Perinatologist visit, Amniocentesis

6/10/14 - Tuesday 

19w1d - Met with the perinatologist, Dr. D, up in Billings today.  We had a detailed ultrasound and fetal echocardiograph first.  It showed that baby girl has the following:  

Large multiseptal cystic hygromas 

Bilateral pyelectasis 

Complex congenital heart disease including:

[ ] Hypoplastic left ventricle 

[ ] Retrograde filling of aortic arch 

[ ] Lack of forward flow across mitral/aortic valve 

[ ] Enlarged pulmonary artery 

[ ] Might represent AVSD that favors right heart 

Dr. D's best guess is that it's Down Syndrome, and that it will be fatal - either in the womb, or soon after birth.  He said her heart will have a rough time making the transition from inside the womb to outside.  Since a chromosomal disorder is highly likely, we decided to go ahead with an amniocentesis.   

I like to crack jokes when I'm faced with rough stuff, or am nervous.   When I found out they weren't going to numb me for the procedure, I said, "Can I get a milkshake?"  Dr. D laughed and said, "You like milkshakes?" "Where did you go to school?" Me: "BYU" Dr. D: "Me too.  There's this place about a block or two from campus..." Me: "The Malt Shoppe?" Dr. D: "Yeah!  I ate at LEAST 1,000 Grasshopper milkshakes while I was there, you know the kind with Oreo and mint?"  Me: "Mmmmm"  We had a good laugh about that.  I had no idea before this that he went to BYU.

I have always cringed at the thought of having an amnio done.  And now, I recognize that it's a very cringe-worthy procedure.  They didn't numb me for it.  I just laid down, they had the ultrasound going to make sure they didn't poke her.  Then, Dr. D stuck a very long, thin needle into my tummy, into the amniotic fluid.  It took several minutes to collect the sample.  Holy moly it hurt, and felt weird at the same time.  I couldn't watch, so I closed my eyes, breathed really deep in and out so I wouldn't faint, and squeezed Reid's hand.  Once they finished, they recognized that there was maternal blood in the sample.  They hope it won't affect the results, but it could.   

After the amnio, we went into another room where the genetic counselor, Susan, explained how the test works, and we discussed the different possibilities, including our baby girl not surviving much longer.  It was rough to talk about, but she is very sweet, and answered all of our questions.  She even had tears in her eyes as we talked about the hard stuff.   

A nurse came in and gave me a Rhogam shot, lucky me!  And a phlebotomist came to collect a sample of my blood to send with the amnio sample - that way they can hopefully separate my cells from baby's. 

All the information we received today was really overwhelming.  I felt exhausted and emotional.  There are so many unknowns, and so many possible outcomes.   

Oh, and they saw that my placenta appears to be just low-lying now.  It looks like it's right on the edge, but not covering my cervix anymore.  He wants me to go back to light duty instead of bed rest, because he's more concerned about me getting a blood clot.  He said pregnant women are 3x more likely to get a blood clot.  So at least we won't have the placenta issue to worry about.  Definitely good news on that front.