A 19-year old patient, with no significant history. She was referred for delayed growth on a pregnancy of 37 weeks of gestational age associated with oligohydraamnios. Screening ultrasound revealed an omphalocele of 5x3 cm with no other anomalies. The delivery was uneventful and the baby is still alive.
Following images show ultrasound and postnatal findings.
Images 1, 2: 2D and doppler images showing an abdominal wall defect at the level of the insertion of the umbilical cord with herniated abominal organs at 37 weeks of gestational, with oligoamnios associated.
Image 3: Postnatal images confirmed the suspected diagnosis of omphalocele.
Definition: An omphalocele is an abdominal wall defect believed to result from a folding abnormality during development.
Prevalence : It affects 2,5 out of 10000 live birth and has a higher incidence if abortions and stillbirths are considered .
Pathogenesis : It is due to an abnormality of the folding of the embryonic sides intended to form the abdominal wall.
Sonographic findings : Diagnosis is possible at the end of the 1st trimester and the 2nd trimester on 3 criteria :
- A presence of an anterior median mass of the abdominal wall presenting a net contour because limited by a membrane
- The mass contains the herniated intra-abdominal organs (liver, intestine, stomach)
- Insertion of the cord on the malformation
Differential diagnosis : Gastroschisis, physiological gut herniation, umbilical cord cyst, placental chorioangioma, umbilical hernia.
Associated anomalies :
- Aneuploidies found in 30 to 40% of cases: Trisomy 18 - Trisomy 13 and trisomy 21 and Triploidy.
- Genetic syndromes characterized by the presence of omphalocele:
Beckwith-Wiedemann Syndrome, Cantrell Pentalogy, OEIS complex
- Anomalies associated with omphalocele (in 25 to 30% of cases) : cardiac abnormalities: represent 50% of anomalies associated with omphalocele; gastrointestinal abnormalities (40%), diaphragmatic hernia, musculoskeletal abnormalities, urogenital abnormalities; achondrogenesis, anomalies of the nervous system.
Prognosis : Depends on the size of the parietal opening, the size of the omphalocele, and especially the associated abnormalities.
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