Congenital defects

Congenital defects are structural or functional abnormalities that arise during embryofoetal development and are detected during pregnancy, at birth, or later in life. They are one of the main causes of infant mortality and childhood disability.

Defects can range from mild, such as minor abnormalities of the fingers, to severe, life-threatening conditions, such as severe heart defects or anencephaly (absence of the brain).

Aetiology and pathophysiology

The causes of congenital defects vary, and in many cases it is not possible to determine the exact cause. The pathogenesis is associated with a disruption of the normal processes of organ and tissue formation (organogenesis) during the embryonic and foetal periods.

Primary groups of causes:

• Genetic factors. These include chromosomal abnormalities (e.g., Down syndrome) and mutations in individual genes (e.g., cystic fibrosis).
• Environmental factors (teratogens). The impact of certain factors on the foetus, especially during critical periods of development. These include infections (e.g., rubella), certain medications (thalidomide, isotretinoin), alcohol, and radiation.
• Multifactorial inheritance. This is the most common cause, representing a combination of genetic predisposition and adverse external influences.

Clinical Significance

The clinical significance of malformations is enormous and depends on their type and severity. They can affect any organ system, leading to disorders ranging from cosmetic defects to profound disability and death.

Many defects can be diagnosed before birth through prenatal screening, which includes foetal ultrasound and genetic testing (e.g., amniocentesis). After birth, the diagnosis is made based on examination and instrumental examination data (cardiac ultrasound, CT, MRI).

The approach to treatment and management of patients is always individual. Effective surgical correction methods have been developed for many defects (e.g., cleft lip and palate, certain heart defects). Other conditions require lifelong medication and supportive therapy.