What Is Carrier Screening?
Carrier screening is a type of genetic test used to find out whether an individual with no symptoms or signs carries a gene for a certain genetic disorder. This type of screening is typically done before pregnancy or in the early pregnancy process to determine if a couple is at risk of having offspring with a genetic disorder.
Majority of the individuals do not realize whether they are a carrier of
a hereditary genetic disorder until they have offspring with the disorder. Carrier
screening can also be done for people who have a family history of a genetic
disorder.
Carrier screening is important as numerous genetic disorders are
recessive, meaning that an individual must inherit two copies of the gene – one
from the father and one from the mother – to develop the disorder. If both
parents are carriers for the same genetic disorder, there is a 25% possibility
with each pregnancy that their offspring will inherit two mutated gene copies
and develop the disorder, and there is a 50% possibility of that offspring being
a carrier of the disorder.
Carrier screening can identify individuals who are carriers for a
particular genetic disorder, allowing them to make informed decisions about
their reproductive options.
How Carrier Screening Is Done.
Various genetic disorders can be screened through carrier screening,
such as cystic fibrosis, fragile X syndrome, sickle cell anemia, thalassemia,
and spinal muscular atrophy. The specific tests are done based on the person’s
ethnic background or family history.
Carrier screening can be done using different methods, such as blood
tests, saliva tests, and cheek swabs. In some cases, the genetic material of an
embryo can be evaluated before implantation through a process called
preimplantation genetic testing. This allows couples who are carriers for a
genetic disorder to select embryos that do not carry the mutated gene and
therefore have a lower risk of developing the disorder.
Once an individual has had a carrier screening test for a specific
disorder, that person does not require to be tested again for that disorder.
Carrier screening has two methods for screening disorders.
Targeted Carrier Screening
Targeted carrier screening, also known as ethnic-based carrier screening
is a test for specific genetic disorders that are more common in certain ethnic
or racial groups. Moreover, if an individual has a family history of a specific
disorder, screening for that disorder may be recommended, irrespective of their
ethnicity or race.
Expanded Carrier Screening
Expanded carrier screening tests for numerous genetic disorders,
irrespective of an individual's family history, ethnicity, or race. Expanded
carrier screening may be recommended for couples or individuals who want a more
comprehensive assessment of their risk of having offspring with a genetic
disorder.
Hence, it is important to note that carrier screening can offer valuable
information to couples or individuals who are planning to have children. So, it
is important to consult with a healthcare provider who is knowledgeable about
carrier screening and who can offer support and guidance during the process.
SOURCE: P&S Intelligence
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