Anencephalias is a rare and severe congenital disorder characterized by the incomplete development or absence of the brain, typically occurring during early embryonic development. Specifically, it is a neural tube defect that affects the formation of the cranial vault and cerebral hemispheres, resulting in the underdevelopment or absence of major parts of the brain. This condition often leads to a very limited life expectancy and is incompatible with long-term survival.
Typically, babies born with anencephalias have undeveloped or missing cerebral hemispheres, which are responsible for complex cognitive functions, consciousness, and voluntary movements. As a result, affected infants are usually born without a forebrain, skull, scalp, or parts of the scalp, and their characteristic facial features may include an absent or poorly formed forehead, eyes, and nose. Despite lacking brain activity, some affected babies may possess some brainstem function that allows for rudimentary reflexes and basic life functions, such as breathing and heartbeat.
Anencephalias can have various causes including genetic factors, environmental factors, and nutritional deficiencies during pregnancy. However, the specific etiology of this condition is often unknown. Prenatal diagnostic tests like ultrasound can help detect anencephalias during pregnancy. Due to the absence of proper brain development, treatment options are extremely limited, with palliative care being the primary approach to ensure the comfort and well-being of affected infants. This condition is often considered incompatible with long-term survival, and most infants born with anencephalias do not survive beyond a few hours or days after birth.
