Congenital diseases are those that occur at birth or even before birth. The incidence of such diseases is about 2-5% in new-borns. The percentage of congenital diseases due to chromosomal defects is 60 to 70%. Congenital diseases can be categorized as chromosomal disorders, congenital anomalies, inherited metabolic disorders and rare diseases. These diseases are diagnosed during pregnancy and treatment is given. Only some disorders can be diagnosed early. Those with family history of congenital diseases or those who had consanguineous marriages may get children with congenital disorders. Genetic specialists will examine such patients by way of blood tests, chromosomal analysis and ultrasound, tomography and magnetic resonance tests. There are over ten thousand types of congenital diseases. Some of the congenital diseases like Down syndrome can be identified early during pregnancy. Some other diseases like mental retardation can also be caught early. While in the womb some children can have problems of the organs ranging from minor birth defects like cleft lip palate etc. Once the baby is born, the paediatrician will check for disorders and provide necessary treatment for the baby. Congenital diseases treatment includes medication and surgery to treat the disease at the earliest. Physical therapy may also be introduced to reduce the severity of the disease if it is not curable. As a preventive measure pregnant women should undergo tests to check if the foetus has any congenital defects and can take precautionary measures to prevent birth defects.
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