A Fatal Antenatal Diagnosis: Case Report of Anencephaly

Abstract

Anencephaly is a fatal neural tube defect characterized by the absence of the calvarium and major portions of the brain, resulting from failed closure of the cranial end of the neural tube during early embryogenesis. Despite declining prevalence rates in recent decades due to folic acid supplementation and food fortification programs, it remains a significant cause of perinatal mortality. We report a case of anencephaly diagnosed in a 21-year-old primigravida at 20 weeks of gestation. The pregnancy was the result of a second-degree consanguineous union, with no significant personal or familial history of congenital anomalies. Ultrasonographic evaluation revealed absence of the calvarial vault, disorganized brain tissue, and spinal anomalies, consistent with acrania–exencephaly sequence and cervical spina bifida. After appropriate counselling and informed consent, medical termination of pregnancy was carried out using mifepristone and misoprostol. Post-delivery, the foetal specimen was sent for karyotyping, which revealed a normal chromosomal profile. This case underscores the importance of early prenatal screening, particularly in populations with genetic risk factors. Anencephaly, being incompatible with life, necessitates timely diagnosis and sensitive, multidisciplinary counselling to aid parental decision-making. Public health measures, especially periconceptional folic acid supplementation, have proven highly effective in reducing the incidence of neural tube defects. Preventive strategies, including folic acid supplementation and genetic counselling, are vital in reducing the burden of anencephaly. Early detection through routine antenatal care allows for informed clinical decisions and better psychological support for affected families