Jinekoloji - Obstetrik ve Neonatoloji Tıp Dergisi The Journal of Gynecology - Obstetrics and Neonatoloogy 105 Ensari A.T. ve ark. Olgu Sunumu Case Report Geliş tarihi / Received : 05.05.2014 Kabul tarihi / Accepted : 06.05.2014 Yazışma Adresi / Correspondence Address: Tuğba Altun Ensari Address: Emek Mahallesi 30. Sokak No: 34/4 Çankaya/ Ankara Telephone Number: 0532 643 47 78 - Fax: 0 312 322 01 84 Mail: ensaritugba@gmail.com ÖZET Cantrell Pentalojisi, insidansı 1/100.000 olarak bildirilen ve beş karakteristik bulgu ile kendini gösteren nadir bir konjenital anomalidir. Bulguları: ektopia kordis ve intrakardiyak anomaliler, sternum alt kısmında defekt, supraumblikal torakoabdominal duvar defekti, diafram ön kısmında defekt ve perikardiyumun diafragmatik kısmında defekt olarak sıralanabilir. Sendromun etyolojisi tam olarak belirlemiş değildir. Burada ikiz olarak başlayan gebelikte erken dönemde tanı koyduğumuz Cantrell Pentalojisi vakasını sunuyoruz. 34 yaşında diamniyotik di koryonik ikiz gebelik ön tanısıyla başvuran hastanın ultrasonografisinde fetuslardan birinde kardiyak aktivite saptanamamış ve diğer fetusun da ense saydamlığı (NT) 5.38 mm olarak ölçülmüştü. Bu fetüsün detaylı ultrasonografik incelemesi geniş omfalosel ve karın duvarı defektinin üst komşuluğunda regüler fetal kalp atımının fetal toraksın dışında izlendiğini ortaya koyması üzerine terminasyon kararı alındı. Terminasyon sonrası detaylı anatomik inceleme bulguları Cantrell Pentalojisini işaret etmekte idi. Bu nadir anomalinin ilk trimesterde erken tanısı ile ilgili az miktarda vaka takdimi mevcuttur. Bu denli ağır komponentler içeren anomalilerin erken prenatal tanısı perinatoloji pratiğinde önemli bir unsurdur. Anahtar Kelimeler: Cantrell pentaloji, anomali, prenatal tanı ABSTRACT Pentalogy of Cantrell is a rare congenital anomaly, with an incidence of 1/100.000 and has five characteristic findings: Ectopia cordis and intracardiac anomalies; defect of lower sternum; midline supraumbilical thoraco-abdominal wall defect; anterior diaphragmatic defect; and defect of diaphragmatic part of pericardium. The exact aetiology of the syndrome is still unknown. Here we report an early diagnosed pentalogy of Cantrell in a twin pregnancy. A 34-year-old patient with a diamniotic and dichorionic twin pregnancy in which one of the fetuses had no heart activity and other fetus had a nuchal translucency of 5.38 mm. Ultrasonographic examination revealed a large omphalocele and above the defective abdominal wall regular fetal heart rate was seen out of the fetal thorax. After termination of the pregnancy anatomic examination revealed findings meeting the criteria of Pentalogy of Cantrell. Since its early detection is found in a few cases we report a very early detection of a rare abnormality. Early detection of an entity with a poor prognosis is extremely important in the prenatal medicine practice. Key Words: Cantrell pentalogy, anomaly, prenatal diagnosis Pentalogy Of Cantrell In One Fetus Of A Twin Pregnancy Diagnosed At First Trimester Birinci trimesterde tanı alan bir ikiz gebeliğin tek eşinde Cantrell Pentalojisi Tuğba Altun Ensari, Dilek Uygur, Ayşe Seval Özgü Erdinç, Ayşe Kırbaş, Salim Erkaya, Nuri Danışman Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Ankara, Türkiye Introduction Anterior abdominal wall defects are of a large spectrum of fetal anomalies and usually appear as a part of complex syndromes. Isolated ectopia cordis is a rare congenital anomaly, in which the fetal heart is partially or completely located outside the thoracic cavity. The condition is extremely rare and its estimated prevalence is 5.5–7.9 per million live births (1). It is usually associated with pentalogy of Cantrell (2). Pentalogy of Cantrell is a rare congenital anomaly, first described by Cantrell et al in 1958, in 5 cases with five characteristic findings: Ectopia cordis and intracardiac anomalies; defect of lower sternum; midline supra umbilical thoraco-abdominal wall defect; anterior diaphragmatic defect; and defect of diaphragmatic part of pericardium that results in relation between pericardial cavity and peritoneum (3). Pentalogy of Cantrell is a rare condition with an incidence of 1/100.000 (4). There are cases with the complete syndrome and incomplete variants. Although the exact etiology is unknown, there are case reports of the entity associated with chromosomal abnormalities and other congenital defects in the literature (5). As the prognosis depends on the severity of the abnormality, and is usually determined as poor; antenatal diagnosis is crucial for the parental informing and the decision making about the continuing pregnancy. Here we report an early diagnosed pentalogy of Cantrell in a twin pregnancy.