We had the amniocentesis test yesterday, and anticipation was in fact worse than actuality.
We arrived at the lab at 1:00 sharp, as I had explicitly been instructed to do by the nurse who made our appointment over the phone two weeks ago.
At around 1:30 we were called in to meet with the genetic counselor, who took our genetically determined defect histories and drew a family tree of x's and y's. She then described what we would be testing for: chromosome pairs vs. triplets, and why my moldy-old eggs might contribute more chromosomes than they should. And how the FISH test that we ordered (for an extra $300 out-of-pocket that goes toward our sky-high deductible) differs from the regular amniocentesis test. For this part of the conversation, she had a flipbook of visual aids.
FISH (fluorescence in situ hybridization) is a relatively new test: Instead of growing the fluid in a culture (which takes ten days) to check all of the chromosomes, they introduce a set of fluorescent markers that attach to five specific chromosomes: 13, 18, 21, x, and y. Results are available in 72 hours.
For each marker, we hope to only see two bright fluorescent dots, not three. 21 is the Down's chromosome, 13 and 18 are the other two frequently found abnormalities, creating disorders that don't have cute names and are very very not-good.
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