Carrier screening is a method used to provide information about the probability of possible genetic disorders. It helps determine if a parent is a carrier for disorder and if he or she could possibly pass a specific disorder onto offspring. Carriers of genetic disorders have one gene that is considered normal and one that is mutated. Carriers of genetic disorders are typically very healthy individuals who never see any effect of the mutation. However, the mutation can be passed on to a child. Being a carrier depends on one's ethnicity and genetic makeup. This means some ethnic groups have a higher rate of genetic disorders in comparison to others.
When Should Carrier Screening Be Done?
Carrier screening should take place if there is a history of genetic disease in a family. Many couples planning to have children will undergo carrier screening in order to determine how risky the pregnancy could potentially be. Certain ethnic groups choose to be screened, as well, in order to make sure genetic diseases such will not be passed down.
How Are the Results of Carrier Testing Beneficial?
Carrier testing results are deemed positive or negative. Negative screenings indicate no mutations were found. This means the person being screened has a low probability of being a carrier but it does not eliminate the chance completely. Positive screenings typically mean a mutation is present. When this happens, it is suggested that one's partner undergo genetic screening, as well. If a couple both are determined to be carriers, there is an extremely high chance that their child will be born with a disease such as Tay Sachs disease or muclolipidosis. When a person finds out if he or she is a carrier of a genetic disease, they should notify family members so they can determine if they would like to be screened too.
What Are Some Genetic Diseases Detected by Carrier Screening?
Genetic diseases such as Tay Sachs disease can be helped through carrier screening even though there is no cure for this specific disease. Parents can become more informed of the background of the disorder and understand what precautions should be taken during the early infant months. It is a disease caused by a missing enzyme. This enzyme is commonly known as HEXA and it causes the brain and nervous system to deteriorate at a very fast rate. Those affected by this disorder appear to be in good health during the first few months of life. However, at ages 3-6 months, developmental skills start to disappear. Children with this disease usually have bouts with blindness, seizures, and loss of strength. Their lifespan is short and most die around the age of six. Children affected by this genetic disorder have to be kept comfortable as there is no particular cure.
Tay Sachs disease is most prevalent in the Ashkenazi Jewish population. This ethnic group has a 1 in every 3,600 chance of being affected, whereas most other groups only have a 1 in 360,000 chance. The Ashkenazi Jewish population also has a high carrier frequency of 1 in 27. Many other genetic disorders such as muclolipidosis, cystic fibrosis, and Usher Syndrome Type III can all be detected by carrier screening. Obtaining knowledge is one of the best ways to understand genetic diseases.
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By Robert Fogarty
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