Tag: MTHFR gene

Anencephaly is one of the most severe neural tube defects compatible with life until birth, characterized by the absence of a major portion of the brain, skull, and scalp. The image depicts an anencephalic newborn in profile view, illustrating the distinctive craniofacial features associated with this condition. Anencephaly results from failure of the rostral (head) end of the neural tube to close during embryonic development, typically between the 23rd and 26th day of gestation. This devastating congenital anomaly is universally fatal, with most affected newborns surviving only hours to days after birth. Understanding the characteristic physical manifestations, underlying pathophysiology, and available management options is essential for healthcare professionals involved in perinatal and neonatal care.

Anencephaly is a severe congenital birth defect characterized by the absence of major portions of the brain, skull, and scalp. The image shows an anterosuperior view of an anencephalic fetus, demonstrating the distinctive facial features and cranial abnormalities that define this condition. This devastating neural tube defect occurs during early embryonic development when the neural tube fails to close properly at the cranial end, resulting in the absence of significant portions of the brain, particularly the cerebrum and cerebellum. Despite these profound structural abnormalities, the brainstem and spinal cord often remain intact, allowing for basic physiological functions in affected fetuses.