12w+6d: High Risk for Trisomy 18/13

After taking so long to get pregnant, I used to imagine what being pregnant would feel like. I imagined it would filled with so much happiness, giddiness, excitement and so much planning for this new little life.

Things haven't really gone that way for me... First, the low-starting betas. Second, the Subchorionic Hemorrhage. Now, I just found out I'm at a high risk for Trisomy 18/13. 

1st Trimester Screening & NIPT

Last week I had my NT scan and I had my blood taken for two tests: 1) NT Blood Work (AKA 1st Trimester Screening) and 2) NIPT (Non-invasive pre-natal testing) with Panorama. The NT Blood work relates to your hormone levels. The NIPT is a DNA test. 

I have to say, I was not worried about these blood tests AT ALL. I just wanted to know the gender! I didn't even really look into what they specifically tested for. Well, they test for Trisomy 21 (Down Syndrome), Trisomy 18 (Edward's Syndrome), and Trisomy 13 (Patau syndrome). Feel free to look them up. But basically Trisomy 18 and Trisomy 13 are almost always a fatal prognosis where the babies either die in-utero or die shortly after birth. 

The NIPT test through Panorama company came back inconclusive. I was short like .1% of fetal DNA in my blood, so they weren't able to come back with results. I had like 3.4% of fetal DNA and they needed 3.5% in order to process results. 

The 1st Trimester screening came back with a low risk for Trisomy 21 (Down Syndrome) with a 1:6500 chance. Results came back with a 1:94 chance for Trisomy 18/13. Which means I'm high risk for one of these. The 1st trimester screening doesn't break out between Trisomy 18 and 13 because they both have the same hormonal indicators. The NIPT test would be able to break them out better. 

Just to level-set, these tests are just "screenings" and aren't diagnostic. It doesn't mean my baby DOES have these chromosomal abnormalities, I'm just high risk for them. Which scares the crap out of me. 

What's Next? 

The only way to 100% know if my baby has Trisomy 18 or 13 is through an amniocentesis, which is a very invasive test that has a risk of miscarriage... I had no plans at all to do an amnio. But now, I'm not so sure because I really want to know what to expect. Before we get there though, my MFM said that there are normally 'soft markers' they can see on an ultrasound. They didn't see these on my NT scan, probably because it was so early or because they weren't really looking for it. My MFM wants to perform a detailed ultrasound first. The plan: 

1) Repeat the NIPT Panorama test at 15 weeks. 

2) Perform a detailed ultrasound at 15 weeks. 

3) Have me talk to a genetic councilor. 

The detailed ultrasound is similar to the one performed at 18 weeks (at what's normally called the anatomy scan). I'll be repeating the detailed ultrasound at 18 weeks. If any soft markers are found at one or both of the ultrasounds, my MFM will give me a recommendation on whether or not an amnio should be performed. 

OB/MFM Appointments

I had my OB appointment and it turns out I have a UTI (my second one while pregnant) and bacteria vaginosis. I asked my OB why I keep getting stuff, since I haven't had a UTI since I was a kid and never had other issues. She said it's just because I'm pregnant, that our bodies do weird things. So, this might keep happening. The OB wasn't able to find my baby's heartbeat on a doppler, so they told me to have my MFM perform an ultrasound (their ultrasound tech wasn't there). 

My MFM wasn't very happy with my food/glucose logs. I was on vacation and it was nearly impossible to eat regularly or check my glucose levels 6x's a day. We are upping my bedtime insulin, I'm up to 16iu/night and 12iu/morning. They performed an ultrasound to check for the heartbeat and they were actually able to see the baby through the tummy, although it was hard to see clearly. My uterus is still very tilted, but should start to come forward (hopefully). I'm getting some back pain, I think it's due to the tilt. We were able to see baby moving around and hear the heartbeat of 163 bpm. Such a relief.

Eye Appointment

Had my annual eye exam and all is well. 

How do I feel? 

I've been in sort of a daze since I've had the news. I was just letting myself get really excited about the pregnancy and I had just told my close friends and family about being pregnant over Thanksgiving... Now, I kind of regret telling anyone anything. I should've waited for these results. But after my NT ultrasound went so well, I just assumed everything was OK and I wanted to finally share the news. Stupid... stupid. I should have waited. I've only told a few close friends about this "possibility" and don't plan on telling anyone else for now. 

What is so frustrating is that the odds are so very low for the baby having either trisomy. But at the same time, that means that 1 in 94 babies gets the diagnosis. For that ONE baby, how devastating... I can't help but worry about if my baby ends up being that one baby out of 94. I want to think and believe that my baby is OK and believe in the odds. But, I just can't let myself relax or trust in it. I think it has to do with my experience so far being pregnant and just how much I struggled trying to get pregnant. 

I'm trying to "let go and let God" and all that, but my mind and heart just hurt. It's like I'm hitting the pause button. I was going to send out "I'm pregnant" announcements this month, but now I'm going to wait... I just need to get through all this testing. 

I'm a bit envious of other women that have such easy pregnancies and no worries about any of this type of stuff. To be so lucky... 

I wish I could be celebrating my baby instead of worrying. After my infertility struggles - this just all sucks. 

Next Steps:

• 12/22/16: MFM - Repeat NIPT test, detailed ultrasound, and genetic counseling 
• 12/30/16: OB - follow-up appointment