My Baby Has an Omphalocele
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published CDC, NIH, Children's Hospital guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect has an omphalocele, here is what the evidence says.
The short answer
An omphalocele is a birth defect where abdominal organs (intestines, liver, or other organs) protrude into the base of the umbilical cord, covered by a thin membrane. It differs from gastroschisis in that the organs are covered by a protective sac and the defect is located at the umbilicus. Omphalocele is associated with chromosomal abnormalities and cardiac defects in up to 50% of cases, so thorough genetic testing and cardiac evaluation are recommended. Small omphaloceles are repaired surgically soon after birth, while giant omphaloceles may require staged repair.
Key takeaways
- An omphalocele is a birth defect where abdominal organs (intestines, liver, or other organs) protrude into the base of the umbilical cord, covered by a thin membrane. It differs from gastroschisis in that the organs are covered by a protective sac and the defect is located at the umbilicus. Omphalocele is associated with chromosomal abnormalities and cardiac defects in up to 50% of cases, so thorough genetic testing and cardiac evaluation are recommended. Small omphaloceles are repaired surgically soon after birth, while giant omphaloceles may require staged repair.
- Usually normal when: The omphalocele was diagnosed prenatally and you are being monitored by a maternal-fetal medicine specialist and pediatric surgeon
- Call your doctor if: Your baby has bilious (green) vomiting, which could indicate a bowel obstruction
- Varies by age — see the age-by-age breakdown below
“Fever itself is not an illness — rather, it is a sign or symptom that the body is fighting an infection. Fever stimulates certain defenses, such as the white blood cells, which attack and destroy invading bacteria.”
Parents everywhere have the same worry. You are doing the right thing by looking into it.
What Parents Should Know
According to CDC, NIH, Children's Hospital guidelines, an omphalocele is a birth defect where abdominal organs (intestines, liver, or other organs) protrude into the base of the umbilical cord, covered by a thin membrane. It differs from gastroschisis in that the organs are covered by a protective sac and the defect is located at the umbilicus. Omphalocele is associated with chromosomal abnormalities and cardiac defects in up to 50% of cases, so thorough genetic testing and cardiac evaluation are recommended. Small omphaloceles are repaired surgically soon after birth, while giant omphaloceles may require staged repair. At Prenatal, omphalocele is typically detected on prenatal ultrasound during the anatomy scan at 18-20 weeks. Because of the strong association with chromosomal abnormalities (such as trisomy 13, 18, or 21) and Beckwith-Wiedemann syndrome, amniocentesis or other genetic testing is usually recommended. A fetal echocardiogram is performed to evaluate for associated cardiac defects. Delivery is planned at a facility with NICU and pediatric surgery capabilities. Cesarean section may be recommended for giant omphaloceles to avoid rupturing the sac. It is generally considered normal when the omphalocele was diagnosed prenatally and you are being monitored by a maternal-fetal medicine specialist and pediatric surgeon. However, you should contact your pediatrician promptly if your baby has bilious (green) vomiting, which could indicate a bowel obstruction.
Normal vs. Concerning
When to Seek Immediate Care
- Your baby has bilious (green) vomiting, which could indicate a bowel obstruction
- Your baby has signs of infection at the surgical site or the omphalocele sac: redness, warmth, drainage, or fever
- Your baby develops breathing difficulty, especially if associated heart defects are present
- The omphalocele membrane ruptures or appears to be breaking down, exposing organs
- Your baby has a distended abdomen with vomiting and stops passing stool
By Age
What to expect by age
Prenatal
Omphalocele is typically detected on prenatal ultrasound during the anatomy scan at 18-20 weeks. Because of the strong association with chromosomal abnormalities (such as trisomy 13, 18, or 21) and Beckwith-Wiedemann syndrome, amniocentesis or other genetic testing is usually recommended. A fetal echocardiogram is performed to evaluate for associated cardiac defects. Delivery is planned at a facility with NICU and pediatric surgery capabilities. Cesarean section may be recommended for giant omphaloceles to avoid rupturing the sac.
0-1 week
After birth, the omphalocele sac is kept moist and protected. The baby is evaluated for associated anomalies, including heart defects, kidney problems, and genetic conditions. For small omphaloceles, primary surgical closure (pushing the organs back in and closing the abdominal wall) may be performed within the first days of life. For giant omphaloceles (containing liver), staged repair is often needed. One approach is "paint and wait" - applying topical agents to the sac to allow skin to grow over it gradually.
1-4 weeks
If primary closure was done, recovery follows a similar timeline to gastroschisis - the bowel gradually starts functioning and feeds are introduced slowly. For babies with the paint-and-wait approach, the sac is treated daily and monitored closely. Any associated conditions such as cardiac defects may require their own management or surgical intervention during this period. Your baby will remain in the NICU for close monitoring.
1-12 months
Babies with small omphaloceles and no major associated conditions often do well after repair. Those with giant omphaloceles or significant associated anomalies may need additional surgeries and longer hospital stays. A ventral hernia (weakness at the repair site) is possible and may need future repair. Your baby will be followed by pediatric surgery, cardiology (if heart defects are present), genetics, and pediatrics. Growth and feeding are monitored closely.
1 year+
Long-term outcomes depend largely on the size of the omphalocele and associated conditions. Isolated small omphaloceles have excellent outcomes. Children with associated chromosomal conditions will need ongoing developmental support. Those with Beckwith-Wiedemann syndrome require monitoring for overgrowth and tumor risk. Many children go on to lead healthy lives. Abdominal wall repair may continue to be refined as the child grows.
What to Tell Your Pediatrician
- Describe when you first noticed has an omphalocele and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you have questions about genetic testing results or what they mean for your baby.
- Mention if your baby seems to have feeding difficulties or is not gaining weight well after discharge.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- The omphalocele was diagnosed prenatally and you are being monitored by a maternal-fetal medicine specialist and pediatric surgeon
- Your baby has had successful surgical closure and is recovering in the NICU
- Genetic testing and cardiac evaluation have been completed and results have been discussed with your team
- Your baby is feeding well and growing after discharge
- You have questions about genetic testing results or what they mean for your baby
- Your baby seems to have feeding difficulties or is not gaining weight well after discharge
- You notice a bulge at the surgical repair site, which may indicate a ventral hernia
- You are concerned about your baby meeting developmental milestones
- Your baby has bilious (green) vomiting, which could indicate a bowel obstruction
- Your baby has signs of infection at the surgical site or the omphalocele sac: redness, warmth, drainage, or fever
- Your baby develops breathing difficulty, especially if associated heart defects are present
- The omphalocele membrane ruptures or appears to be breaking down, exposing organs
- Your baby has a distended abdomen with vomiting and stops passing stool
What You Can Do at Home
- Keep track of when you notice has an omphalocele — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that the omphalocele was diagnosed prenatally and you are being monitored by a maternal-fetal medicine specialist and pediatric surgeon — this is generally within the range of normal.
- At Prenatal, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your baby has bilious (green) vomiting, which could indicate a bowel obstruction.
Related Conditions
My Baby Has Gastroschisis
Gastroschisis is a birth defect where the baby's intestines (and sometimes other organs) extend outside the body through a hole in the abdominal wall, usually to the right of the umbilical cord. Unlike omphalocele, there is no protective membrane covering the organs. It is typically detected on prenatal ultrasound around 18-20 weeks. Surgical repair is performed within hours of birth, and the majority of babies do very well after treatment.
20-Week Anatomy Scan Unexpected Findings
The 20-week anatomy scan checks your baby's major organs, structures, and growth. Most scans are completely normal. When unexpected findings are identified, they range from minor variants that resolve on their own to conditions that need further evaluation. Many findings require nothing more than a follow-up ultrasound to confirm the baby is developing well.
Related Resources
Frequently asked questions
Is has an omphalocele normal?
When should I call the doctor about has an omphalocele?
When is has an omphalocele normal?
What causes has an omphalocele?
What should I mention to my pediatrician about has an omphalocele?
Is has an omphalocele normal at Prenatal?
Is has an omphalocele normal at 0-1 week?
Should I go to the ER for has an omphalocele?
Does has an omphalocele go away on its own?
References
- [1]Centers for Disease Control and Prevention. Facts about Omphalocele. Birth Defects, 2024. CDC
- [2]National Institutes of Health. Omphalocele. Genetic and Rare Diseases Information Center (GARD), 2024. NIH
- [3]Cincinnati Children's Hospital. Omphalocele: Diagnosis and Treatment. Children's Hospital
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss My Baby Has an Omphalocele.
Things to mention
- Describe when you first noticed has an omphalocele and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you have questions about genetic testing results or what they mean for your baby.
- Mention if your baby seems to have feeding difficulties or is not gaining weight well after discharge.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- You have questions about genetic testing results or what they mean for your baby
- Your baby seems to have feeding difficulties or is not gaining weight well after discharge
- You notice a bulge at the surgical repair site, which may indicate a ventral hernia
Urgent signs to report immediately
- Your baby has bilious (green) vomiting, which could indicate a bowel obstruction
- Your baby has signs of infection at the surgical site or the omphalocele sac: redness, warmth, drainage, or fever
- Your baby develops breathing difficulty, especially if associated heart defects are present
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members
Related Resources
Bottom line
Most cases of has an omphalocele are normal. Talk to your pediatrician if your baby has bilious (green) vomiting, which could indicate a bowel obstruction.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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Related Medical Concerns
My Baby Has Gastroschisis
Gastroschisis is a birth defect where the baby's intestines (and sometimes other organs) extend outside the body through a hole in the abdominal wall, usually to the right of the umbilical cord. Unlike omphalocele, there is no protective membrane covering the organs. It is typically detected on prenatal ultrasound around 18-20 weeks. Surgical repair is performed within hours of birth, and the majority of babies do very well after treatment.
20-Week Anatomy Scan Unexpected Findings
The 20-week anatomy scan checks your baby's major organs, structures, and growth. Most scans are completely normal. When unexpected findings are identified, they range from minor variants that resolve on their own to conditions that need further evaluation. Many findings require nothing more than a follow-up ultrasound to confirm the baby is developing well.
My Baby's Head Shape Looks Abnormal
Many babies develop temporary head shape irregularities that are completely normal. A cone-shaped head from vaginal delivery reshapes within days. Mild positional flattening (plagiocephaly) from sleeping on the back is very common and usually improves with repositioning and tummy time. However, head shape changes involving ridges, a persistently bulging fontanelle, or rapid head growth changes should be evaluated to rule out craniosynostosis.
Achondroplasia (Dwarfism) in Babies
Achondroplasia is the most common form of short-limbed dwarfism, affecting about 1 in 15,000 to 40,000 births. It is caused by a mutation in the FGFR3 gene and is usually apparent at birth with characteristic features including short limbs, a larger head, and a prominent forehead. Intelligence is normal. With monitoring for specific complications and supportive care, children with achondroplasia lead full, active, and independent lives.
Adenoid Hypertrophy and Breathing
Adenoids are lymphoid tissue located behind the nose that help fight infection in young children. When adenoids become enlarged (adenoid hypertrophy), they can block the nasal airway, causing chronic mouth breathing, snoring, nasal speech, and sleep-disordered breathing. Enlarged adenoids are most common between ages 2-7 and are a leading cause of obstructive sleep apnea in young children. Treatment ranges from watchful waiting and nasal steroids to surgical removal (adenoidectomy) if breathing or sleep is significantly affected.
Adrenoleukodystrophy (ALD) in Babies
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting about 1 in 17,000 newborns, caused by mutations in the ABCD1 gene on the X chromosome. It primarily affects boys and impairs the breakdown of very long-chain fatty acids (VLCFAs), which accumulate and damage the myelin sheath in the brain and the adrenal glands. The most severe form, cerebral ALD, typically affects boys between ages 4-10 with rapid neurological decline. Newborn screening now enables early detection, and hematopoietic stem cell transplant or gene therapy performed before significant brain involvement can be life-saving.