KidsMD Health Topics

Omphalocele

  • Overview

    Parents of a child with an omphalocele

    An omphalocele is a birth defect in which some of your baby's abdominal organs protrude through an opening in her abdominal muscles in the area of her umbilical cord.

    • A translucent membrane covers the protruding organs.
    • The omphalocele may be small, with only a portion of your baby's intestine protruding outside the abdominal cavity.
    • It can also be larger, with most of your baby's abdominal organs (including intestine, liver and spleen) present outside the abdominal cavity.
    • Also, your baby's abdominal cavity itself may be small due to underdevelopment during pregnancy.

    One mother's story

    Read more about a family's experience when they learned their son had an omphalocele.

    Boston Children's Hospital 
    300 Longwood Avenue
    Boston MA 02115

     617-355-6058
  • In-Depth

    What causes an omphalocele?

    We don't really know. Steps that normally happen in the development of the abdominal organs and muscles simply did not happen properly. It is not known to be caused by anything the mother did during pregnancy.

    So how does it happen?

    As a fetus is growing in the mother's uterus before birth, different organ systems are developing and maturing. Between the sixth and the tenth weeks of pregnancy, the intestines actually project into the umbilical cord as they are growing. By the eleventh week of development, the intestines should return to the abdomen.

    An omphalocele occurs when the abdominal organs do not return to the abdominal cavity as they should.

    Who is at risk for developing an omphalocele?

    Many babies born with an omphalocele also have other abnormalities.

    • Thirty percent have a genetic abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome or triploidy.
    • Some infants with omphalocele have a syndrome known as Beckwith-Wiedemann syndrome.
    • More than half of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system and limbs.

    When an omphalocele is isolated (no other birth defects are present), the risk for it to happen in a future pregnancy is one percent or one in 100. There are some families that have been reported to have an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for reoccurrence would be higher.

    How often does an omphalocele occur?

    • "Small" type omphalocele (involving protrusion of a small portion of the intestine only) - one out of every 5,000 babies
    • "Large" type omphalocele (involving protrusion of the intestines, liver, and other organs) - one out of every 10,000 babies.
    • More boys than girls are affected with omphalocele.

    Why is an omphalocele a concern?

    Since some or all of the abdominal organs are outside the body, infection is a concern, especially if the protective membrane around t gans breaks. Also, an organ may lose its blood supply if it becomes pinched or twisted. A loss of blood flow can damage the affected organ.

  • Tests

    How is an omphalocele diagnosed?

    Omphalocele can often be detected on fetal ultrasound in the second and third trimesters of pregnancy.

    • A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born.
    • After birth, the omphalocele will be seen by your child's physician during the physical examination.
    • X-rays may be done after birth to evaluate abnormalities of other organs or body parts.
  • How is an omphalocele treated?

    It depends on the size and severity of your child's omphalocele.

    • "Small" omphalocele- Shortly after birth, an operation is done to return your baby's organs to the abdomen and close the opening in the abdominal wall.
    • "Large" omphalocele - The repair is done in "stages" and may include the following:
      • Sterile, protective sheeting is placed over your baby's abdominal organs.
      • Because the abdomen may be small and underdeveloped, it may not be able to hold all of it gains at once.
      • Therefore, the exposed organs are gradually moved back into the abdomen over several days or weeks.
      • The abdominal wall is closed surgically once it gains have been returned to the abdominal cavity.

    Because the abdominal cavity may be small and underdeveloped, and t gains may be swollen, a baby may have breathing difficulties as t gains are returned to the abdomen. Your baby may need help from a breathing machine called a mechanical ventilator while the swelling is decreasing and the size of the abdominal cavity is increasing.

    What is the long-term outlook for a baby born with an omphalocele?

    Babies who have damage to the intestines or other abdominal organs may have long-term problems with digestion, elimination, and infection.

    Whether your baby has problems in the future often depends on:

    • the size of the omphalocele
    • if there was a loss of blood flow to part of the intestine or other organs
    • the extent of other abnormalities

    Your baby's physician will best be able to give you an accurate prognosis.

  • Your Story

    Sarah Doyle

    I’m sure that I’m one of many parents who credit Children’s Hospital Boston with having saved their child’s life. But I don’t think many parents have had an experience quite like ours. Aidan was born in April of 2007, with a giant omphalocele, a defect in which the abdominal organs develop within the umbilical cord, outside of the abdomen. This only occurs in an estimated 1 in 2,500 pregnancies. The defect was detected during a routine ultrasound at 20 weeks gestation.

    It’s pretty hard news to take when you are told your unborn child has a life threatening defect, and that the defect may be associated to chromosomal abnormalities or that other anomalies may be present. We thought ourselves lucky; the omphalocele appeared to be isolated, and his chances of survival seemed pretty good.

    Read more about this family’s experience: http://childrenshospitalblog.org/one-mothers-story-pentalogy-of-cantrell/

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