Treatments for Birth Defects and Congenital Anomalies in Children

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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.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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