Genetic Diseases

“Carrier screening” refers to the use of specific tests to determine which members of a population are at increased risk for an inherited condition. Carrier screening may help identify couples who have an increased risk for familial genetic disorders and birth defects.

Screening for genetic diseases that may affect your family often depends on the ethnic or racial background of the couple, family medical history, and other associated conditions and environmental exposure. Understanding your “carrier status” for relevant genetic conditions can be helpful if you belong to an at-risk family or ethnic group. The American Congress of Obstetrics and Gynecology recommends universal screening of all women for cystic fibrosis and spinal muscular atrophy, as well as an assessment of risk for hemoglobinopathies, a form of anemia. “Expanded carrier screening” is offered at ARCH to test for your carrier status of hundreds of genetic conditions at an affordable price.

Additionally, if both parents are carriers for a genetic condition, preimplantation genetic testing can prevent the unborn child from being affected with the disease.

A family history of any of the following disorders should prompt genetic counseling, and when relevant, screening or testing for associated gene abnormalities or carrier status:

• Down syndrome
• Muscular Dystrophy
• Tay Sachs
• Chromosomal syndromes
• Neurofibromatosis
• Sickle Cell
• Seizures
• Unexplained still-births or neonatal deaths
• Recurrent miscarriage
• Huntington’s disease
• Cystic Fibrosis
• Hemophilia or other bleeding disorders
• Mental retardation
• Neural tube defects
• Familial dysautonomia

If you have any questions related to Genetic Diseases and your screening options, please contact the ARCH team to set up a consultation.