Most babies are born healthy. However, when a baby is born with a genetic condition, it often takes parents by surprise, as most have no family history of the condition. There often are no signs during the pregnancy that the baby was at risk.
What makes a condition genetic ?
Genetic conditions are caused by a change to a person’s genes. Genes are made of DNA and are found in each of our cells. Genes are the instructions that our bodies use to function. When there is a change in a gene, these instructions are altered, which could cause differences in how our body looks or functions. Sometimes these changes occur for the first time when a baby is conceived, while other times they are passed on to the baby from one or both parents.
Who is at risk for being a carrier ?
Carriers can be found in any ethnicity or age group. There are some conditions that are more frequent in certain populations or in more women than men, but in general everyone is at risk for being a carrier of a genetic condition. Having a relative with a genetic condition or other carriers in the family can also increase a person’s risk for being a carrier, so this information should be discussed with your healthcare provider prior to carrier screening to make sure the proper testing is being done to determine your risk.
What is carrier screening ?
Carrier screening is a way to determine if there is a risk for people to pass on certain genetic conditions to their children. They usually do not have the condition themselves, and often have no family history of the condition, but could pass on a change in their genes that could affect their children.
Every carrier screen tests for different conditions and for different changes in the genes related to each condition. The number of conditions included, the severity of these conditions, the number of DNA changes (also called mutations) looked at in each condition, and the accuracy of results are examples of what can vary between different carrier screens.
Some tests are only appropriate for certain ethnic groups or may be more appropriate for females than males, so it is important to discuss the details of the screen with your healthcare provider to pick the one that is right for you. Ideally this testing should be done prior to starting a family, but it can be done at any time. Carrier screening is usually performed on a saliva or blood sample.
What is the Pan-Ethnic Carrier Screen from CEN4GEN ?
Although no genetic test can find 100% of genetic changes, CEN4GEN offers an effective carrier screen that would cover the wide range of ethnic backgrounds. This screen goes beyond the minimum requirement by some physician groups of four to ten medical conditions which are common to people with specific ethnic backgrounds. CEN4GEN Pan-ethnic screen includes over 140 common medical conditions found across all ethnic groups. Screening for an increased number of conditions can give individuals thinking of having children greater reassurance.
Learn more about autosomal recessive inheritance in carrier screening
Learn more about X-linked inheritance in carrier screening