Abnormality | Covering membrane | Site of defect | Findings |
Omphalocele | Yes | Cord inserts into the apex of omphalocele membrane. | Full-thickness abdominal wall defect with covering amnion-peritoneal membrane and herniation of viscera. Liver is often herniated; stomach and spleen may also herniate. Associated abnormalities are common and include aneuploidy, additional gastrointestinal abnormalities, cardiac defects, genitourinary anomalies, orofacial clefts, neural tube defects, defects of the diaphragm, polyhydramnios, and growth restriction. |
Gastroschisis | No | Cord inserts adjacent to the abdominal wall defect. The defect is usually to the right of the umbilicus. | Full thickness and usually small abdominal wall defect on the right side of the intact and normally inserting umbilical cord with herniation of bowel, which floats in the amniotic fluid. Liver not usually herniated. Associated anatomic defects uncommon. |
Umbilical hernia | No | Defect in linea alba. Cord inserts into the hernia sac. | Loops of bowel may be seen within the umbilical cord or bulge from otherwise intact abdominal wall. |
Pentalogy of Cantrell | Yes | Cord inserts into omphalocele membrane. The associated abnormalities are cephalad to the umbilical insertion. | Pentalogy consists of:
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Body stalk anomaly (also called limb body wall complex) | Yes | Variable | Large body wall defects of the thorax and/or abdomen and limb defects. The intrathoracic and abdominal organs lie outside the cavity and are contained within a sac consisting of amnioperitoneal membrane. The umbilical cord may be extremely short or absent. Severe kyphoscoliosis is often present. Large complex cranial defects and facial clefts may also be present. Renal aplasia/dysplasia and pulmonary hypoplasia are common. Umbilical cord is short. The combination of scoliosis, omphalocele, short cord, and bizarre appearance of the fetal body suggests this diagnosis. Two key features that distinguish this anomaly from omphalocele are that the fetus appears adherent to the placenta and there is no freely floating umbilical cord. |
Bladder exstrophy | No | Cord insertion lower than normal on fetal abdomen. Abdominal wall defect is below umbilicus. | Nonvisualization of the bladder is a key finding. Visualization of a normal urinary bladder excludes the diagnosis. Classic bladder exstrophy is not associated with cranial, thoracic, umbilical, spinal, or limb defects. |
Cloacal exstrophy (also called OEIS complex: omphalocele, exstrophy of the bladder, imperforate anus, spinal defects) | Yes | Cord insertion lower than normal on fetal abdomen. Abdominal wall defect is below umbilicus. | Full thickness ventral abdominal wall defect with an omphalocele at the superior margin of the defect and exposed bowel and bladder at the inferior margin. The lower abdominal wall defect helps to distinguish cloacal exstrophy from simple omphalocele. The major findings are a solid bulging mass in the lower abdominal wall, non-visualization of the urinary bladder, and normal amniotic fluid volume. Omphalocele, meningomyelocele, lower extremity defects, renal anomalies, widened pubic arches, narrow thorax, hydrocephalus, and single umbilical artery may be observed. |
Amniotic band sequence (also called limb body wall complex) | No | Variable | Constriction rings and limb and digital amputation are common findings, but the clinical spectrum is highly variable. Craniofacial abnormalities and nonmidline body wall defects may be present. Shredded amniotic membrane may be seen. |
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