Iniencephaly: Prenatal diagnosis with postmortem findings

• Published in: The journal of obstetrics and gynaecology research Vol. 33; no. 4; pp. 566 - 569
• Main Authors: Tugrul, Semih, Uludoğan, Mehmet, Pekin, Oya, Uslu, Hüsamettin, Çelik, Cem, Ersan, Fırat
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Publishing Asia 01-08-2007
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - pathology; Fatal Outcome; Female; Fetal Diseases - diagnostic imaging; Fetal Diseases - pathology; Humans; iniencephaly; Male; Neural Tube Defects - diagnostic imaging; Neural Tube Defects - pathology; Pregnancy; prenatal diagnosis; ultrasonography; Ultrasonography, Prenatal
• ISSN: 1341-8076; 1447-0756
• DOI: 10.1111/j.1447-0756.2007.00558.x

Iniencephaly is a rare but almost always lethal neural tube defect with the following cardinal features: occipital bone defect, partial or total absence of cervicothoracal vertebrae and fetal retroflexion. Iniencephaly is associated with malformations of the central nervous system, gastrointestinal and cardiovascular system. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. The present cases of iniencephaly were found to carry associated malformations such as atrioventricular septal defect and club foot. We present an iniencephaly prenatally diagnosed by sonography, in which therapeutic abortion was induced, with a review of the published literature.