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Radiol Case Rep
Radiol Case Rep
Radiology Case Reports
1930-0433
Elsevier

S1930-0433(24)00794-5
10.1016/j.radcr.2024.08.015
Case Report
Prenatal diagnosis of omphalocele with extracorporeal liver
Lestari Peby Maulina pebymaulinalestari@fk.unsri.ac.id
a⁎
Bernolian Nuswil a
Mirani Putri a
Martadiansyah Abarham a
Latifah Murwani Emasrissa b
Sutrisno Muhammad Al Farisi b
Mauli Winny b
Stevanny Bella b
a Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Dr. Mohammad Hoesin General Hospital/Faculty of Medicine Sriwijaya University, Palembang, Indonesia
b Department of Obstetrics and Gynecology, Dr. Mohammad Hoesin General Hospital/Faculty of Medicine, Sriwijaya University, Palembang, Indonesia
⁎ Corresponding author. pebymaulinalestari@fk.unsri.ac.id
17 9 2024
12 2024
17 9 2024
19 12 58965899
28 5 2024
2 8 2024
4 8 2024
© 2024 The Authors
2024
https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Omphalocele is a congenital anomaly characterized by a structural defect in the abdominal wall that leads to the protrusion of the intestines or other abdominal organs covered by a protective membrane. Approximately 20%-50% of omphalocele cases are associated with trisomy 13, 18, and 21 and result in fetal death. Prenatal diagnosis of omphalocele can be made by late first trimester ultrasound with a sensitivity of 75% and specificity of 95%, or by elevated maternal serum alpha-fetoprotein concentration. Large omphaloceles (>5 cm) are generally present with extracorporeal liver (ECL) herniation, resulting from arrested lateral fold development and failure of abdominal wall closure in the first month of pregnancy. Omphalocele with ECL demonstrated a decreased incidence of congenital anomalies in comparison to those with intracorporeal liver. Nevertheless, ECL is linked to a greater number of life-threatening anatomical and amniotic volume abnormalities. We present a case of omphalocele with extracorporeal liver in 35–36 weeks' gestation and highlight the importance of defect size measurement and extracorporeal liver identification to aid prenatal counseling in making informed decisions about postnatal interventions.

Keywords

Case report
Extracorporeal liver
Omphalocele
Prenatal diagnosis
Ultrasound
Abbreviations

CT computed tomography

ECL extracorporeal liver

MRI magnetic resonance imaging
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pmcIntroduction

Omphalocele is a congenital anomaly in which the intestines or other abdominal organs protrude through a defect in the abdominal wall and are covered by a protective membrane, unlike gastroschisis, which lacks this membrane. During early development, the intestines and other abdominal organs are outside the abdominal cavity but should return by 10–12 weeks of gestation. In omphalocele, this reintegration is incomplete [[1], [2], [3]]. It is most common in male fetuses, with an incidence of 1.92 per 10,000 live births, and is often associated with a maternal age under 20 or over 35 years. Omphalocele frequently co-occurs with other anomalies, particularly heart defects (32%), and is linked to trisomies 13, 18, and 21, which can lead to fetal death [4]. Medical imaging, including prenatal ultrasound at 12-14 weeks' gestation and postnatal MRI, CT scan, and X-ray, can identify omphaloceles. Maternal amniotic fluid alpha-fetoprotein (AFP) and acetylcholinesterase levels are measured for screening [5,6].

Large omphaloceles (>5 cm) often present with extracorporeal liver herniation (ECL) due to arrested lateral fold development and failure of abdominal wall closure in the first month of pregnancy. Research on the clinical features of fetal omphaloceles, categorized by liver location, could improve parental counseling and patient care [4,5]. We report a case of large omphalocele with ECL at 38–39 weeks gestation, highlighting the importance of liver location as a prognostic marker for perinatal outcome. The patient's parents consented to the publication of this case in a scientific journal. This case is reported in accordance with the CARE 2013 criteria [7].

Case presentation

A 30-year-old multigravida woman came to our facility for her first prenatal care at 35–36 weeks of gestational age. The family history did not reveal any congenital anomalies. History of infectious diseases, medication use, and radiation exposure were all denied. Sonography revealed a 2,717-gram fetus at 35 weeks gestational age with a normal fetal heart rate of 130 bpm and an estimated fetal weight of 2,717 g. In the fetus's anterior abdominal wall, there was a 4.58 cm defect with a peritoneum-covered mass containing the intestines and part of the liver (Fig. 1). The placenta was anterior with normal amniotic fluid measurements.Fig. 1 Prenatal ultrasonography showed a 4.58 cm defect with a peritoneum-covered mass containing part of intestines (A) and liver (B) suspected of omphalocele with extracorporeal liver.

Fig 1

Elective caesarean delivery was scheduled for 38 weeks of gestation. A 2660-gram baby was delivered in good clinical condition. An omphalocele with ECL was confirmed at birth (Fig. 2). The baby was then consulted for pediatric surgery for further diagnostic testing and planning for the surgical closure of the defect.Fig. 2 Clinical picture of omphalocele with extracorporeal liver at birth.

Fig 2

The large defect causes significantly the risk of infection. Upon follow-up 7 days after delivery, it was discovered that the infant had developed pneumonia and was subsequently administered intravenous antibiotics for treatment. A postnatal echocardiogram was performed, revealing the existence of tetralogy of Fallot.

Discussion

While there is agreement on the prenatal classification among experts, large omphaloceles are generally considered to occur when the sac is >5 cm. The significance of this evaluation is found in the related complications. As the size of the hernia increases, there is a higher probability of abdominal compartment syndrome, difficulties in surgical correction, and pulmonary hypoplasia. While the diagnosis is mostly made through clinical examination, prenatal ultrasonography is also useful as it may estimate the size of the defect inside the uterus and its position relative to the fetal abdomen, which can assist in the determination of an appropriate surgical closure method [8]. In our case, the defect size is almost 5 cm, causing hernias of the liver and intestine.

Omphalocele was caused by disruptions in the formation of the front part of the abdominal wall at the embryogenesis stage. In the early stages of embryogenesis, the primitive intestine usually undergoes normal physiological herniation, but in this case, there was a failure to rotate the intestine back into the abdominal cavity. This results in herniation of the intestine and other organs through an anterior abdominal wall defect [1,2]. Ultrasound examination results showed a defect in the anterior abdominal wall with herniation of the intestine and liver, which was suspicious for extracorporeal omphalocele. This is in accordance with the findings showing disturbances in the incomplete development of the anterior abdominal wall during the embryogenesis stage.

Complications of omphaloceles can occur before and during delivery, with the risk of rupture of large omphaloceles and liver damage. Most infants affected by omphalocele have small chest cavities and varying degrees of lung hypoplasia, requiring mechanical ventilation until the lungs mature. These babies often require intravenous nutrition, which can cause liver complications. Repair of large omphaloceles is often done in stages and may require a tracheostomy. After surgery, complications include difficulty feeding, failure to thrive, inguinal hernia, gastroesophageal reflux, and sometimes esophagitis. Mortality in cases of omphalocele is much higher than in cases of gastroschisis [9]. In our case, the finding of omphalocele is isolated with no other congenital anomalies found, and no complication is observed.

The choice of termination procedure for babies with omphalocele is based on the size of the omphalocele and the baby's clinical condition. In small omphaloceles, vaginal delivery may be considered. However, for large omphaloceles, a cesarean section should be performed to prevent complications such as omphalocele rupture, liver damage, and dystocia [5,6]. In our case, elective cesarean delivery was done to prevent intrapartum complications.

Omphalocele treatment is determined by various criteria, such as the size of the defect, the existence of other congenital malformations and/or genetic disorders, as well as the gestational age of the infant at the time of diagnosis. The surgical approach differs accordingly. In cases of small or minor omphaloceles, surgery is usually performed immediately after birth, in which the contents of the omphalocele are reduced and the defect is primarily closed. In the case of larger or major omphaloceles, the repair procedure may be conducted gradually, starting with the placement of a nonadherent bandage to cover the exposed organs. Over time, the organs are gradually repositioned back into the abdomen before being surgically closed. Associated anomalies, such as Beckwith-Wiedemann syndrome or congenital heart disease, are carefully examined. Administering intravenous fluids, covering the defect with a nonadherent bandage, and maintaining the baby's temperature are the initial treatments for omphalocele. Prophylactic antibiotics are given before surgery. The closure of large omphaloceles with ECL is particularly challenging, and various surgical methods are available as choices [10]. Several factors, including the extent of the omphalocele, the existence of other congenital abnormalities, the presence of ECL, and the response to medical care and medical procedures that may be required after birth [10,11]. Omphalocele with ECL demonstrated a decreased incidence of congenital anomalies in comparison to those with intracorporeal liver. However, in our case, the omphalocele was accompanied by the coexistence of cardiac defect, i.e. tetralogy of Fallot. Nevertheless, ECL is linked to a greater number of life-threatening anatomical and amniotic volume abnormalities [11]. Performing prenatal diagnostics by accurately measuring the defect size as well as carefully locating the liver in cases of omphalocele is crucial. The presence of ECL acts as a predictive indicator for perinatal outcomes and can assist in providing prenatal counseling for making informed decisions about postnatal interventions.

Conclusion

We present a case of omphalocele with extracorporeal liver. This case highlights the importance of defect size measurement and extracorporeal liver identification to aid prenatal counseling in making informed decisions about postnatal interventions.

Author contribution

Conceptualization, PML, NB, PM, AM; validation, NB, PM, AM, MEL, MAFS, WM; writing—original draft preparation, PML; writing—review and editing, NB, PM, AM, MEL, MAFS, WM,BS; data curation, PML; funding acquisition, PML; methodology, PML, NB, PM, AM; formal analysis, BS; software, BS; visualization, BS and PML; supervision, NB, PM, AM, MEL. MAFS, WM; project administration, PML. All authors have read and agreed to the published version of the manuscript.

Patient consent

Written informed consent for the publication of this case report was obtained from the patient.

Acknowledgments: We would like express our gratitude to all the professors and colleagues from the Faculty of Medicine at Universitas Sriwijaya, Palembang, for their valuable contributions and insightful discussions in the making of this research article.

Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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