Carrier screening is a genetic test used to determine if a person is a carrier for a specific autosomal recessive inherited disorder.
This screening is most commonly used by couples who are considering pregnancy and want to determine beforehand whether the child would inherit genetic diseases.
The American Congress of Obstetricians and Gynecologists (ACOG) recommends screening for cystic fibrosis only for couples of European descent, and the American College of Medical Genetics and Genomics (ACMG) recommends screening for spinal muscular atrophy in addition.In this population, the current two carrier screenings detect only 55.2 disorders per 100,000 children; detect the current two carrier screenings detect only 55.2 disorders per 100,000 children; per the entire panel, it would be 159.2 disorders per 100,000 children.
For Ashkenazi Jews, among whom genetic disorders are particularly prevalent, ACOG recommends screening couples of childbearing potential for Tay-Sachs syndrome and familial dysautonomia, in addition to screening for the disease. The ACMG suggests a panel of ten genetic tests (e.g., Niemann-Pick type A disease, Gaucher disease, and Fanconi anemia type C).In this population, 392.2 per 100,000 children develop severe recessive disease.
Note: Being a carrier does not cause recessive disease. The double set of chromosomes usually protects against it.
