From exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis

Abstract

Introduction: Neural tube defects (NTDs) are severe congenital anomalies arising from incomplete closure of the neural tube during early embryogenesis. Among cranial NTDs, exencephaly, acrania, and anencephaly represent a progressive developmental continuum, leading to major cerebral destruction and absence of cranial structures. Content: This narrative integrative review synthesizes embryological mechanisms, historical documentation, epidemiology, genetic and environmental risk factors, and advances in prenatal imaging for acrania, exencephaly, and anencephaly. Special focus is placed on the sequential ultrasonographic findings from the first to third trimester, highlighting the transformation across this continuum. Future research possibilities, including predictive artificial intelligence models, noninvasive genetic risk profiling, and experimental in utero therapies, are also discussed. Summary: Drawing on data from over 50 peer-reviewed studies, this review integrates knowledge across embryology, teratology, maternal-fetal medicine, genetics, imaging, and bioethics. It aims to guide fetal medicine specialists, radiologists, genetic counsellors, and researchers in understanding, diagnosing, and counselling for these cranial neural tube defects. Outlook: Future directions emphasize precision prevention strategies, including optimized maternal folate supplementation, enhanced prenatal screening, and potential genomic therapies for high-risk pregnancies.