April 28th – I received a telephone call today from my doctor. On this particular day, I couldn’t imagine what the doctor would want to discuss with me.
Some of the test results from our last appointment were in and showed high risk for a genetic disorder. To be more specific, there was a 1 in 4 chance that our baby had a chromosomal abnormality – Trisomy 13 or Trisomy 18. The blood test results do not differentiate between the two, but more diagnostic testing would be available if Matt and I wished.
I had never heard of either Trisomy 13 or Trisomy 18 and told the doctor as much. She explained the basic chromosomal make-up of humans to be that of 46 chromosomes – 23 from mom and 23 from dad. Trisomy 13 and Trisomy 18 are caused by an extra chromosome of either. The doctor went on to explain that either a Trisomy 13 or 18 diagnosis would mean our child would be “incompatible with life.” With shaking hands and a racing heart, I called Matt to relay the news. What did we want to do? Fortunately, we had a doctor’s appointment scheduled for the following week and could have blood drawn for another non-diagnostic test called Harmony. Another option was to schedule an appointment with a genetic counselor and a perinatologist for an amniocentesis.
Matt and I discussed and decided to make the appointment with the perinatologist. The amniocentesis results would give us 100% certainty. Unfortunately, at 14 weeks, 4 days I wasn’t far enough along in the pregnancy for the amnio. We needed to wait until at least 16 weeks gestation. We scheduled an appointment for Wednesday May 13th.
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