Kongenital

Kongenital refers to conditions or traits that are present at birth. In medical usage, it describes anomalies that originate during fetal development and become evident at or before birth. Kongenital conditions can be structural, functional, or metabolic, and may occur as isolated findings or as part of a broader syndrome.

Etiology is diverse. Genetic factors include chromosomal abnormalities and single-gene disorders. Environmental influences such as exposure to teratogens, infections during pregnancy, and maternal health conditions (for example, diabetes) also contribute. Many congenital conditions arise from multifactorial causes, involving an interaction of genetic susceptibility and environmental factors.

Classification commonly distinguishes major congenital anomalies, which significantly affect health or require treatment, from minor anomalies with limited clinical impact. Other subcategories include congenital infections (often grouped under TORCH), chromosomal disorders, and congenital metabolic disorders. Conditions may be isolated or part of a syndrome affecting multiple organ systems.

Diagnosis and screening integrate prenatal and postnatal approaches. Prenatal detection uses ultrasound and targeted fetal testing, with confirmatory procedures such as amniocentesis or chorionic villus sampling. After birth, newborn examinations and screening programs identify metabolic or genetic problems. Genetic testing (karyotyping, microarray, or sequencing) can refine and confirm diagnoses.

Management depends on the specific condition and often requires a multidisciplinary approach. Treatment may include surgery, medication, rehabilitation, and long-term supportive care. Prognosis varies widely; some congenital conditions are compatible with normal life expectancy, while others require ongoing management and can be associated with significant morbidity. Public health measures—such as folic acid supplementation, avoidance of teratogens, vaccination, and accessible prenatal care—reduce the burden of congenital conditions.