Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb. 1. Introduction Many cases of pentalogy of Cantrell (PC) have been reported since the first case which was defined by Cantrell and colleagues in 1958 [1]. The initial syndrome was diagnosed as a pentad including midline supraumbilical abdominal wall defects, deficiency of the anterior diaphragm, defects of the lower sternum, defects of the diaphragmatic pericardium, and congenital intracardiac abnormalities. Variable cardiac anomalies have been reported and among the anomalies, ventricular septal defects, atrial septal defects, or other abnormalities are the most common reported. We have reviewed the published literature on PC and reported a twin case with the diagnosis of PC and a normal fetus. 2. Case Report A 20-year-old gravida 1, para 0, abortus 0 pregnant woman was admitted to our perinatology unit with the suspicion of ectopia cordis in a twin pregnancy at the 12th week of gestation. She was performed transvaginal ultrasound scan and the scan revealed a dichorionic-diamniotic twin pregnancy. Crown-rump lengths were 48？mm and 46？mm corresponding to 11 + 5 weeks and nuchal translucencies were 1.2 and 1.6？mm, respectively. Ultrasound scan of the first twin revealed ectopia cordis and a large defect with protruding liver and bowel loops (Figure 1). The second twin was ultrasonographically normal. The diagnosis of PC was suspected after exclusion of limb body wall complex (LBWC), amniotic band syndrome, and body stalk anomaly. The parents were informed about the syndrome and the prognosis and were offered selective feticide procedure. They chose to continue the pregnancy without any intervention. A 1–3 apgared 1000？gr female fetus and a 7-8 apgared 2500？gr male fetus were born by a cesarean section at 37 weeks of gestation. The macroscopic observations were ectopia cordis, extrusion of the abdominal organs without