Prenatal diagnosis of pentalogy of Cantrell using three-dimensional ultrasound

Abstract

In 1958, Cantrell et al [1] described a syndrome called the pentalogy of Cantrell (POC), consisting of deficiency of the anterior diaphragm, midline supraumbilical abdominal wall defect, defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and defect of the lower sternum. Although prenatal detection of POC has been reported previously, to date no prenatal illustration of POC by threedimensional (3D) ultrasound (US) has been described [2]. The application of 3D US in malformations, especially in the evaluation of small parts, appears to assist in prenatal diagnosis and to be clinically useful. The multiplanar planes proved most helpful in delineating the exact nature and anatomic level of the defect [3]. Here, we reported two cases of POC with different presentation diagnosed using two dimensional (2D) and three dimensional (3D) ultrasound (US). Case 1: A 19-year-old woman, gravida 1, para 0, was transferred to our hospital because of fetal congenital anomaly at 15 weeks of gestation. US revealed a crownerump length of 87.3 mm and the fetal heart outside the thorax by Doppler US. Omphalocele and marked spinal curvature were also observed (Fig. 1). After discussion with the patient and family, they decided on termination of the pregnancy. The thoracoabdominal ectopia cordis, left cleft sternum and abdominal wall defect, omphalocele, scoliosis, umbilical cord cyst, and polydactyly of the left hand were grossly observed in the arbutus (Fig. 2). The histopathologic examination at autopsy demonstrated the previously mentioned findings and left diaphragm deficiency with internal organs exposure. Microscopically, the internal organs were well developed. Moreover, the abortus revealed normal female karyotype. Case 2: A 32-year-old woman, gravida 1, para 0, was also transferred to our hospital for fetal abdominal wall defect at 13