Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler.

Ayşe Figen Türkçapar,Nuri Danışman,Ayla Sargın Oruc,Aysegül Öksüzoglu

doi:10.1155/2015/179298

Abstract

We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy.

Highlights

Cantrell’s syndrome, first described in 1958 [1], is a rare syndrome of congenital defects with a prevalence of 1/65,000– 1/200,000 [2], involving a midline anterior ventral wall defect, a defect of anterior diaphragm. a cleft distal sternum, a defect of apical pericardium with communication into the peritoneum, and an intracardiac defect
Cantrell syndrome with ectopia cordis (EC) has been associated with a very high perinatal mortality rate characterizing the importance of its differentiation from other abdominal wall defects
The prenatal diagnosis of Cantrell syndrome in the first trimester was first described by Bennett et al using 2dimensional (2D) sonography and Doppler imaging [11]

Summary

Introduction

Cantrell’s syndrome, first described in 1958 [1], is a rare syndrome of congenital defects with a prevalence of 1/65,000– 1/200,000 [2], involving a midline anterior ventral wall defect, a defect of anterior diaphragm. a cleft distal sternum, a defect of apical pericardium with communication into the peritoneum, and an intracardiac defect. In 1972, Toyama proposed additional classification of the syndrome: class I, confirmed diagnosis with all five defects present; class II, probable diagnosis with four defects noted (including intracardiac and ventral abdominal wall abnormalities); and class III, incomplete expression when various combinations of defects are present, always including a sternal anomalies [3]. Cantrell syndrome with ectopia cordis (EC) has been associated with a very high perinatal mortality rate characterizing the importance of its differentiation from other abdominal wall defects. The differential diagnosis includes isolated thoracic ectopia cordis, amniotic band syndrome, and body stalk anomaly [5]. We report a rare case of Cantrell syndrome diagnosed in the first trimester and discuss the role of transvaginal ultrasonography and Doppler imaging in early gestational period

Case Presentation

Discussion