Prenatal diagnosis of pentalogy of Cantrell

Objective 

The pentalogy of Cantrell is an extremely rare heterogeneous thoracoabdominal wall closure defect with an estimated prevalence of 1 per 65,000 to 200,000 live births. Here, we aimed to present a rare case of Cantrell pentalogy in a first trimester pregnant woman.

Case(s)

In the ultrasonographic examination of a 26-year-old G1P0 patient who had pregnancy at 13+0 weeks of gestation according to her last menstrual period (LMP), anterior abdominal and anterior thoracic walls were not seen in the fetus and it was observed that heart and liver protruded through large supraumbilical omphalocele at the midline defect and there were cystic hygroma, extreme deformities of the vertebral column (thoracolumbar) (Figure 1, 2). Ultrasonographic findings supported Cantrell pentalogy. Genetic and obstetric counseling were given to the family. The family wanted to terminate the pregnancy due to poor prognosis and low survival rate. The patient was admitted to the clinic to be performed termination of the pregnancy and the induction of the labor was initiated by administration of single dose of misoprostol. The patient had a medically induced late abortion 12 hours after initiation of the induction. Gross examination of the fetus performed after abortion revealed a midline defect including supraumbilical anterior abdominal and anterior thoracic walls was present, heart and intraabdominal organs protruded through this defect and there were cystic hygroma, extreme deformities of the vertebral column (thoracolumbar) (Figure 3). A dermal biopsy was performed for evaluation of fetal karyotype and the fetus was determined to be 46 XY. The patient not determined to have an abnormal finding during follow-ups performed after abortion was discharged.

Results

Cantrell pentalogy which has been first described by Cantrell et al. in 1958 is a rare thoracoabdominal development disorder including abdominal wall, diaphragmatic, pericardial, sternal and heart defects. As it could be differences in the anomalies described in the syndrome, various accompanying anomalies were also reported in the literature. Toyama et al. divided Cantrell pentalogy into 3 categories in 1972: These were defined as followings: group 1, exact diagnosis with presence of all defects together; group 2, probably diagnosis with presence of only 4 defects together; group 3, incomplete diagnosis with various combinations of defects. In our case, all of five anomalies and malformations specific to the syndrome were determined.

Conclusion 

In conclusion, early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. The termination of the pregnancies with fetuses having high mortality will be easier in case of presence of particularly omphalocele and ectopia cordis and when they are detected in earlier gestational weeks.

Keywords

Cantrell pentalogy, omfalosel, ectopia cordis

	File/Dsecription
	Figure 1 Large omphalocele and ectopia cordis are seen in color Doppler sonography
	Figure 2 Sonographic appearance of lumbar lordoscoliosis
	Figure 3 Postmortem photo of case showed large omphalocele and ectopia cordis