Just to start off, yesterday’s appointment went well! Andre and I had no ill effects from the fall and he looks very large and healthy!
I guess I should explain why we even went to the perinatologist in the first place… I’ve mentioned before that my sister is a genetic counselor, she works with cancer genetics but was also trained in prenatal genetics. When she was going through school there was a new buzz about the slightly higher risk of imprinting defects (chromosomal abnormalities passed down from your parents) in IVF babies.
One of the common conditions caused by an imprinting defect is called Beckwith Wiedemann syndrome, it is a form of gigantism (yes that’s a real word!) Two of the common features associated with BW are macrosomia (birth weight and length >90th percentile) and macroglossia (enlarged tongue.)
When my sister heard that Andre was so big she remembered what she’d learned in school and started getting nervous so she called a friend who is also a GC for some literature. In true small town fashion the GC talked to the perinatologist she works for who is good friends with my
OB. The peri just happened to mention it to my OB in passing, so my OB called me to make sure I wasn’t worried. I wasn’t worried. My sister never said anything to me about it…
My OB and I talked and decided I should get an
with the peri just to make sure Andre’s tongue wasn’t sticking out and that everything else looked good. US
We found out he is very big, 97th percentile head, 90th percentile body and 75th percentile legs (short just like his dad’s). His overall size is around 90th percentile, which the
tech said was a little over 2 weeks ahead. We got a good picture of his face, and noted that his tongue was not showing! According to the GC who we met with after she thinks his risk of BW is very very low, somewhere around 1/4000. US
He is still positioned like he always has been, head, arms, and feet all up in the upper right side of my belly under my ribs. The peri said he is very happy there and it is very unlikely that he’ll ever flip head down, which means a C section for me (which I’m OK with considering his gargantuan head!) They also estimated his current weight at 4 pounds 6 ounces.
|Precious little face and his foot up by his forehead, flexible baby!|
The only negative to come out of the appointment was that his bowels appeared slightly dilated. They were quick to tell me that it could just mean he needs to take a poop. There are a few other things that it could also be a soft marker for, most notably cystic fibrosis. We’ll go back for another
with the peri in 3 weeks to check and make sure everything looks good, and sometime between now and then Blue and I need to decide if we want CF carrier testing done. US
I’m still not sure how I feel about the carrier testing since even if we both carry the recessive gene he still only has a 25% chance of having CF which means we still won’t know anything until he’s born. Normally I’m a knowledge is power kind of girl and like to be prepared but it sounds like this might just unnecessarily worry me…