So after a week of worry, we made our way to our second opinion doctors appointment. This was at a highly respected hospital right by our house, with a great NICU if we needed it. (Let's hope not!)
We went to their ultrasound and genetic clinic. We had a very thorough level II ultrasound with a lovely young technician. She measured everything and was very calming. Then Dr. S came in and discussed with us what he'd seen in the ultrasound after reviewing it. He also took some measurements.
He noticed that yes, the head circumference and long bones were lagging. The lateral ventricle in the brain also looked a little enlarged--could be normal, could not. (The story of this pregnancy.) The kidneys were slightly enlarged and slightly echogenic (bright). The foot to femur ratio was a little low but not abnormal.
He felt that it could be a syndrome of some kind. It might not, but it looked that way.
Then we met with a genetic counsellor. She was lovely and kind, and explained in more detail what these findings could mean. She discussed how we all have 46 chromosomes, and talked about what trisomies were and how they could impact the baby if that's what it was. She talked about how each chromosome is made up of tiny genes, and how the genes could be in the wrong spot (translocation), duplicated, or deleted. And these genes being wrong makes a syndrome.
We sat and absorbed and asked what questions we could. It was hard.
Then Dr. S came in again. He recommended we get a fetal MRI to look at baby more closely. An MRI can give us so much more detail about what is going on with baby than an ultrasound, so we jumped on it. He also recommended an amniocentesis, which is a genetic testing procedure where a needle is inserted through my stomach and into the uterus and withdraws about 20 cc of amniotic fluid. This fluid is then karyotyped into chromosomes for them to look for trisomies. They can also test for genes by doing a micro array and looking really closely at those.
We agreed. We could have done it the same day but honestly we were so overwhelmed we thought maybe we would wait a day. Plus we were waiting on the blood test results my doctor had ordered already, which would tell us trisomy risk.
We went home in a fog. Still no answers. Still only worry.
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