Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Iniencephaly is a rare and complex neural tube defect characterized by significant deformities in the cervical and thoracic spine, resulting in an extremely retroflexed head. Although environmental and genetic factors have been proposed as potential causes, the precise etiology and pathogenesis are not well understood. Prenatal diagnosis of iniencephaly through ultrasound is rare, but it can often be confirmed with a second-trimester ultrasound. Due to its almost universally fatal prognosis, pregnancy termination is often considered when this condition is diagnosed before the fetus reaches age of viability. Case Report: We present two cases of prenatal iniencephaly diagnosis, which, to the best of our knowledge, represent the second documented instances of iniencephaly diagnosis in Ethiopia, where the condition was first identified during Fetal Anatomic Scanning. Conclusion: Iniencephaly is a severe and devastating condition that demands early prenatal diagnosis and counseling. Timely anatomic scanning enables an accurate diagnosis and provides families with the essential information to make informed decisions. In this case, early diagnosis facilitated appropriate management, including pregnancy termination, and was followed by a smooth post-expulsion period.
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7116319084