Today's appt did not go very well. The cystic hygroma has increased in size over the past 2 weeks, and is now affecting more than the back of the baby's neck. The ultrasound technician also saw some fluid around the lungs. The doctor wasn't particularly impressed by the presence of a little bit of fluid around the lungs, but he said given the growth of the cystic hygroma, he would now consider us pre-hyrdropic. Given the size of the hygroma, the doctor is not very optimistic that it can resolve on its own or that this will end well.
Because of the results of the CVS, we are scheduled to go back in a little less than two weeks for an amnio. They do not schedule level II ultrasounds on that day, but the amnio has to be done under ultrasound guidance so we will get another look at the baby that way. Regardless of the health of the baby at that time we will be pursuing further testing (amnio and a couple other tests) to try to shed some light on what may be causing the cystic hygroma. We need to determine is the baby has mosaic Trisomy 15, and if not, if there is some other chromosomal abnormality that can be found.
The genetic counselor we met with today does not seem to think the mosaic Trisomy 15 is in play here- apparently it just isn't adding up right for her, so she is skeptical. But they need to rule it out. It seems more likely that we are each recessive carriers of some genetic issue that causes cystic hygromas. Whether or not they will be able to pinpoint that issue is up in the air, and we are not entirely optimistic that they will find the ultimate issue. Unless they know what they are looking for (i.e. specific condition or issue with a specific gene/chromosome) there is no way to test for everything. If we are recessive carriers of something that causes this, we have a 25% chance of this happening in any given pregnancy.
As far as how we proceed, we are inclined to let nature take its course as long as there is no threat posed to Kara's health, which, at this point, there is not. Even though the prognosis is rather bleak, we are trying to entertain the possibility that things can still turn around. In the event that this pregnancy ends, how we deal with it, medically, will depend on how far along we are.
We will continue to keep everyone posted as we get new information. In the meantime, please continue praying that the cystic hygroma will suddenly go away and we have a shot at a healthy baby. Thanks again for all your support and positive thoughts and prayers!!