Prenatal diagnosis of Pentalogy of Cantrell; A case report.
Pentalogy of Cantrell
A 21-year-old female (gravida 1, para 0) was transferred from an outside facility for prenatal check up and ultrasound. There was no history of smoking or illicit drug use. She had no history of diabetes mellitus, hypertension, or any other major illness.
Ultrasound revealed a single live intrauterine foetus with mean gestational age of 34 weeks and five days, with normal amniotic fluid index. A large midline supraumbilical abdominal wall defect was seen through which heart and liver were seen herniating anteriorly (Fig.1a,1b,2a,2b). Two vessel umbilical cord was seen attached to the inferior margin of abdominal wall defect (Fig.3a,3b). The heart was four chambered and placed ectopically outside the thoracic cavity. The great vessels were arising from the heart and entering into the thoracic cavity. A large perimembranous ventricular septal defect was seen. Distal interatrial septum and crux of heart is not visualized suggesting atrio-ventricular septal defect (AVSD) (Fig.4a,4b). Mild left pleural effusion was seen without any evidence of fetal ascites. The fetal kidneys were normally visualized. No other significant fetal anomaly was noted. After obtaining informed written consent from the patient, fetal MRI was done with 3 T GE scanner, which confirmed the similar findings. Based on this conglomeration of findings, a final diagnosis of “pentalogy of Cantrell” was arrived at. After delivery physical examination of newborn revealed large supraumbilical anterior abdominal wall defect with evisceration of liver and heart (Fig.5). Ectopia cordis was associated with pericardial defect and an anterior diaphragmatic defect. Additionally, no obvious facial dysmorphic features were seen. All the extremities, head and spine appeared normal. Postnatal echocardiography of ectopic heart confirmed findings of prenatal ultrasound (Fig.4b). The baby was admitted to NICU and was put on ventilator. However, succumb to complications.
POC is a rare multiple malformative syndrome which combines five fetal malformations - midline supraumbilical abdominal wall defect (usually omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities (1). First described by James R Cantrell in 1958, the syndrome occurs sporadically, with variable degrees of expression. POC is a very rare condition with a reported prevalence of only 0.2–3.3:10,000 live births (2). The major hallmark of POC is an omphalocele associated with ectopia cordis. The syndrome occurs sporadically and etiology is unknown. Although the pathogenesis of the pentalogy has yet to be fully elucidated, Cantrell et al.  suggested that the syndrome originates from an interference in the embryonic development around the 14th and 18th day of gestation which corresponds to the time period for differentiation of somatic and splanchnic mesoderm (3). This results in defective formation of transverse septum of diaphragm and failure of the ventro-medial migration of the paired mesodermal folds of the upper abdomen. Consequently, intra-abdominal and intra-thoracic organs may eviscerate through the midline defects. All five cardinal defects of POC are not manifested in every case. Toyama classified the variation seen in the pentalogy of Cantrell into the following three strata on the basis of variable expression of anomalies (4)- Class 1: Complete diagnosis with all five congenital defects being present. Class 2: Probable diagnosis which has four defects present Class 3: Incomplete diagnosis, sternal defect with any combination of defects. The prognosis of babies born with POC is usually bad and it depends upon the complexity as well as severity of defects or anomalies present.(1) Our case was the complete/severe type of pentalogy of Cantrell with all five components present with atrio-ventricular septal defect as the intracardiac abnormality. Prenatal imaging is very important not only for timely diagnosis but also for prenatal counselling and postnatal treatment planning. Ectopia cordis and POC are easily diagnosable prenatally by using 2D or 3D ultrasound as early as in first trimester: however extreme variability in expression of syndrome ranging from subtle to severe, sometimes makes prenatal ultrasound diagnosis difficult. The sternal defect may be very subtle in few cases and only seen as absence or cleaving of the xiphoid which may go undetected. Severe manifestation of syndrome is seen as shortening or absence of the entire sternum (5). The abdominal defect can range from a wide rectus muscle diastasis to a large omphalocele. Early and precise prenatal diagnosis depends upon severity of defects and the sonographer’s expertise in fetal ultrasonography. Multiple intracardiac anomalies are usually associated with ectopia cordis. Most common associated anomaly is septal defect (interventricular and/or interatrial) which almost invariably present (
We emphasize that accurate and timely prenatal diagnosis using 2D and 3D ultrasound is essential for management of current and future pregnancy. Ultrasound should always be the primary mode of diagnosis in POC which helps in early diagnosis. Fetal Magnetic resonance imaging (MRI) can have a complementary role in selected cases.