Friday, March 19, 2010

My thoughts on Prenatal Testing

I sure have a lot of thoughts these days, don't I? 

There are a lot of ideas out there about prenatal testing, how much is beneficial, how much is not good, when is it worth the risk of invasive testing, etc. Particularly when you already have decided not to terminate regardless of the outcome, some people think that prenatal testing can just add more stress and worry to a pregnancy.

For me, the argument is somewhat irrelevant because all of the issues in my pregnancy were very evident on my 20 week ultrasound, something that is standard just about anywhere in the world, so in my situation, it wouldn't have taken any deliberate prenatal screening tests to notice that there were issues in the pregnancy. I would be in exactly the same situation now no matter which road I took to get here.

I am of the belief, however, that prenatal screening can be a good thing if it prepares you for what is to come when the baby is born. I do think that any screening should be done in an informed manner, understanding what certain results mean, and always knowing that tests can be wrong. Certain tests have higher error rates than others, amniocentesis is near 100% accurate while generally diagnosing something by ultrasound is much less accurate. 

I also think that parents need time to adjust to problems in a pregnancy, and from reading other people's blogs, it sometimes seems like those who knew their child may not make it had a much better experience with their child when the baby was born. I remember reading an extremely sad story about a lady who had a non-problematic pregnancy and when the baby was born, he didn't start breathing. The doctors said he had probably passed away the previous day. The shock of this meant that the mother didn't even want to see her child, they had no photos, and it seems to be something that she had a lot of regret over. I know there was no way in her situation that anyone could have predicted the outcome, but if there was any way she could have been prepared, maybe she would have less regrets now, I don't know.

I do think that different people respond differently to situations, so there is probably no universal "right" or "wrong" in this area. Each person needs to decide for themselves - and I think they need to be free to decide for themselves too. I felt a bit of pressure from certain people to not have an amniocentesis because of the risk - but these people really didn't know anything about our situation, they just feel universally that amnios are wrong. I don't think it's right or fair for someone to try and impose their belief onto someone else - please let people make up their own minds in their situations. Usually if they're considering an amnio, they've got enough to work through without having to deal with other people's negativity as well. On the other hand, I also think it's not fair to pressure someone to get prenatal screening tests done if they don't want it.

Before we knew there was any problem in this pregnancy, we chose to have the "Oscar test" at 13 weeks. Some people call it the Nuchal Fold test, but it is combined with the results from blood work to provide a risk factor for Downs Syndrome and Trisomy 18. The test is non-invasive but it can only provide a risk level, not a definite answer. In our situation, the risk of Downs was pretty high at 1 in 7. 

These results were definitely daunting - there was a 15% chance of Downs, and an 85% chance of the baby being fine. We were told that there may have been other issues, but Downs was the main thing on our minds. 

We chose not to do the CVS because of the risk of miscarriage - at 1 in 100 or so, it's significantly higher than the risk of miscarriage from amnio (usually quoted as 1 in 2-300 but recent studies have shown that it may be as low as 1 in 1600). CVS could have been done right away, but amnio, we would have needed to wait for 3 weeks until I was 17 weeks pregnant. 

We had a lot of discussion, prayer, more discussion, more prayer about whether or not to do the amnio. I was uncertain, my husband was much less "wishy washy" about it than me. In the end, we decided to go through with the amnio because for us, our risk of the baby having chromosomal problems was significantly higher than the risk of problems with the amnio, and we felt that the benefit of knowing in advance would be worth the small risk. I knew that this baby's life was in God's hands and NOTHING could harm the baby without Him allowing it - so I was trusting and believing that God would protect the bub while we found out for sure whether or not it was Downs.

In the end, we went for our appointment for the amnio and in the preliminary scan, the doctor said "This does not look like Downs. It looks like a skeletal problem. You need to go and see a specialist. They may recommend an amnio, but I think they should look at the baby first because amnios may not be as helpful in diagnosing these kinds of problems". So after all that, we weren't even going to get an amnio!

After our appointments with the specialists, we decided that in our situation, the benefits of an amnio weren't worth the risk to the baby. In the case of chromosomal abnormalities such as Downs Syndrome or Trisomy 18, an amniocentesis can be 99.9% accurate. In the case of genetic abnormalities such as most skeletal dysplasias, an amnio often gives no or little information. It may be able to diagnose the problem, but it may not. We didn't think it was worth the risk for a "maybe". 

I do wish there was some kind of test that could give us a 99.9% accurate diagnosis right now but unfortunately there isn't. So we're in that awkward position of knowing there is a problem but not knowing what it is. Still, I am glad for the prenatal testing that we have had, and that we are able to prepare ourselves in advance for this little bub. I am glad that we will not be shocked if our baby needs NICU. With Lana, she ended up in Special Care for 8 hours, just for observation, and it was extremely hard for me because I wasn't expecting it.

There will always be those who decide against prenatal testing of any sort. There are people who don't even want ultrasounds. And that's their prerogative. I hope that those people won't be completely shell shocked if the unthinkable happens to them, and that they will be able to deal with it quickly. But for those of us who could benefit from a little foreknowledge, I am grateful for modern technology and testing and I hope that it improves in the future to the point that there will be less invasive, more safe and more accurate tests for a wider range of possible problems.


  1. I really have no opinions about whether others should or should not get testing done.

    Personally, we chose to not do any testing because it would not be helpful for us. I think that if the test would have shown unfavorable results (that, as your experience shows tend to be vague at best--at least at first) it would have only added undue stress to me. Because, when it comes to prenatal birth defects etc., usually there is nothing that can be done to correct the issue.

    Actually, in my pregnancy, I never got to the point where I felt like I was "home free" and that nothing unfortunate could possibly happen to my baby so I knew that even up until (and after birth) it wasn't a guarantee that everything would go well--with me or the baby. So, I think having that in the back of my mind was good enough preparation for anything that would come.

    For myself, I do much better with "we'll cross that bridge when we come to it." If I had had difficult results on an early test, I think I would have really struggled for 10 months to not stress every waking moment about it. Sometimes ignorance is bliss. I'd rather just deal with things full-force when you have the full outcome.

    But, this is totally a personality thing, I think. There are legitimate reasons why people choose to not test (or scan) and it's just as legitimate to get tests done. For me, testing was pointless. We even only had one ultrasound the entire pregnancy (to check the development of the heart) so we weren't even totally sure if we were having a boy or girl when we gave birth.

    For me, to be in your shoes, knowing but not knowing at such an early stage, would be excruciatingly difficult, I think. But, again, we have really different personalities. I really am amazed by your strength.

  2. Miranda, I totally agree - everyone needs to decide for themselves whether or not they would benefit from different tests and all that. I'm glad that the options are there for those who would benefit from them. While I have endured more stress from my situation, I also feel more strength from knowing. I have so much support from family and friends, I'm really thankful for that. I also have so many people praying for me and the bub - and if we didn't know anything was wrong, they probably wouldn't be praying. I'm generally not really a worrier, and even in this situation I can't help but believe for a good outcome. I wish that there were better tests for my kind of situation though. Mostly it's just diagnosed by looking at the ultrasounds and guessing what fits the symptoms the best, then testing the genes after the bub is born to confirm... I'm coming to accept that though, although it is difficult to know we probably won't have answers for months...