Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature Birinci trimester anöploidi taramasında Cantrell pentalojisinin erken tanısı: olgu sunumu ve literatür taraması
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چکیده
Address for Correspondence: Mete Ahmet Ergenoğlu, Department of Gynecology and Obstetrics, Faculty of Medicine, Ege University, İzmir, Turkey Phone: +90 505 718 79 04 e.mail: [email protected] ©Copyright 2011 by the Turkish-German Gynecological Education and Research Foundation Available online at www.jtgga.org doi:10.5152/jtgga.2011.77 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 2dimensional (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. (J Turkish-German Gynecol Assoc 2012; 13: 145-8)
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Melek Çiçek, Kafkas Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Tel. 0506 8609381 Email. [email protected] Geliş Tarihi: 05.12.2011 • Kabul Tarihi: 16.12.2011 ABSTRACT Pentalogy of Cantrell is a rare congenital syndrome; described as the association of partial or complete ectopia cordis, a supraumbilical abdominal wall defect, congenital heart defects, defects ...
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