| American College of Medical Genetics criteria for inclusion of disorders in expanded prenatal carrier screening |
- Most carriers of the disorder would consider having prenatal diagnosis to facilitate making decisions about reproduction.
|
- Individuals undergoing screening understand whether symptoms of the disorder have adult or pediatric onset, and the personal and family implications of preconception/prenatal identification of adult-onset disorders.
|
- The causative gene(s), mutations, and mutation frequencies are known in the population being tested, so screen-negative individuals can be given meaningful residual risk estimates.
|
- The clinical association between the mutation(s) detected and the severity of the disorder has been validated.
|
- The laboratory performing the test is in compliance with the American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, including quality control and proficiency testing.
|
