I went to the doctor again today. I thought I was going in for a follow-up visit about the amnio. It was also a consultation about a genetic test. They wanted to test the cells which they obtained for the chromosomal tests (the amniocentesis) for Apert's syndrome. Apparently they can do that. The test is usually done after birth, and it is usually over 99% accurate. Before birth, the test is only about 90% accurate. As I understand it, it is kind of like a home pregnancy test in that it is pretty accurate, but not perfect, and when it is wrong it is a false negative never a false positive. So in about two weeks, we will either have a confirmation or we will remain in diagnosis limbo, likely until birth.
The doctor I saw today is an awesome doctor. Josh and I both had the same thought walking out of his office: "I wonder if he can be the regular OB." (He cannot. He only does high risk.) He answers our questions, and makes us feel comfortable asking them. Some doctors treat you like you cannot possibly understand, and some doctors are always in a hurry. Setting him further above even other good doctors, his presence is calming. He does not shy away from difficulties. He was the first to begin to explain some of the very serious things that could be wrong. He does not couch his explanations in propitious platitudes. But he is calm and kind.
The most dangerous possibility currently on the table is called CHAOS. The radiologist at Children's was the first to mention it. She did not blow it out of proportion, but certainly wants to keep an eye on the lungs and hopefully rule out this worry. CHAOS stands for congenital high airway obstruction syndrome. My understanding it that it is a blockage that obstructs airflow so that the baby cannot take that all important first breath. There are treatment options, but with serious risks. Today, the doctor says he does not think it is likely. By all means, we will get the follow up so that if it is an issue we have the right doctors on hand at birth. He does not think it is CHAOS. This is not as emphatically out of the question as trisomy is. Nonetheless, we will take good news when we get it. CHAOS is unlikely, and that is excellent news!