Onderoğlu Lütfü, Baykal Cem, Tulunay Gökhan, Talim Beril, Kale Gülsev
Department of Obstetrics and Gynecology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2003 Oct-Dec;45(4):357-8.
A 23 year-old nulliparous woman was admitted to the obstetrics clinic in the 12th week of her pregnancy. Following the first trimester scanning, the fetus was diagnosed as having a large omphalocele and ectopia cordis. It was thought to be a thoracoabdominal wall defect and a possible case of Cantrell's pentalogy. Amniocentesis was performed and at the 16th week, the pregnancy was terminated because of karyotype revealing trisomy 21 and the serious structural defects. Autopsy demonstrated an ectopia cordis without pericardium and an abdominal wall defect with an omphalocele. Fetus had no diaphragma or sternum, and pulmonary and extremity anomalies were also present. With these findings, this case is suggested to be a variant of Cantrell's pentalogy.
一名23岁未生育的女性在怀孕第12周时入住产科诊所。孕早期超声扫描后，胎儿被诊断为患有巨大脐膨出和心脏异位。考虑为胸腹侧壁缺损，可能是坎特雷尔五联症病例。进行了羊水穿刺，在第16周时，由于核型显示21三体综合征以及严重的结构缺陷，终止了妊娠。尸检显示心脏异位且无心包，腹壁缺损伴脐膨出。胎儿无膈肌或胸骨，还存在肺部和肢体异常。基于这些发现，该病例被认为是坎特雷尔五联症的一种变体。
