As most of you already know, we are expecting our first child in late March, and we are so excited to see the baby in our arms! Many of you also know, though, that the second trimester morphologic ultrasound revealed an abnormality in the formation of the baby's abdominal wall called an omphalocele. This condition involves a portion of the abdominal contents poking out through a hole near the umbilical cord. These can be quite large, measuring up to four centimeters (that's about one and a half inches) or more in diameter and have parts of the small intestine and even the liver protruding out. Our baby's omphalocele is only 0.7 centimeters in diameter and only has a small amount of small intestine in it. Therefore, our baby's diagnosis is actually known as an omphalocele minor.
For all omphaloceles, the risk of dying after birth is considerably high, even approaching 40% in some studies. This is because it is quite often associated with other problems, most commonly structural problems with the heart. Other problems associated with omphaloceles are trisomy 13, 18, or 21, which refers to one too many of each of these chromosomes. For example, trisomy 21 is also known as Downs Syndrome. These are more rare associations than heart problems, but they are common enough to require a close investigation when an omphalocele is found. Trisomy 13 and 18 are incompatible with a normal lifespan, and these babies usually do not live longer than a few weeks or months. They also look for evidence of another problem called Beckwith-Wiedemann in which the baby will have a large head, large tongue, low blood sugar, and other abnormalities that many make the baby more difficult to manage at birth.
On the other hand, many if not most of these omphaloceles are isolated abnormalities. In such a situation, the baby will have no other problems, and the omphalocele is fixed surgically after birth. These babies have a nearly zero chance of dying if the abdominal wall is fixed.
The good news for us is that, so far, several ultrasounds have revealed no evidence of poor growth (which would suggest one of those trisomies) or large body parts (suggesting Beckwith-Wiedemann). We also went to a pediatric cardiologist at Saint Louis University who performed a fetal echocardiogram, which is basically a high resolution ultrasound that looks specifically at the baby's heart while it is still in the mother's womb. Because heart problems are the most common abnormalities associated with omphaloceles, this was a pretty important test. This revealed a completely normal heart and aortic arch with no aortic stenosis or other valvular abnormalities. Clearly we were very excited to get this news.
So, where does this leave us now? Our baby has an omphalocele which APPEARS to be an isolated finding, meaning that, otherwise, he/she has no other medical problems. It may have one of the trisomies or another problem that may develop later, but we will continue to have ultrasounds to make sure the baby is doing well up to birth. Some doctors may strongly recommend that Abbey have a c-section, but this may not be indicated when the due-date arrives. We will visit with a pediatric surgeon in January to make plans for how and when the omphalocele will be fixed. There is a growing multitude of health care professionals involved in the care of mom and the baby, and we are confident that we are receiving the most excellent care possible.
Therefore, we fully expect that the baby will grow normally, deliver without incident, have surgery after birth, and go home shortly thereafter with no further problems. We invite you to celebrate the good news and pray with us for the wisdom of the doctors and for peace and patience for us as we rely so heavily on this very complicated healthcare system. We believe that this baby is a gift from God, and we know that God has an amazing plan for us and the baby.
3 comments:
you both and the baby have been in my prayers and thoughts.
I'm really glad you guys are starting a blog. This will be a great way for people to keep up with you guys, as well as seeing pictures.
I'm sorry to hear of your troubling news. Your faith is inspiring. I will be praying with you. You are in my thoughts!
Post a Comment