20 week ultrasound

We had our 20 week ultrasound and it delivered mixed news. For a start it's a girl, and pretty much everything looks great - yay! There's just one thing that wasn't as it should be. Apparently they normally see something called the "cavum septum pellucidum" by this time in the baby's brain, and they couldn't see it in our little girl :( So it's either there, and for whatever reason it wasn't obvious or not quite developed enough, which is the likely problem and everything is fine, or it isn't there and means there's most likely other problems with the brain. There's no clear data on what this actually means or may mean, and we don't know how many babies at the 20 week ultrasound don't have an obvious cavum septum pellucidum.

I did find this website which gives you a bit of idea though "Individuals with ASP (absent septum pellucidum) may experience vision impairment or blindness. They may also have coordination problems and hormone deficiencies that result in short stature. Intelligence is usually affected and learning disabilities are common."

So I need to get a fetal MRI on January 19 which should confirm whether it is there or not, and if not it should give a clearer picture of what's happening in the brain. We'll also meet with a pediatric neurologist to talk about what it all means.

I had the option of getting an amniocentesis yesterday where they use a long needle to draw out amniotic fluid through my belly and then grow the cells they find and test them for chromosomal abnormalities. There's an ~1 in 400 chance of miscarriage from the procedure itself and when were in the waiting room for the procedure I started doubting whether it was worth it. Results would take 2 weeks anyway, and the MRI will show us if we need to worry in the first place. It didn't seem worth taking the risk of the amnio just to find out IF there was a chromosomal problem. If there was something they could detect, we wouldn't terminate anyway - it's too far along for me to be comfortable with given how strong her movements are now, and it seems to be a problem where the baby would have quality of life even if there was a problem, and that's the main thing to me. So we decided against the amnio, at least for now.

It's been pretty stressful, but that seems to be the way our life goes!