- About 120,000 babies (1 in 33) in the United States are born each year with birth defects.
- Thousands of different birth defects have been identified, from the fairly common to extremely rare.
- The most common birth defects include heart defects (1 in 100), cleft lip/palate (1 in 700), down syndrome (1 in 800), and spina bifida (1 in 2500). Other common birth defects include musculoskeletal defects, gastrointestinal defects, and eye defects.
We will know much more on Monday, but here's what we know right now:
- Our first (15 week) ultrasound revealed that our baby most likely has an omphalocele.
- An omphalocele is a transparent sac attatched to the umbilical cord that contains hernatied abdominal organs (most commonly liver and intestines).
- This birth defect occurs in 1 out of every 4000 births worldwide.
- The intestines actually form INSIDE the umbilical cord until gestational week 10 or 11. After this time, they normally retreat back into the abdominal cavity and the abdominal muscles and wall closes up. In omphalocele babies, however, the abdominal muscles and/or wall fails to close properly, leaving some abdominal organs outside of the body, in/attatched to the umbilical cord.
- Omphaloceles have associated malformations in almost 2/3 of all cases
- Approximately 25% have associated chromosomal abnormalities, especially Trisomies 13 and 18
Monday, I have a meeting with a geneticist, a more advanced ultrasound, and an amnio. Hopefully, I will leave the hospital that day with a much clearer picture of what is going on with this baby. And hopefully Peanut will be one of the lucky 30(ish) percent who are completely normal and healthy in every other way, other than the omphalocele. I'm incredibly nervous but also looking forward to the visit.
Wish us luck!