17w6d: MFM Visit and Genetic Testing Discussion

I had my weekly follow-up with my MFM today and there was lots to discuss, as usual. 

Diabetes Followup 

My blood pressure was really good at my appointment today, which surprises me because I feel like I have all this anxiety... maybe it's all in my head and not really reflecting in my body? They also checked for baby's heartbeat on the doppler. It was kind of funny because we found it right away, but baby moved and it took her about 20 minutes to find it again! You could hear him moving away from the doppler. I think she was pressing too hard. He doesn't normally move if you press the doppler lightly. LOL. It's always wonderful hearing his precious heartbeat. It was beating away at 156 bpm.

I thought my blood sugars looked excellent the last week. I've been cooking at home a lot lately and hardly going out to eat. But apparently, it's still not where it's supposed to be. We are upping my insulin intake AGAIN.

Morning: Humulin N 16iu, Humulin R 6iu
Evening: Humulin N 36iu

Hopefully this will be good and things will stabilize? I was hoping that things would be OK and I can ask about lessening the amount of times I test throughout the day. Testing 6x's a day is getting tough... not to mention that nasty insulin needle. It's so teeny tiny, but sometimes it hurts like hell and burns. Not sure why it's painless sometimes and so painful other times.

There was also a concern that I've lost weight. I guess I'm down 3 lbs since my last weigh-in. She doesn't want to see me lose any more weight. If I lose anymore weight, she's going to have me add more meals into my day. Which is so weird because I feel like I'm eating a lot already! Will see how this goes.

Genetic Testing 

The genetic testing stuff is a little strange and confusing at times. I haven't posted much about it since my initial meeting with the Genetic Counselor last month (read my blog entry here).

The Genetic Counselor wanted to do a genetic screening panel on me, but it would be useless if we didn't have the donor's genetic testing done. Last week I called my sperm bank to have them send over my donor's genetic testing results to my MFM. When I was going through IVF, I specifically chose a donor with the "extensive" testing (read my blog entry here). I'm glad I did! Turns out they test for about 101 potential chromosomal abnormalities. My donor was not a carrier for anything. Which is good news.

Since my donor isn't a carrier for anything, that means they don't need to do an extensive genetic panel on me. We both have to be carriers for the baby to get it. Well, the genetic counselor in all her glory said, "it was unlikely, but not 100% guaranteed." Ugh.

Even though the donor is not a carrier, we are still doing some testing. I went in today for two specific blood tests:

1. Fragile X. I guess this is the only thing a mom can pass on genetically on her own to the baby. The results should come back next week. 
2. Sequential Screening. This test is similar to the 2nd trimester Quad screening, but a little more extensive maybe or maybe it's the same? It checks hormone levels (AFP, Estriol, hCG, inhibin). They will combine these result with my 1st trimester NT blood results and come back with a risk rating on things. This test will take 2 weeks to come back (the torture...!!!). 

The big concern is that my PAPP-A and my hCG from the 1st trimester screening were low, which led to the "high risk" stuff. If any of the hormone levels in the sequential screening come back askew, it's not a good sign. This website explains the Sequential Screening: http://www.healthline.com/health/pregnancy/sequential-screening#Testmeasurements3. The second blood test measures for the following.

• Alpha-Fetoprotein (AFP): The baby�s liver mostly secretes this protein that passes over into the mother�s blood. Too-high and too-low levels of AFP have been associated with birth defects. 
• Estriol (uE3): Estriol is the highest amount of circulating hormone in a woman�s blood while she�s pregnant. Low levels of this hormone are associated with increased risk for Down syndrome and trisomy 18.
• hCG: Human chorionic gonadotropin (hCG) is also known as the �pregnancy hormone.� The body usually makes less of this hormone in the second trimester than in the first. High levels of hCG are associated with Down syndrome, but there are other reasons levels may be high. Low levels are associated with trisomy 18.
• Inhibin: Doctors don�t know exactly the role this protein plays in pregnancy. But they do know that it increases the reliability of the sequential screening test. High levels are associated with Down syndrome while low levels are associated with trisomy 18.

The biggest concern is that there may be something wrong with my placenta and that it can't support the baby or the baby can't get what he needs -- which can lead to some scary stuff. The other concern is that the baby may have a chromosomal abnormality, but this is looking more unlikely due to the good ultrasounds, low risk on NIPT, and the genetic screening of my donor. But as my genetic counselor said, "we can't rule it out."

The genetic counselor is all doom and gloom. My MFM told me, "Don't worry about it."

I think I've been handling all of this pretty well (see my blog entry here where I talk about it). I figure, things are going to work out the way they're going to work out. I can't really control it. Of course I want my baby boy to be healthy. I want him to be born full-term and healthy. But really, I'm getting monitored so closely. My MFM told me not to worry about it. She said if something is funky in the results, we'll just add additional monitoring appointments and we're already doing a lot as is. With such close monitoring, I feel like my medical team will prepare me and hopefully get ahead of any problems (if we are faced with any). I just don't think it's going to be this "out of nowhere" surprise if something does go wrong.

Right now, I'm trying to let myself be happy about my pregnancy. I'm starting to FEEL pregnant. My tummy is getting uncomfortable and I'm getting these odd aches/pains. I'm not complaining though, it just makes me FEEL pregnant going through all these things :)

Hoping to get good news from these blood panels and hopefully be able to relax a little. The next big appointment is the anatomy scan. The results of the scan + the sequential screening should get me to the next stage in my pregnancy.