A prenatally diagnosed pentalogy of cantrell case with encephaloce: A rare variant Prenatal tanisi konmuş Cantrell Pentaloji̇si̇olgusu: Ensefaloseli̇n eşli̇k etti̇ǧi̇nadi̇r ḃir varyant


Güven M. A., CEYLANER G., CEYLANER S., Coşkun A., Bayazit H.

Turk Jinekoloji ve Obstetrik Dernegi Dergisi, vol.6, no.2, pp.123-127, 2009 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 2
  • Publication Date: 2009
  • Journal Name: Turk Jinekoloji ve Obstetrik Dernegi Dergisi
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.123-127
  • Keywords: Encephalocele, Evaluation, Pentalogy of Cantrell, Postmortem genetic, Pregnancy, Prenatal diagnosis, Ultrasonography
  • Lokman Hekim University Affiliated: No

Abstract

Aim: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect. Case: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting a case with encephalocele and omphalocele containing the heart anomaly with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings. Conclusion: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.