I don't think we ever circled back and tied up the loose ends after we had Gracie. As you may or may not recall, when we actually had Gracie, we didn't have a very good idea of what had caused all of the issues. All of the genetic testing throughout the pregnancy had come back inconclusive.
Well, after she was born, we had an autopsy performed. Most of the findings were things we already knew about (i.e., organs small for dates due to the stress of the hydrops on her developing body, etc.). Luckily, our genetic counselor asked the pathologist if she could see Gracie after the autopsy was complete. When she was able to examine her, she realized that there were some very specific physical features that point toward a rare, specific genetic condition.
So, our working diagnosis is that both Matthew and Gracie were afflicted with Lethal Multiple Pterygium Syndrome. It is a fatal condition that only affects babies in utero, and the babies typically do not make it past the end of the second trimester. (There is a non-lethal version that can be very debilitating, but molecularly it is different so it is extremely unlikely we have to worry about having children with the non-lethal type.) The main components are a cystic hygroma, hydrops and webbed/fused joints. Because it is a genetic condition and neither Matt nor I are dominant carriers (you would see these attributes in one of us if it was a dominant condition), we are both recessive carriers. As such, there is a 25% chance that any child we conceive will be affected. The good news is that it is only a 25% chance. The bad news is that the stats reset for each pregnancy/baby. So each twin we are carrying right now has a 25% chance of being sick.
There is a way test for the gene. But there are only two labs in the world that do the testing, and both are in Germany. Unfortunately, they can only test with 20-30% accuracy, so the results are not very reliable. Until we confirm using genetic testing, there is always a chance something else is potentially the cause. However, statistically, the other possibilities are so unlikely that our genetic counselor and we agree that Lethal Multiple Pterygium Syndrome is the most likely explanation.
Because we have had two consecutive pregnancies affected by this syndrome, the doctors are pretty confident that if they see a cystic hygroma at the end of the first trimester it means the baby is sick and won't survive.
Until we get through that ultrasound, we are trying to take it a day at a time and trying to take some comfort in the fact that the odds are in our favor. We have been the statistical exceptions to many rules over the past few years, so hopefully that means this time the number will work for us.
Stay tuned! We will keep you posted as we learn new information and after each appointment. In the meantime, just wanted to try to bring everyone up to speed on what we learned since Gracie was born.