Congenital

Congenital refers to conditions that are present at birth or arise during fetal development. In medical use, it describes structural, functional, or metabolic abnormalities that are detected at or before birth. The severity ranges from minor variations to major defects that affect growth, development, or survival.

Causes are varied and include genetic factors, chromosomal abnormalities, environmental exposures, infections, and multifactorial influences. Genetic causes cover single-gene mutations and chromosomal disorders such as trisomies. Teratogens (for example certain medicines or alcohol), maternal illnesses, and nutritional deficiencies during pregnancy can also contribute.

Common categories include structural defects such as congenital heart disease, neural tube defects, cleft lip or palate, and limb anomalies; metabolic or endocrine disorders; and congenital infections like rubella or Zika that can impair development.

Diagnosis typically involves prenatal ultrasound, maternal serum screening, and genetic testing, with amniocentesis or chorionic villus sampling when indicated. After birth, evaluation may include imaging, metabolic testing, and multidisciplinary care. Treatment depends on the condition and may involve surgery, medications, or lifelong support.

Prevention focuses on folic acid supplementation before and during early pregnancy to prevent neural tube defects, vaccination, avoidance of teratogens, and management of maternal health conditions. Major congenital anomalies affect about 2–3% of live births worldwide, with wide variation by region and detection methods.

Congenital does not always imply genetic inheritance; a condition can be congenital due to non-heritable factors. The term contrasts with acquired conditions that develop after birth. Understanding often requires multidisciplinary evaluation and appropriate prenatal and postnatal care.