genetic disorder

  I learned that a friend of mine just found out that her unborn has a disorder called "omphacele"...i hope that I am spelling it correctly.  I guess the liver is on the outside of the body, the amniocentesis came back ok, the heart is not good, a hole of some sort located in the heart.  I am trying to find info on-line for her.  She is due in 4 months and has decided to go ahead and have the baby, even though her DR. recommended abortion.  Can you help?
Dear Donna:
Omphalocoele is a developmental problem wherein the muscles and skin of the abdominal wall (front wall of the belly) do not form. The internal organs form correctly; they are in a sac outside the abdomen.
This condition is recognized during an ultrasound examination. Follow up should include a consultation with an expert in genetics or maternal fetal medicine along with a neonatologist (pediatrician for newborns with problems) to understand all of the challenges at birth. Babies with significant developmental problems should be born at a medical center that has all of these experts available.
If you are in the greater Detroit area, HFHS is a resource for care: Genetics appointments, 313-876-3188.
This material is provided for educational purposes only and should not be considered a formal medical evaluation. If your have specific questions, please contact your primary physician.