The day after the CVS was Friday, May 29, the day of my brother's wedding rehearsal. My husband and I both took the day off from work and drove down to Bristol, RI fairly early. It was raining so we were in no rush to get there and hit the water with our kayaks! The genetic counselor at Brigham told us the phone call would likely be after lunch. It could be 1pm or it could be 4:30pm, she said. Of course it was 4:30pm. We waited anxiously all day for the phone to ring. We were out on the boat that my brother was getting married on when my husband's phone started to vibrate. My brother was sitting next to me so he put his arm around me while my husband listened to the results. I heard responses like "oh well that's good news" but then phrases like "well we didn't discuss that" so of course I was worried.
"It's a girl," he said as he hung up. This brought a HUGE smile to my Mom's face! But there was a big but. The sex of the baby was the thing we were worried about. But it was the number of chromosomes in the placental tissue that was off. Of the three chromosomes to watch (13, 18 and 21), one had 4 in the testing. All three normally have 2. If they have 3, it's bad news. Three chromosomes in 21 means Down Syndrome; three in 13 is fatal and three in 18 is fatal as well, although very rare. Since the lab didn't find 3 but instead saw 4, their results were inconclusive and more time (7-10 days) will be needed for additional testing. From the sounds of the genetic counselor and our doctor, we would have had a miscarriage by now if there were indeed 4 chromosomes. We'll be at 12 weeks in two more days and the baby looks and sounds healthy. Our fingers are crossed!
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