title: Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature.
abstract: Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination.
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Mete Ahmet
authors.initials: MA
authors.lastname: Ergenoğlu
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: A Özgür
authors.initials: AÖ
authors.lastname: Yeniel
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Nuri
authors.initials: N
authors.lastname: Peker
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Mert
authors.initials: M
authors.lastname: Kazandı
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Fuat
authors.initials: F
authors.lastname: Akercan
authors.affiliation: Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Sermet
authors.initials: S
authors.lastname: Sağol
keywords: 3D sonography; Cantrell pentalogy; Ectopia cordis; lower sternal defect; omphalocele