NT scan!

That means no 12 week scan, I have to wait all the way to 18 weeks for the anatomy scan!

I feel like I'm in the minority here and I want to know what made you ladies decide to do genetic screening, family history? because it was offered?  genuine concerns?  peace of mind? 

Or are there a bunch of you who also declined that I just don't know about and if you did decline, why?


  1. First and foremost I wanted the NT scan to see the peanuts! Secondly I wanted to avoid an amnio - and if all looked good I felt confident skipping that. For your friend's piece of mind, she should think about the MaterniT21 blood test. It will tell her with 99.1% accuracy if it is Down's. It would save her several weeks of worry.

  2. We declined- for us it was for several reasons. There is an even higher risk of false positives with twins (uh, no thank you) and it wouldn't change the course of this pregnancy other than making me even more crazy paranoid than I already am! I flat out told my doctor that the ONLY reason we would do the screening is to see the babies again- then she told me that with twins we'd be having an ultrasound at every appointment anyway... decision made :)

  3. I couldn't agree with you more. I'm pretty sure I'm also going to opt out this time. My husband really wanted to get it done last time (we never made it that far with the 1st pregnancy) just to be more informed, and so I agreed to make him happy. I was only in it for the u/s and an extra chance to see our baby. Unfortunately, that scan is where we found out our little one had stopped developing several weeks before :( Needless to say, having that kind of experience with the scan has scarred me and I just don't want to do it this time around. After having 2 losses, there's no way in he!! I would choose to terminate this pregnancy based on a possiblity of there being something wrong with him/her. If we actually do get to bring this baby home, I'll be so thankful just for that, regardless of any issues him or her may have.

  4. We also did not do the 12 weeks screening with my DD. Most of our concerns were the same exact ones as yours. Only a few months after, one of my best friends had the same issue as your friend & had to get an amnio just to find out everything was ok. It's definitely a personal decision, but I think a lot of women are opting out of it. Missing the scan definitely sucked though!

  5. We decided to do the NT scan. We decided to do the test so that if there was a possibility the Drs would be more prepared going into delivery. Originally we did not want to do the scan because we knew there was no way we would be terminating the pregnancy also we knew there was a high rate of false positives but we decided we would rather be prepared for something even if it wasn’t the case rather than be unprepared if something was wrong. I also do not know my biological father although my mother told me she did not know of anyone in his family with genetic disorder she had not been around the family in over 26 years. Everything came back fine on are scan so I am glad we went through with it.

  6. We never got that far in our pregnancy :(, but we'd decided no, because we couldn't really do anything with the information if we get it, we wouldn't want to do any tests that effected the baby, and we wouldn't terminate even if there was a garentee that something was wrong. It would be incredibly stressful (I have one friend who was given 1 in 16 chance of downs, and her baby did not have it), and their is enough stress on this road without adding to it!

  7. We opted out of genetic testing. It would not have changed our minds about keeping the pregnancy, and I would have just stressed about how we were going to afford the best care for a special needs baby if the test had come back positive. Pregnancy became a big lesson in letting go and just trusting Nature for me. Its hard to do, but you just have to sometimes. :-)

  8. We decided to do it just for the scan, however it was today and the baby wouldn't cooperate for them to do the measurement. They want us to come back next week, but since we were on the fence to begin with, would not terminate and are not comfortable with the invasive testing they suggest if your risk is high I am thinking that we will not reschedule. Seems like that is a definite sign to me.

  9. I was on the fence with this. I decided to do it because I wanted to know the twins were doing okay (via u/s). I didn't do it so we would know about abnormalities (we wouldn't terminate). I think your reasoning is sound. You are doing yourself a favor really and should be content with your decision.

  10. I had ours but in hindsight wish we hadn't. It was an awful day I walked out thinking we had a downs baby because of the sonographer. But our risk factor was eventually considered low. One of the lowest points of pregnancy. I only wanted to see bubs!! If you are comfortable then don't worry about it!

  11. We decided to do it even though we would not have terminated if the results had come back giving us a high ratio for downs. My husband is adopted and we have no knowledge of his family history, so we just did it, so we could prepare in the case that something was wrong and possibly do further testing if our doctor recommended it. There are no guarantees though with any testing and there is a possibility for a false positive, so I completely see why you wouldn't want to do it.

  12. Good point! I don't know what I'd do since I'm not in that position yet, but I whole heartedly agree with you on not worrying over some thing that could be nothing if you were not going to do anything about it anyway. Why not wait until that baby's birthday when you are exploding with love to decide what is best.

    My husband is adopted and when we started dating and people were asking questions about us getting married etc, many people said "is that weird, that you don't know his genetic background for your offspring?" and I was like "no, I'd want to have his babies regardless of his genetics, he's a wonderful person". And here I am with the problems :) As if I could be so choosy for my reproductive partner :)

  13. Good for you. I think it's important to follow your heart on these things. I had all the genetic testing with my viable pregnancies. I was AMA with 2 of them so it was strongly recommended. For me it was for peace of mind. It was nice to rule out possible problems. But I totally understand why some people would choose not to do it.

  14. We are having the NT scan on Monday and they already took all the blood tests 2 weeks ago so they can compile the results there and then. I think to be honest it's mostly because it's an opportunity to have a scan and see again that everything is ok. For peace of mind like others are saying as well. Of course there is that risk of false 'high risk' calculations and the worry that would cause, but we are very aware of this problem with the accuracy of the testing. So in a sense I agree, it would make more sense not to have the NT scan and blood test at all.
    We have decided beforehand that we will not do any intrusive testing though no matter the risk number they come back with and terminating is completely OUT OF THE QUESTION. After having tried for a baby for 6 years and finally getting pregnant through IVF there is absolutely no way we would terminate. We love this baby already no matter what.

  15. I did the 12 week test for Downs with Sadie. I wanted to be prepared and have the proper education and support system in place if I was going to have a child with special needs...boy did I get a rude awakening!!! Since we thought everything was fine and it actually wasn't, we had trial by fire anyway. So much for my plans to be prepared! NOBODY was prepared!! This time around, I don't care about that kind of testing. I have one special needs child, and I know what to do if I have another (although if I do, the second time around will be easier since I already have a support system in place for Sadie). This time around I want all my surprises to be GOOD surprises!

  16. hi - ive been a longtime lurker, but felt the urge to comment on this post because it hits so very close to home for me.i totally get your decision to not test and let whatever happens happen organically. i was kind of there too at one point, but my doc talked me into the testing.
    unfortunately, we were the chromsome abnormality of Trisomy 13, despite us both being <30 yrs old, no prior losses, no family history. This was determined after our NT scan was 5.8MM which is very high. That being said, I wanted to make a comment on your note that "90% are false positives."
    That isn't true and I just want to correct it simply for others out there that might read your post. Blood results ALONE may be that high of an error rate...but NOT poor MoM blood results COMBINED with an NT scan > 3mm at 12+ weeks. MoM results in the 5th percetile and NT scans > 3mm are indicative of something wrong. The higher the NT #, the higher probablity. The NT scan indicates that the lymphatic system of the baby is not operating properly which is one the first anatomy functions to kick into gear. While yes, there are some cases where the baby simply had a fat neck..they are not as common as 90%. My blood results combined with my NT #s put me at <1 in 3 chance for Trisomy and indeed I was. If you look at Trisomy message boards, rarely are there moms that had poor blood & NT and everything turned out just perfect. I'd say it's actually opposite, more like 10% turn out to be false positives.
    I've researched this extensively after we had our test results back and had discussions with 2 different perinatalogists @ both Northwestern and Loyola before we made the decision to have a CVS hoping & praying our CVS results would show everything was fine.
    Anyway, I'm not trying to change your mind - I just wanted to comment on the 90% false positive comment.

    I'm looking forward to following the rest of your pregnancy!! So happy for ya!