Ultrasound Appointment - 7/19/2010

On 7/19, we had our mid-pregnancy ultrasound with a Maternal-Fetal Medicine specialist. The purpose of the ultrasound is to identify any abnormalities that may require additional testing. At the beginning of the ultrasound, everything seemed fine. The baby was very active (even though I haven't felt him yet) and the ultrasound technician was just doing a bunch of measurements. We got to see his hands, feet, arms, legs, head, heart, butt :), spine, everything. But as the ultrasound continued, the technician began focusing on some things that didn't look right.

We kept asking questions, like "Is everything measuring correctly?" and "How is everything looking?" The technician told us that Nugget is measuring only 16-17 weeks, even though I am 18 1/2 weeks along. He also said that Nugget has spina bifida, which means that part of the spine didn't fuse together all the way, so he took a lot of time looking at each vertebrae to see where the separation started and how bad it was. He then looked at the heart and noticed that Nugget has 2 holes in his heart. He also mentioned that Nugget has a 6th finger on one hand, 2 clefts in his lip, and a single umbilical artery. At the end, he looked at the sex and thought it looked like a girl, even though the parts weren't quite right. Of course, we couldn't believe all of these horrible things that were wrong with our baby, and we didn't understand what they meant.

After the ultrasound, we met with the doctor and he explained that each of these abnormalities in isolation would be curable with surgery, but because Nugget has so many, the doctor was almost positive it meant that he has Trisomy 13, which we had never heard of! Basically, Down Syndrome is the most common chromosome abnormality and it occurs on the 21st chromosome, and as you know, many children with Down Syndrome live good lives. Trisomy 13 is a chromosome abnormality that occurs on the 13th chromosome and is basically fatal. Only 5-10% of children with Trisomy 13 make it past a year of age. Most die in the womb, or within a few hours/days of birth. Some make it a few months.

Babies with Trisomy 13 can have all kinds of different symptoms. Some only have a few and some have many, like Nugget. Nugget has the worst severity of spina bifida - he has both spine and nerves exposed, which usually results in paralysis. Usually, surgery to close the spine is done within the first 24 hours of birth. Nugget also has 2 large holes in his heart, which can also usually be fixed with surgery, but not until at least 3 months of age. Even if all of these abnormalities could be fixed with surgery, Trisomy 13 causes more than just physical abnormalities. It also affects the nervous system and other internal systems, so some babies just stop breathing or their heart stops working, even if they don't have all of these abnormalities. And you can't tell how long the baby will live based on the number of abnormalities. There are just so many unknowns.

Of course we were devastated and in complete shock. He told us that we could get an amniocentesis to confirm the diagnosis and then make decisions from there. So we did the amnio that afternoon and on Tuesday we got the preliminary results that Nugget does have Trisomy 13 (T13) and he's a male, not a female (ambiguous genitalia is another symptom of T13). There are 3 different kinds of T13 - Mosaic (which means that only some of the cells have the additional chromosome), full (which means all cells have the additional chromosome), and translocation (which is full but means that it's caused by one of the parents carrying around a mismatched set of chromosomes, so any future babies by those parents have a much higher chance of having a chromosome abnormality). We won't know what type of T13 it is until the full results of the amnio, which we should get sometime next week, but the doctor is pretty certain that it's full T13 because of all the abnormalities.

Many people who receive this diagnosis decide to terminate the pregnancy, but we don't feel that it's our choice to decide when Nugget will die. So we have decided to continue with the pregnancy, so that God can decide when Nugget is supposed to die. But we do have other decisions to make, such as how do we want to handle his death and how do we care for him if he is born alive. We are still in the process of grieving and acceptance. It still seems so unreal that this is happening, and it is definitely the hardest thing we've ever had to go through.

We are seeking counseling through the UNC Center for Maternal and Infant Health to help us through this process because we really have no idea how to handle it and what to expect. Please pray for us and Nugget (we are going to name him Brady, but don't have a middle name yet) to help us get through this. I don't know when we will be able to talk to you about this, so please give us some time. We will continue to update this blog as we learn more information.