Juliette
Mosaic Trisomy 16
Our pregnancy was diagnosed with MT16 (100% CVS, 30% amnio affected cells). We were devastated and we immediately tried to make sense of what this meant but there was such limited medical information available. At the time of the CVS finding, the perinatologist we saw recommended termination if the amnio was positive. Without question, the existence of this foundation and the responses from other MT16 parents with stories about their children changed our life. If we would have only relied on the doctor’s advice, genetic counselor’s assumptions or limited medical studies to make our decision, our completely healthy daughter might not be here today.
Our daughter was born at 35w4d. After our CVS diagnosis and seeking a second opinion, we found ourselves in the amazing care of a maternal fetal medicine specialist and expert in reproductive genetics, Dr. Mary Norton, at the University of California-San Francisco (UCSF). She performed our amnio. We were carefully monitored with growth ultrasounds every three weeks and then every two weeks after 30 weeks. Later we had non-stress tests and we also had three fetal echocardiograms to rule out heart issues. I did not experience preeclampsia like many other mothers have with abnormal placentas but my obstetrician monitored my blood and urine carefully for this as well. My pregnancy was stressful because of the diagnosis but in hindsight fairly uneventful. We chose to seek out second opinions and found doctors, an acupuncturist, and psychologist who were able to support me though the pregnancy and who helped me manage my stress despite immense anxiety over the outcome. On the ultrasounds, the baby measured smaller in abdominal circumference and the femur bones (under the 3rd percentile) after 24 weeks but the overall weight of the baby did not meet the IUGR definition until after 35 weeks. Once IUGR was diagnosed and the baby had stopped growing, it was decided that it was safest to be induced right away. I was admitted and, in early morning hours before my induction, the baby decided to come on her own naturally. She was born at 4 lbs 0.5 oz and stayed 16 days in the NICU because she was so small and just needed to learn how to eat and grow. We tested the baby’s blood at delivery but no MT16 was found. This is fairly common with this mosaic form of this particular trisomy and most people who test after birth cannot find the genetic disorder in the baby's blood.
Once she got home, despite being so tiny, she did very well and grew fast. She has been in physical therapy on and off since four months old for torticollis (thought to be related to womb positioning not MT16) and it has nearly resolved. She was evaluated at six months old by our NICU follow up clinic and found to be on target developmentally. At ten months old now, she is hovering around the 40th percentile for weight and is an active crawler and overall such a happy and easy going baby. She is as “normal” as any other baby her age. We have been fortunate to have not discovered any major defects so far and are cautiously optimistic yet watching and following up on any little thing that concerns us. We have been through enough to not take her good health for granted. But it is all about moving forward now.
For us, this diagnosis was very difficult mostly because of the very limited long term medical data that exists on MT16 but through the DOC16 Foundation, I connected with 36 families who shared helpful stories, their experiences, and helped us feel more hopeful. My pregnancy was an awful emotional experience but in hindsight I'm glad we had the diagnosis because we were able to carefully monitor my daughter and ensure she was delivered safely and successfully. While we don't know what the future may hold, the stories from the MT16 families with older children reveal normal outcomes and we have no reason to be anything but optimistic. All we need to do is look at how well our daughter is doing and reflect on the joy she brings us for reassurance.