Mosaic Trisomy 16
When I was about 17 weeks pregnant, I had an amnio performed by a perinatoligist. Because I was over 35, my husband and I were concerned about Down's Syndrome. We had never really considered any of the other chromosomal abnormalities the test could reveal. 2 weeks after our amnio we received a phone call with the news that our baby (a girl) had an extra #16 chromosome. We were then made to wait two agonizing days before the perinatoligst could meet with us to discuss the results. This really threw me into a tailspin. I cried a lot and searched around on the internet to find out as much as I could about Trisomy 16 - which wasn't much. At our meeting with the perinatologist, we were told that the extra chromosome only showed up in one of the 13 cell colonies originally cultured. 26 more cultures were done and the extra #16 chromosome never showed up again. Our perinatologist felt that it might simply be a "culture artifact" but she didn't know for sure and couldn't dismiss the fact that the extra chromosome showed up even once. The only tests that could have given us a definitive answer were invasive and carried significant risks for the baby. Our only option was to have ultrasounds every two weeks to check for any of the physical abnormalities typically associated with Trisomy 16. We also wanted to watch the baby's growth - knowing that growth restriction was one of the major markers of Trisomy 16 disorders. The first scan - done in 2D, 3D and 4D at 19 weeks showed a perfectly sized baby girl with no physical abnormalities. Each subsequent scan revealed the same. At 24 weeks (the point at which we could have terminated the pregnancy) we decided to discontinue the scans and proceed with the pregnancy as though the whole thing had never happened. However, the fear was always there that there might be something wrong that the scans couldn't pick up. Knowing this, I mentally prepared to give birth to a baby with unknown physical problems.
At 39 weeks, I went into the hospital for a scheduled c-section and gave birth to a perfectly healthy 7 pound baby girl. The pediatrician, who was familiar with our story, looked her over from head to toe and declared her "perfectly normal."At that moment, a huge feeling of relief washed over my entire body and I fully relaxed for the first time in 5 months. Because she appeared fine, we decided not to have the placenta tested for Trisomy 16.
Allison Faith (so named because the entire pregnancy took one hell of a leap of faith) is now 5 ½ months old and perfectly healthy in every way.