Service de gynécologie obstétrique I CHU Hassan II Fès Maroc

Case report

A 18 years old woman (G1P0), with unremarkable prenatal history was sent to our unit for discovery of an omphalocele. According to the patient, she was at the end of her pregnancy. Ultrasonography revealed an omphalocele containing the liver and intestinal loops associated with others defects and intrauterine growth restriction.

Following images show the sonographic and postnatal appearance of omphalocele:

Definition

Omphalocele, also known as exomphalos, is a midline abdominal wall defect of variable size in which bowel or liver or both herniate into the base of the umbilical cord.

Pathogenesis

Omphalocele is proposed to be a result of one or both of the following developmental errors: failure of closure of the extraembryonic coelom with persistent herniation of abdominal contents or defective fusion of the embryonic folds in the midline.

Diagnosis and sonographic finding

The classic appearance of omphalocele on sonographic exam is an anterior abdominal mass at the site of cord insertion with a covering membrane. This defect is usually identified during routine anatomy sonographic exam. However, identification in the late first trimester is possible. Before 12 weeks' gestation, large, liver containing omphaloceles can be accurately detected. ^[1] Diagnosis of small omphaloceles should be confirmed after 12 weeks' gestation, when physiologic midgut herniation has resolved. ^[2]

Differential diagnosis

Differential diagnoses include physiologic gut herniation, gastroschisis, amniotic bands, ectopia cordis and umbilical cord cyst.

Associated anomalies

Omphalocele can be associated to chromosomal anomalies (trisomy 13, 16, 18, 21…) or another congenital abnormalities like urinary or cardiovascular.

Prognosis

The prognosis depends on the size of the defect, the presence of other abnormalities and the associated complications. ^[3]

Management

There are no prenatal treatment options for omphalocele at the present time. The management of omphalocele can only be finalized after birth. Surgery is more challenging if the omphalocele is large.

References

1. Souka AP, Nicolaides KH. Diagnosis of fetal abnormalities at the 10—14-week scan. Ultrasound Obstet Gynecol. 1997;10:429-442.
2. Timor-Tritsch IE, Warren WB, Peisner DB, et al. First-trimester midgut herniation: a high-frequency transvaginal sonographic study. Obstet Gynecol. 1989;161:831-833.
3. Emanuel PG, Garcia GI, Angtuaco TL. Prenatal detection of anterior abdominal wall defects with US. Radiographics. 1995;15 (3): 517 30.prenatal and postnatal diagnosis. Ultrasound Obstet Gynecol 2010; 36: 687-692.