Birth defects

General or Other | Paediatrics | Birth defects (Disease)


Birth defects are abnormalities that are obvious at birth or detectable early in infancy. Also called congenital defects, they involve minor abnormalities, such as birthmark, and serious disorders like spina bifida.

Causes and Risk factors

The causes can be: chromosomal abnormalities, genetic defects, exposure to radiation, drugs taken during pregnancy and infections. In some cases, the cause of a defect is unknown. Defects that are due to chromosomal abnormalities include Down’s syndrome. Some defects, such as achondroplasia and albinism, are usually inherited from one or both parents. Certain illnesses, such as rubella and toxoplasmosis, can cause birth defects if they are contracted during pregnancy.

Irradiation of the embryo in early pregnancy can cause abnormalities. Very small doses of radiation increase the child’s risk of developing leukaemia later in life.

Certain drugs and chemicals called teratogen (thalidomide and isotretinoin used in severe acne treatment) can damage the fetus if the mother takes or is exposed to them during early pregnancy. Alcohol can affect the development of the brain and face.

Brain and spinal cord abnormalities, such as spina bifida and hydrocephalus, and congenital heart disorders result from interference with the development of particular groups of cells. Other common defects include cleft lip and palate. Also, certain infections during pregnancy, such as cytomegalovirus or a sexually transmitted infection may develop a birth defect.

Diagnosis and Treatment

Test during pregnancy are very important to identify the risk early as it can be. ...

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