Mosaic Trisomy 16
We won't forget the phone call that started our roller coaster pregnancy. I had the standard AFP test and my doctor called to say that it came back positive with 1 in 7 odds that I was carrying a Downs baby and that I should have an amniocentesis. The 10 day wait to receive the amnio results were the longest 10 days of our lives. When our doctor called to tell us that the amnio screened positive for Mosaic Trisomy 16 and we needed to speak with a genetic counselor the following morning, we were both shocked and devastated. What was Mosaic Trisomy 16? Our doctor didn't know, and as we would find out the next morning, our genetic counselor did not even really know. All they could tell us was that the outcome would not be good.
We left the office feeling very uninformed, so we went home and searched the internet and found the Disorders of Chromosone 16 Foundation website. What a godsend! We immediately contacted Karen Lange who told us about her daughter and put us in touch with other parents who had faced our same situation.
We were scheduled for an ultrasound the following Monday; no abnormalities were found. We continued to have monthly ultrasounds. Slow growth was the only thing that was detected. At about 8 months, they thought the baby might have a heart defect, but were not sure. At this time, I also developed high blood pressure and was being monitored for that as well. Madison was an active baby the entire pregnancy, so I was sure there could be nothing wrong with her.
At about 38 weeks, I was induced because of the high blood pressure. At 1:06 a.m. on Friday, April 1 Madison Ann arrived weighing in at 5 lbs., 2 oz. , and was absolutely perfect ? April Fool's! We were elated. Our excitement didn't last for long though. They took Madison to the nursery while they got my room ready, and while they were feeding her, she stopped breathing. She had to be rescucitated and was in ICU for a week. While in ICU, they did multiple ultrasounds and performed every test imaginable to see if there were any problems related to Mosaic Trisomy 16. They found absolutely nothing. Seven days later, we took her home.
Madison is now a very active, healthy, and extremely happy 18 month old. Although she is still small (10th percentile), she has met all of her developmental milestones and her activity/coordination is even more advanced than our older daughters at the same age. Madison is living proof that a diagnosis of Mosaic Trisomy 16 does not always result in a poor outcome as first suggested by our doctors, so don't give up hope!