Anencephaly in a term fetus

Abstract

Introduction: Anencephaly is a lethal neural tube defect that occurs due to defective anterior neural tube closure. Objective: To present a clinical case of anencephaly in a term fetus due to an insufficient prenatal diagnosis, which is very rare in clinical practice. Case presentation: Dead male fetus, weighing 3301 grams, grotesque in appearance, with absence of cranial bones, altered facial structure with prominent orbits and ear pavilions, and full palate. Conclusions: Anencephaly is a congenital malformation susceptible to early biochemical and imaging diagnosis. This is a malformation of undetermined multifactorial etiology, which is closely associated with multiple genetic factors and folate deficiency and their metabolic pathways.

Keywords

• anencefalia
• defectos del tubo neural
• malformaciones congénitas