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Birth Defects and Genetics Program

The Birth Defects and Genetics Program serves as a resource for families and health care professionals to aid in the diagnosis and management of individuals with genetic conditions and birth defects.

The program identifies appropriate therapies, interventions and referrals specific to an individual’s condition and offers guidelines for screening and prevention of associated complications.

Genetics evaluation:

  • Educates families about the condition
  • Identifies appropriate referrals to other physicians and services
  • May identify possible complications prior to the onset of symptoms
  • May suggest targeted treatment plans for health and educational services
  • Explains inheritance patterns and risk to relatives
  • Identifies family members who may benefit from this information
  • Refers families to appropriate social services agencies
  • Provides information on community resources and support groups

The first step in a genetics evaluation is to obtain a detailed family history. After that, a medical geneticist will review the medical history, conduct a physical examination and arrange appropriate tests. After this information has been gathered, the medical geneticist and the genetic counselor will discuss the findings of the evaluation with the individual or family.

Who should have a genetics evaluation?

Individuals with:

  • developmental delays or intellectual disability
  • unusual physical features
  • unusual growth patterns
  • birth defects
  • autistic features
  • vision and hearing problems
  • chromosome problems or who are at risk for genetic conditions
  • multiple close relatives with cancer
  • early development of cancer

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