Pregnancy and Testing When Statistics Don’t Mean Squat

For me, pregnancy equals insomnia – so hey, 4am is a great time for a blog post!

If you’re my Facebook friend (which if you’re reading this, you probably are), you might have seen the picture we posted last night of Teagie in her “I’m going to be a big sister” t-shirt.  Thanks for all the likes and comments, we’re very excited!!  My sweet pumpkin having to share Mommy and Daddy, oh my goodness I don’t think she knows what she’s in for!  😉  Things are a little different this time around.  For one I’m WAY more sick than I was the first time – and unfortunately I’m a really loud puker, so sorry coworkers/family/neighbors who are nice enough to come play with Teag when nausea hits while Joel isn’t home ;-).  And thank you Kelloggs, for Crispix, and you’re welcome for the Q3’13 lift in sales.  Secondly, since I’ve done this once before, I don’t have to Google everything I do to make sure it is safe for the baby, which is nice.  But what really makes this different than the first time I was pregnant, is the increased anxiety we feel after something that “could never happen to us” happened to us.  Yes I’m thrilled to be pregnant, but I do at times feel like I’m holding my breath (although I’m trying hard not to).

Since our daughter has the mosaic version of her trisomy (only some of her cells are affected, not all), the doctors/geneticists told us right from the start that the chances that one of us were a carrier of the abnormality were basically zero.  If the glitch came from the sperm or egg, it would be in all her genetic make-up.  We had blood tests done anyway, far before we decided to try for kiddo #2, and sure enough both of us checked out okay.  This meant our chances of a genetic abnormality were equal to those of any other couple…incredibly low.

Fast forward 17 months to pregnancy, and thoughts about screening and testing options we hadn’t used the first time.  One of us was leaning toward these options, and the other was leaning the other way.  Basically, as far as I see it, there are two points of this testing: you can be more prepared for what you will need after birth if something is irregular, and if something is wrong and you find out early, you can decide to terminate.  Since we were unsure if we wanted to do these tests or not, my doctor recommended we meet with a genetic counselor from the U of M to go over our options.

When I first talked with one of the counselors on the phone, I told her a brief version of our story to explain why we were looking into this.  After telling her about the mosaicism and the blood testing we had done, she said “Well, I could tell you not to worry about it because the chances something is wrong are extremely low, but I’m guessing statistics don’t mean much to you” which is maybe one of my favorite things anyone has ever said to me (forget Minnesota nice – Iowa straightforward is what I say, amiright Vicki?! ;-)).  Yesterday we went in for a meeting.

We started by telling the counselor our family background (we’ve done this so many times, we should just print cards to hand out).  We went over Teagan’s diagnosis, her progress, all the tests we’ve had done, etc.  Her assessment was the same as what we’ve heard before – low risk, blah blah blah.  I’m 33, so she still called me “young” – but hey, it’s not 23.  Then we went through 4 tests.

The first was first trimester screen, which would have to be done real soon since I’m already almost 13 weeks.  It looks at the amount of fluid at the back of the baby’s neck, and the presence of the nose bone.  Extra fluid or lack of bone can be an indicator of Down Syndrome, the most common chromosomal abnormality.  This test offers no risk since it’s just an ultrasound and blood test of the mother, but it doesn’t tell you yes or no, just increased likelihood of an extra 21st chromosome (Downs).  We also talked about Verifi, which is a new test that the counselor said is showing up in every maternity publication you can find these days.  It’s a blood test of the mother, so no risk, and looks at the genes from the baby that are floating around in Mom’s blood.  It looks at chromosomes 13, 18, and 21, which are the most common abnormalities for babies to be born with (I believe children with trisomy 13 and 18 have a short life expectancy).  I asked why these three are so much more likely than the rest, and her answer was that an error with most other chromosomes would lead to a miscarriage – for example, if there was a duplication of one of the 1st chromosomes, Mom would likely never even know she was pregnant (although just Tuesday night at the Genetics Family Group meeting I met a woman whose son had some crazy things going on with #1 – he’s the only diagnosed case EVER).  They only offer the Verifi test if they believe your pregnancy is high risk – but that doesn’t mean anyone can’t have it, you just might have to pay for it yourself.  And the last options, the ones that are the most clarifying, were a CVS and an amniocentesis.

Both these tests look at chromosomes and can identify a whole host of different trisomies and syndromes.  CVS pulls a sample from the placenta, and an amnio takes one from the amniotic fluid.  There are risks to the baby involved with these because they are invasive.  The counselor quoted about 1 in 300 for CVS and 1 in 500 for an amnio, due to infection for the former and loss of fluid for the latter if the amniotic sac doesn’t heal.  While these tests are the most conclusive, she did say that since Teag’s trisomy is mosaic, we don’t know for sure that an amnio would have picked it up had we done one with our first pregnancy.

So, now we had a lot of information.  The counselor left the room, after about an hour of talking, to give Joel and I a moment to decide.  We talked about the different options, what they would find out, and what it would mean for us.  We tried to be very logical and unemotional until both had explained our thoughts.  So we finally decided…to do nothing.

After all that 😉 we decided to do nothing.  We decided that whatever result we received, it wouldn’t change the state of our pregnancy, and while the risks of the last two tests were low and results could ease your mind or help you prepare, it wasn’t worth it for us.  I know lots of people who have done some of the tests, and I hear ya – I can definitely see why it is the right choice for some.  We will stay the course – but if you’re offering prayers or hopes for a healthy pregnancy and healthy baby, we’ll sure take ’em 🙂

(Disclaimer: I’m just a regular person relaying what I remember the pros saying, and this is pretty in depth stuff.  If I’ve misunderstood or incorrectly conveyed anything, my apologies!)