Unraveling the mystery of a rare neural tube defect: Antenatal sonographic diagnosis with a brief literature review

Abstract

We present the case of a 42-year-old woman who underwent a level II ultrasound revealing rare and severe fetal anomalies consistent with craniorachischisis. These included absent calvarial bones, exposed cerebral tissue suggestive of acrania-exencephaly, and a spinal defect with diverging laminae and exposed spinal canal indicative of rachischisis. After thorough parental counseling, the mother opted for medical termination of pregnancy. Postnatal confirmation of prenatal sonographic findings underscored the accuracy of the antenatal sonographic diagnosis.