The course and surgical management of a complex, giant omphalocele in a term neonate

Abstract

An omphalocele is an abdominal wall defect characterized by absent abdominal muscles, fascia, and skin. Omphaloceles are frequently associated with chromosomal anomalies (∼50% risk) and malformations, as well as an increased risk of feeding difficulties, failure to thrive, reflux, and bowel obstruction. Management of omphaloceles will inevitably involve surgical closure of the defect, with a variety of potential approaches depending on the institution, defect size, and the associated findings. This case report discusses the outcomes of the multimodal surgical approach used to repair a prenatally diagnosed complex, giant omphalocele in a newborn. The uncommon cystic quality of the defect and the anatomical changes during reduction required multiple techniques to successfully close the defect in a short period of time.

KEY POINTS

• An omphalocele is a common abdominal wall defect characterized by the midline protrusion of membrane-covered abdominal contents. Omphaloceles frequently co-occur with chromosomal anomalies and extra-abdominal manifestations.

• Infants with omphaloceles are at increased risk of feeding difficulties, failure to thrive, reflux, and bowel obstruction, but many eventually achieve normal gastrointestinal function.

• Many strategies exist for closing an omphalocele defect, and occasionally a multimodal approach is necessary to facilitate a rapid closure.

CME

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CASE SUMMARY

A 3896 g female neonate was born via a planned cesarean section to a gravida 4 parity 4 mother at 37 weeks and 2 days. At 20 weeks of gestation, the fetus was found to have a giant omphalocele with associated cystic fluid. Evaluation for other congenital anomalies, including fetal echocardiography, was normal. Pregnancy and delivery were otherwise uncomplicated, and APGAR scores were 9 at both 1 and 5 minutes of life. After multiple prenatal consultations with the pediatric surgeon, the parents expressed a preference for expedited closure, despite the defect size. After delivery, the omphalocele was wrapped in warm, saline-soaked sterile gauze. The newborn was electively intubated in anticipation of the accelerated closure and transported to the neonatal intensive care unit (NICU).

Upon further examination, the giant omphalocele contained multiloculated cystic components with visceral herniation of bowel, liver, and spleen (Figure 1a). The patient was paralyzed and administered antibiotics, and nasogastric (NG) decompression was initiated. The cystic components were decompressed with an angiocatheter, removing over 500 mL of serous fluid. The defect measured 5 cm in diameter. A spring-loaded silo was sutured to the skin, and circumferential compression was applied to initiate reduction (Figure 1b). On day of life (DOL) 2, the spring-loaded silo was removed, and fascia was exposed circumferentially and mobilized. This enabled silastic plastic sheeting to be sutured circumferentially to the fascia. The silo was suspended above the patient, and tongue depressors, rubber bands, and metallic clamps provided compression (Figure 1c). The silo was reduced daily. Suture plication of the silastic plastic maintained the serial reductions and constant compression. By DOL 8, the liver was completely reduced, the silo was removed, and the defect was closed without complications (Figure 1d).

Figure 1.

(a) De novo omphalocele with cystic component. Floating within are the liver, small bowel, and spleen. (b) Initial spring silo placement after cyst drainage and peritoneal repair. Sutures anchor the silo to the skin. (c) Silastic plastic sutured directly to the skin edges. Popsicle sticks held together with rubber bands are used to gradually reduce the omphalocele contents. Metal clamps secure the device and prevent sliding. (d) Full reduction and closure, day of life 8.

Trophic feeds were initiated via NG tube on DOL 15 and were advanced as tolerated. After an unsuccessful extubation attempt on DOL 16, the patient was extubated on DOL 35 to continuous positive airway pressure and to room air by DOL 43. The infant’s microarray and renal ultrasound were normal. Serial echocardiograms revealed a small patent foramen ovale, small ventricular septal defect, and likely left partial anomalous pulmonary venous return.

The infant’s progression to full feeds was complicated. On DOL 42, pneumatosis was found on a routine abdominal x-ray despite a reassuring physical exam. Persistent findings confirmed necrotizing enterocolitis, prompting 7 days of bowel rest and antibiotics. After reintroducing enteral feeds, she presented with signs of severe gastroesophageal reflux. Extending NG feeding times and a 2-week trial of omeprazole provided minimal improvement. On DOL 71, she was switched to a 22 kcal/oz hypoallergenic amino acid–based formula for watery stools, which improved stool consistency. The infant also struggled with an apparent oral aversion, with limited improvement despite speech therapy support. Abdominal magnetic resonance imaging (MRI) was done on DOL 73 to determine the feasibility of placing a gastrostomy tube for discharge. Ultrasound and MRI revealed the liver extending past the midline and anterior to the stomach, limiting surgical access for gastrostomy tube placement. After discussions with the family, a discharge home with an NG tube was planned.

However, the infant had continued signs of severe reflux, so feeds were further extended, and erythromycin ethylsuccinate was started on DOL 80 for its prokinetic effects. On DOL 82, she became febrile with increased work of breathing, and blood cultures grew multiple gram-negative species from a central venous catheter. She was treated with 14 days of cefepime and noninvasive respiratory support.

The infant was discharged on DOL 99 on full NG feedings with follow-up planned with gastroenterology, speech therapy, and cardiology. By 4 months of age, she continued to experience some difficulty with feeding and weight gain but was completing all feeds orally with 24 kcal/oz formula. The NG tube was subsequently removed.

CLINICAL QUESTIONS

1. A 25-year-old woman with limited prenatal care delivers a term newborn with a 3-cm omphalocele. In addition to a surgical repair, what further evaluation is NOT routinely recommended?

   1. Chromosome microarray analysis

   2. Echocardiogram

   3. Renal ultrasound

   4. Skeletal survey

2. A pregnant woman with a prenatally diagnosed 6-cm omphalocele meets a pediatric surgeon to discuss the “paint and wait” approach. Which of the following is TRUE about this technique?

   1. This approach is not an option for infants with viscero-abdominal disproportion.

   2. This approach often requires prolonged mechanical ventilation.

   3. This method promotes escharization and eventual skin coverage of the abdomen before completing a delayed closure of the defect.

   4. This method is the least likely to develop an abdominal hernia compared to other repair methods.

Answers are provided at the end of the article.

DISCUSSION

An omphalocele is an abdominal wall defect characterized by the midline protrusion of membrane-covered abdominal contents. After gastroschisis, omphaloceles are the second most common congenital abdominal wall defect, with an incidence of 2.6 per 10,000 births.¹ Male infants and infants born to Hispanic mothers have a higher prevalence of the defect.^2,3 Most omphaloceles are diagnosed by prenatal ultrasound, and many occur in conjunction with other conditions.⁴ Infants with omphaloceles have >50% risk of a genetic abnormality, frequently aneuploidy syndromes, and 24% will have extra-abdominal anomalies.⁵ Upon diagnosis, omphaloceles are categorized as small when the defect is <5 cm and contains only intestine and giant when it is ≥5 cm and/or includes at least 50% of the liver in its sac. While liver involvement is not required for this classification, its degree of involvement can contribute to adverse outcomes.^6,7

While patients with an omphalocele have an increased risk of feeding difficulties, failure to thrive, reflux, and bowel obstruction, many eventually achieve normal gastrointestinal function.⁸ Instead, the presence of associated anomalies most significantly impacts prognosis, with isolated omphalocele cases having a 90% first-year survival rate.^7,8

Management of omphaloceles will inevitably involve surgical closure, with strategies varying based on defect size, viscero-abdominal disproportion, and associated findings. A primary repair may be possible in small omphaloceles, but larger defects often require a delayed, stepwise approach. Methods range from the use of staged reductions with prosthetic silos or synthetic mesh to promoting epithelialization using the “paint and wait” approach.⁷

In this case, the cystic quality of the defect and anatomical changes during reduction required a flexible, multimodal approach to close the giant omphalocele in a short period of time. The cystic component made both direct compression and the “paint and wait” approach insufficient. Thus, the decision was made to aspirate the cystic components. An accelerated closure approach was pursued based on the patient’s appropriate size, normal cardiopulmonary function, absence of additional congenital anomalies, and parental preferences. In our practice, ringed silo closure has been effective for short-term giant omphalocele closures, but by DOL 2, the silo appeared to be pushing the abdominal contents against the surrounding skin rather than into the abdomen. Our approach shifted to a silo fashioned from silastic plastic sheeting sutured to the fascia (Figure 1c). Once the abdominal contents were at the fascial level, a primary fascial closure was initiated. We did not think all of the fascia would be closed during the first attempt and were prepared for multiple operations. Fascial retention sutures were considered but ultimately unnecessary. This rare, complex giant omphalocele variant was successfully closed on DOL 8.

Following repair, the NICU course is also of interest, as it was not without complications. The prolonged respiratory support and time to introduce enteral feeds following the repair were expected. Intubation was necessary since the techniques for closure required paralysis for active stretching of the abdominal wall. Additionally, the return of the viscera into the abdomen increases intra-abdominal pressure, which can significantly impact respiratory mechanics, resulting in the necessary respiratory support and delayed transition to room air. Enteral feeds were delayed due to concern for postsurgical ileus. This delay may have contributed to the development of necrotizing enterocolitis, but this association is unclear. Additionally, it is unlikely that decompression of the cysts contributed to necrotizing enterocolitis. The primary concern during cyst decompression was the potential of introducing infections into the peritoneum; therefore, this was accomplished in a sterile fashion. Given that the fluid and cysts were seemingly external to the abdominal cavity, concern for adverse effects was minimal. Following closure, signs of abdominal compartment syndrome were monitored with serial clinical exam and urine output, both of which remained reassuring.

The patient’s difficulty tolerating oral feeds and severe gastroesophageal reflux made discharge home difficult. Erythromycin ethylsuccinate was initiated for its prokinetic effects as a motilin agonist to improve gastric emptying in neonates with gastroesophageal reflux. Although more recent studies have shown limited efficacy of erythromycin in the treatment of reflux, it was considered as a last resort given the patient’s minimal improvement with standard interventions.⁹ Additionally, the patient would have been a candidate for gastrostomy tube placement for feeding difficulties, but the spatial anatomical changes following the repair made finding a window for placement difficult with both MRI and ultrasound. Therefore, the patient went home with an NG tube and was gradually able to take feeds by mouth on her own.

While this case provides valuable clinical insight, larger studies are needed to draw conclusions regarding rapid closure outcomes in omphaloceles of a similar nature. This case may also help clinicians identify comparable cases while providing insight when counseling patients’ families.

ANSWERS TO CLINICAL QUESTIONS

Question 1, d. Infants with omphalocele have a high frequency of co-occurring anomalies, especially aneuploidy syndromes (trisomy 13, 18, 21, and Turner syndrome) and extra-abdominal manifestations. Most commonly, patients may have cardiac, gastrointestinal, or genitourinary anomalies or Beckwith-Wiedemann syndrome, pentalogy of Cantrell, or OEIS complex.^5,6 Therefore, newborns with omphaloceles should be screened for such conditions with a chromosome microarray, echocardiogram, and renal ultrasound. Notably, giant omphaloceles are less often associated with congenital defects compared to small omphaloceles.⁷ A skeletal survey would not be indicated in this scenario.

Question 2, c. In patients with giant omphaloceles or significant viscero-abdominal disproportion, the “paint and wait” approach is often used to promote gradual epithelialization, typically with topical agents such as silver sulfadiazine or povidone iodine. This approach eventually results in an abdominal wall hernia that frequently cannot be surgically closed until several months to years later.⁷

Disclosure statement/Funding

The planners and faculty for this activity have no relevant financial relationships to disclose. The authors report no funding. The patient consented to publication of this case report.