congenitale

Congenital conditions are disorders present at birth, arising during fetal development. They may involve structural malformations, functional abnormalities, or chromosomal anomalies. While some are isolated, others form part of a syndrome. In Italian, congenital is congenital e or cong enitale (congenitale).

Causes and classification: Etiology includes genetic abnormalities (chromosomal disorders, single-gene defects), environmental exposures (teratogens, infections), and multifactorial influences. Developmental timing concepts categorize anomalies as malformations (failure of formation), disruptions (destruction of tissue), deformations (abnormal shape from mechanical forces), and dysplasias (abnormal tissue organization).

Common examples include congenital heart defects, neural tube defects such as spina bifida, cleft lip and palate, limb deformities, and sensorineural hearing loss. Many conditions are detected at birth, while others become apparent later or as part of broader syndromes.

Diagnosis and screening: Prenatal screening (ultrasound and maternal tests) can detect many anomalies, with diagnostic procedures such as amniocentesis or chorionic villus sampling used when indicated. After birth, physical examination and targeted tests confirm the diagnosis. Newborn screening programs identify treatable metabolic or genetic disorders early.

Management and prognosis: Treatment is condition-specific and may involve surgery, medical therapy, rehabilitation, and ongoing multidisciplinary care. Prognosis varies with severity and associated anomalies. Genetic counseling is commonly offered to families to discuss recurrence risk and implications.

Prevention and public health: Preventive measures include folic acid supplementation before conception, avoidance of teratogens, vaccination, and proper management of maternal health conditions. Public health surveillance helps reduce the burden of congenital anomalies worldwide.