Birth Defects

Birth defects, also known as congenital anomalies, are structural or functional abnormalities that occur during intrauterine life and can be identified prenatally, at birth, or sometimes only later in life. They result from a complex interplay of genetic, environmental, and sometimes unknown factors that affect fetal development. These defects range from minor to severe and can affect any part of the body, including the heart, brain, limbs, and internal organs. The severity of a birth defect can vary widely; some may have minimal impact on a person's quality of life, while others can cause significant disability or require medical or surgical intervention.

From a medical perspective, birth defects are classified into three main categories: structural, functional or developmental, and chromosomal. Structural defects involve a specific body part that is malformed or missing, such as spina bifida or cleft palate. Functional or developmental defects lead to disabilities in function or development, affecting areas such as cognition, as seen with Down syndrome, or metabolism, as in phenylketonuria (PKU). Management and outcome of these conditions depend on their nature and severity. Early detection and intervention, including surgery, medications, and physical or cognitive therapies, can improve the prognosis and quality of life for individuals with birth defects.