The genetics lady phoned around 4 pm yesterday. We spoke for an hour. She took a detailed family history and since each of my parents has 6 siblings and nearly all of those siblings have children, it took a while. She was nice enough to phone the cardiologist and get the results of the echo, as they had only been sent to the peri and the OB. It was her feeling that with the heart defect alone, baby's chance of Downs is 5% and that the short arms and legs are curious but cant easily be factored in to the risk assessment. The reason for that is, most babies with Down syndrome have short femur and humerus bones. All of this baby's long extremity bones are short, including the tibia, fibula, radius and ulna. Her feeling is that this looks more like a mild skeletal disorder that runs on my Dad's side of the family. So.. shes having me "examined" by the medical genetics guy in her office. Brian couldn't help but laugh when I told him that I would be measured. We thought of Victorian scientists with an interesting ape skeleton with all their calipers and equipment. She told me to bring in as many of my dad's family members as possible but none of them live in town except for my older brother who seems to have normal limbs. He is coming along anyway in the interests of moral support and science. She went over the whole detailed anatomy scan from head to toe, telling me about all the soft markers that Titus does not have. That made me feel quite a bit better.
I asked about an amnio and she said that its not safe at this point in a pregnancy. Too great a risk of preterm labor and baby is too small to survive. She did ofter the second trimester blood screening. I thought it was a couple weeks too late for that but she knows of one lab out of state that will take samples as late as 24 weeks. Its pretty unusual to do one after 20 weeks but the need does arise every so often. She had a couple of questions for her supervisor about this but I will get the blood work done either today or Monday. I am 22 weeks 3 days. Her hope is that this will come back with a much lower risk of Downs than I currently have just based on the hole in his heart. If not, she suggested an amnio later in the 3rd trimester to know for sure.
1 day ago