Genetic Testing

At 17 weeks we went for another appointment, still gushing over the news of our little girl.  Everything was looking great, strong heartbeat, healthy mama.  The doctor brought up the news of doing some genetic testing since I was 34 and while not to old, old enough haha.

  ***Side note- did you know they call a pregnancy after 35 a GERIATRIC pregnancy!! That made me feel incredibly old***

The test that we did was a genetic screener that basically gave you an idea of anything that might be going on with your baby.  The doctor described it as a screener and not a diagnostic test, so it wouldn't tell us that we have a problem, but more that there could be a problem.  The test screens for multiple genetic disorders including down syndrome, cystic fibrosis, spina bifida, etc.  I thought the test would be good since I am no spring chicken and despite not fitting the "geriatric pregnancy" requirements I was pretty darn close. So we had the blood test done.




A few days later I received a call from the doctors office letting me know that there was a high number in my testing and that my doctor wanted me to get looked at by the specialist in Murray.  I asked some questions, which they didn't know the answers too, and just told me that the specialist would be contacting me.  I was nervous! This was my first pregnancy and I didn't know what these tests were all about and it is terrifying to think that there is something wrong.  The specialist called and explained that I had a high number under the neural tube defect indicator. This, upon further googling by me, was the spina bifida indicator, and they wanted me to come in for an ultrasound.  We set an appointment and tried not freak out in the mean time. I had to stop googling :)

I will throw in a little baby bump picture here (but really I just felt fat) because this post is a lot of information and not a lot of pictures :)

So at this point, it was Christmas time and I believe our appointment was for after Christmas possibly the beginning of January- all my appointments have deleted from my phone or I would be able to be exact haha.  We went up to the Intermountain Medical Center Maternal Fetal Medicine clinic and prepared for our ultrasound. My research had told me that they would be looking closely at her spine to make sure all was developing well with it. The ultrasound tech was doing measurements and focusing on her abdomen and spine, but looking for all the organs and things that a baby at 18 weeks should have.  She finished up and told us she would go get the doctor. I am not going to lie.. it was all very impersonal and scary to me.  She didn't really talk to us during the ultrasound, and while I am able too see all the measurements and things she was doing, I am not an ultrasound tech, and this is my first baby so I would have appreciated a little more explanation. It was a pretty cold experience.

Next thing we knew a second tech came in to do an ultrasound. She explained that the doctor wanted a "second pair of eyes" on our baby and that she should be doing a few repeat measurements.  I mean seriously talk about terrifying for Mike and I.  We had very little explanation of what they were even looking for, or why we were there, and then a second person has to come in before the doctor.  We were not impressed. She took a few measurements and excused her self saying that the doctor would be in shortly.  At this point Mike and I just look at each other and are unsure of what to think.  Our baby looks perfect to us, and we aren't quite sure why it all seems to be such a big deal.

The doctor walks in with another person and introduces this additional person as a geneticist (great, not intimidating at all) She begins to explain some of my test results and kind of why I am there (this would have been great at the beginning of my appointment).  To sum it up she basically explains that a typical normal test that would indicate no risk of a neural tube defect is a 1.0 on the screener.  Moms who usually have a baby with spina bifida score between a 2.0 and a 3.0.  My test results were somewhere around a 16.  16! yeah as in a 10 + 6... So, of course, my questions and apparently the doctors questions as well were "what does that mean?" At this point they didn't know. She explained that our baby looked perfect. She didn't see any problems with her spine, or abdomen (a neural tube defect could also me and open abdominal wall on the baby).  In a really poor bedside manner way she basically told us she expected to come in and see that the baby had died because my number was so high- again, unimpressed...  The doctor basically said that they would monitor her as she is growing and that I should make another appointment for 4 weeks out.  She left us with the geneticist who explained that she was going to ask us some questions about our backgrounds because potentially that could have caused a high number like that.  She asked us questions about our family members and if there have been any genetic issues with members of our families.  Random questions about our backgrounds- apparently there is a Finnish kidney disease out there that causes these high numbers.  Basically questions to try to explain the test.  Nothing really stood out and we left pretty unsure as to what was going on and quite frankly really uneasy.