Pentalogy of Cantrell with Abnormal Posterior Fossa in the First Trimester Anomaly Scan

In the first trimester anomaly scan many major abnormalities can already be diagnosed. Pentalogy of Cantrell is a rare form of thoraco-abdominal-wall defect, consisting of the association of five features: midline epigastric abdominal wall defect, lower sternal defect, anterior diaphragmatic defect, diaphragmatic pericardium defect and intracardiac defects. Pentalogy of Cantrell can also be associated with other abnormalities, including craniofacial abnormalities, spine and limb defects, malrotation of the colon and chromosomal abnormalities. The authors report a case of Pentalogy of Cantrell associated with abnormal posterior fossa and spine defect diagnosed at the 12 weeks scan. Pentalogy of Cantrell is a rare but easily feasible diagnostic in the first trimester. There are reports of many other abnormalities associated to the condition, worsening the prognosis, yet posterior fossa abnormality has not been previously described to be associated to Cantrell's complete form. Diagnosis of fetal abnormalities in the first trimester gives the option of an earlier and safer termination of pregnancy.