Birth Defects and Congenital Anomalies | Treatments

What are the treatment options for birth defects?

Most birth defects cannot be cured. Treatment focuses on managing the symptoms. In some cases, however, there are ways to treat specific birth defects.

Gene therapy

Gene therapy replaces a gene that is either missing or defective. Severe combined immunodeficiency diseases (SCID) are a group of very rare diseases for which gene therapy has been used.

Enzyme replacement therapy

Enzymes are proteins for which genes code. So when a gene is mutated and does not produce the gene product, an enzyme is missing or defective. One way to treat this type of genetic defect is to replace the enzyme that the gene is not producing. An example of a condition for which enzyme replacement therapy has been developed is Gaucher disease.

Prenatal treatment 

Some birth defects can be diagnosed and treated before birth. Prenatal surgery, for instance, can treat babies with urinary tract blockages and rare lung tumors.