Expanded carrier screening
Reproductive Genetics
2 min read
As genetic testing technology continues to advance, testing companies are offering new options for learning about our genomes. One such recent advance is in carrier testing for preconception and prenatal screening, known as “expanded carrier screening”. In the past, carrier screening has been recommended to people based on their ethnic background or some other reason why they might be at a higher risk of carrying a genetic mutation related to a disease or disorder, that their children could inherit. But expanded carrier screening allows you to be checked for a wide array of mutations. While this is good news for people who want to know potential health risks they could pass to their children, the availability of expanded carrier screening requires careful thought about what you would do with this information if a risk is identified. Expanded carrier testing can look for an increased risk of dozens of recessive genetic conditions, depending on the specific test you take. These conditions
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can include cystic fibrosis, Tay-Sachs and sickle cell disease, as well as Fragile X
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syndrome, the most common inherited form of intellectual disability and
autism, and spinal muscular atrophy, the most common cause of death from a recessive genetic disease in infants. The test is carried out with a blood test and sometimes your saliva. It can be done before you get pregnant or at any time during pregnancy. Inherited diseases are often linked with particular ethnic backgrounds, so if you and your partner are both from an ethnic group with a higher risk of a genetic disorder, your child would have a greater chance of inheriting it if you carry the gene for it. GenomeSmart can help you decide whether expanded carrier screening is right for you.
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