Congènites

Congènites are conditions that are present at birth and result from abnormal development of the embryo or fetus. They encompass a wide range of disorders, including structural malformations of organs or limbs, chromosomal or genetic syndromes, and certain metabolic diseases. The term is used in Catalan-speaking medical literature to refer to congenital conditions in general.

Most congènites arise from a combination of genetic predisposition and environmental influences during pregnancy. Risk factors include parental age, maternal illnesses, infections, and exposure to teratogens such as certain medications, alcohol, or illicit drugs. Nutritional factors and metabolic conditions of the mother can also contribute. In many cases no single cause is identified.

Classification typically follows etiology or clinical presentation. Major categories include structural congenital anomalies (for example heart, neural tube, or limb defects), chromosomal abnormalities (such as trisomy 21), single-gene disorders, and metabolic diseases. Some congenital conditions are compatible with normal life with minimal treatment, while others require surgical intervention or long-term management.

Diagnosis relies on prenatal screening and imaging, diagnostic tests in pregnancy, and newborn examination. Postnatal management includes medical care, surgical correction when possible, developmental support, and regular follow-up. Early detection and access to appropriate care improve outcomes.

Prevention focuses on preconception and prenatal care, including folic acid supplementation to reduce neural tube defects, vaccination to prevent congenital infections, and avoidance of known teratogens. The overall prognosis varies widely by condition and severity and is influenced by healthcare access and interventions. Research in genetics, fetal medicine, and imaging continues to advance understanding and management of congènites.