Many people become alarmed when they hear genetic carrier screening commonly because they do not understand what it is. Genetic carrier screening is a blood test performed on individuals planning to conceive a child or are already expecting a child. The results of this test tell your doctor if you carry a gene that may lead to your child having certain genetic conditions.
Below, we discuss some of the most commonly asked questions regarding genetic carrier screening.
“Genetic carrier screening is a
blood test performed on individuals
planning to conceive a child or are
already expecting a child.”
What is a Carrier?
For certain types of genetic conditions, called recessive disorders, an individual needs to inherit two copies of a genetic mutation in order to develop the disease. If an individual only inherits one copy, he or she is said to be a genetic carrier. If someone has one copy of a genetic mutation associated with a recessive disorder, the individual will not show signs and symptoms of the condition. However, he or she will “carry” this mutation and is at risk of passing it on to children.
How is Genetic Carrier Screening Performed?
Genetic carrier screening is performed by analyzing a blood sample from an individual who is thought to be at risk of being a carrier. If he or she is found to be a carrier, the partner will also be tested. If test results show that the individual is not a genetic carrier, there is no need to test the partner.
What Do the Results of a Carrier Screening Tell Me?
Genetic carrier screening is available for disorders in which both parents must be carriers for the child to inherit the condition. If only one partner is a genetic carrier, then there is no risk of your child inheriting a genetic disorder. If both partners are found to be genetic carriers of the same condition, then a genetic counselor will work with you to help you further understand the results of carrier screening and what they mean for your pregnancy.
When Should I Get Carrier Screening Performed?
Genetic carrier screening can be performed at any time, even during pregnancy. If this test is done before conception, you will have more time to understand the results and how it relates to your pregnancy plan. You will also have time to discuss alternative conception options and/or make any necessary arrangements for the birth of your child.
Who Should Get Genetic Carrier Screening?
The American College of Obstetricians and Gynecologists states that individuals who are at a high risk of being genetic carriers include those who:
- Have a genetic disorder
- Have a family history of a certain genetic disorder
- Have given birth to a child with a genetic disorder
- Belong to an ethnic group that is known to have a higher number of genetic carriers for specific genetic disorders than other ethnicities
If you are unsure whether you are at risk of being a genetic carrier of a genetic disorder, talk to your doctor or speak with a genetic counselor.
“The results of this test tell your
doctor if you carry a gene that may
lead to your child having certain
genetic conditions.”
Learning More
If you believe that you are at risk of being a genetic carrier and are planning a pregnancy, talk to your doctor or with a genetic counselor. These healthcare professionals can help you understand your risk of being a carrier and will discuss genetic carrier screening with you. A genetic counselor will also work with you to help you understand the results of genetic carrier screening, what they mean for you and your pregnancy, and if further testing might be necessary during your pregnancy.
Sources:
http://www.parents.com/getting-pregnant/genetics/tests/genetic-testing/
https://www.acog.org/~/media/For%20Patients/faq179.pdf
http://www.hopkinsmedicine.org/fertility/resources/genetic_screening.html
https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02142
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