Congenital malformation is a structural defect in the body that develops before birth, resulting from disrupted formation of an organ or tissue during embryonic and fetal development. Such defects may involve absent, incomplete, or abnormally formed structures and range in severity from minor variations to life-thre…
Congenital malformation is a structural defect in the body that develops before birth, resulting from disrupted formation of an organ or tissue during embryonic and fetal development. Such defects may involve absent, incomplete, or abnormally formed structures and range in severity from minor variations to life-threatening anomalies. They originate from genetic and chromosomal causes, teratogenic exposures, vascular or mechanical disturbances within the developing fetus, or combinations of these factors acting during sensitive periods of organogenesis. In the thorax and abdomen, clinically important examples include congenital pulmonary airway malformation, diaphragmatic hernia, pulmonary sequestration, and cystic lesions, which can disturb lung development, impair circulation, or precipitate fetal hydrops and pleural effusion. The functional consequences depend on the structure involved, the degree of distortion, and any secondary effects on adjacent organs or amniotic fluid dynamics. Prenatal imaging enables detection, classification, and prognostication, distinguishing lesions that regress from those that progress and threaten fetal wellbeing. For selected malformations, intrauterine procedures such as thoraco-amniotic shunt placement can relieve compression and improve outcomes, while many are addressed through planned delivery and postnatal surgical correction. Multidisciplinary evaluation integrates diagnosis, monitoring of disease trajectory, and counseling about prognosis and treatment options. Study of congenital malformations advances understanding of developmental biology and informs strategies for screening, fetal therapy, and management of affected newborns.
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