Spectrum of Cantrell's Pentalogy: Case Series from a Single Tertiary Care Center and Review of the Literature

The pentalogy of Cantrell (PC) was first described in 1958. It includes five anomalies: a deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities, and a defect of the lower sternum. Five patients showing the PC spectrum are reported. The report presents the prenatal diagnosis, the postnatal course, and the patients' outcome at a tertiary care center from June 2001 to May 2012. A literature review and the management plan for this group of patients also are discussed. All patient data were obtained via electronic medical records retrospectively after approval by the institutional review board at the home institution. The patients in the study were three males and two females. For all of the patients, a prenatal diagnosis had been determined. The mean gestational age at delivery was 36.6 weeks. One patient had associated cranial and spine malformations. All the patients had associated congenital heart disease but a normal karyotype. Four of the five patients died in the first year of life. The ages at death ranged from 0 to 259 days (mean, 46.2 ± 51.8 days). The patients who did not survive had withdrawal of care due to increased morbidity, associated complications, or parental wishes. The pentalogy of Cantrell is a wide spectrum of associations. Patients with the complete PC together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Incomplete PC cases may have a better outcome based on associated anomalies. Prenatal counseling plays a very important role in the decision-making process for the families and has a significant impact on the postnatal management. A multidisciplinary team approach is essential for successful postpartum outcomes.