Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair

Abstract

Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair.

Pentalogy of Cantrell

“…[ 5 6 ] Postnatal diagnosis of POC is clinical; however, the details of composite anomalies are aided with ultrasonography, echocardiography, computerized tomographic scanning, and MRI. [ 3 4 7 ]…”

“…[ 4 ] Postnatally, repairs could be single or multistaged, immediate, or delayed. [ 4 5 6 7 8 ] Case 1 had a repair at 1 year, whereas case 2 had an immediate repair on the 4 th day of life.…”

Omphalocele—What should we tell the prospective parents?

“…The level of in‐folding at which the error occurs determines the location of the omphalocele 5 . Incorrect cephalic in‐folding results in an epigastric omphalocele, such as those seen in pentalogy of Cantrell 6 . Errors in lateral in‐folding cause midline omphaloceles, those most commonly seen in clinical practice.…”

“…46 Not all cases have all five factors and some are associated with anomalies of other organ systems. The prenatal prognosis is often dependent on the degree of cardiac malformations and pulmonary hypoplasia, and as such, mortality can be as high as 50%–80% 6 46 This condition usually occurs sporadically, but in rare instances has been associated with chromosomal aneuploidy (trisomy 13,18, 21, Turner syndrome), Goltz–Gorlin syndrome and microduplication of 15q21.3 46…”

Pentalogía de Cantrell: reporte de un caso postmortem.

“…El diagnóstico ecográfico prenatal puede realizarse con ecografía 2D o 3D, entre las semanas 12 y 14 y entre las 19 y 24 semanas de gestación. Además el uso de resonancia magnética nuclear in útero o en el recién nacido para visualizar los defectos y precisar el pronóstico (2,3) . El pronóstico varía de acuerdo a la complejidad de las anomalías y la posición del corazón.…”