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Carrier screening is a genetic test that predicts whether a person is carrying a gene with a specific disease or disorder. A person inherits two genes, one from their mother and another from their father. If one gene is normal and another one has a disorder, then there will be no symptom of disease, and the person will just be a carrier. But, in case both the genes have disorder, the person is supposed to have the prevalent genetic disorder with symptoms, and this is known as recessive disorder.
Who is suggested for carrier screening?
Carrier screening is suggested to pregnant women to predict whether there is any risk of having recessive disorder in child after birth. If both the parents are carriers of genetic disorder genes, then there is a chance that offspring will have a recessive disorder, and here carrier screening comes into play. It predicts the possibilities of having a child with a recessive disorder.
Carrier screening test done for genetic disorder
Carrier screening test is suggested by the health physician to assess the common recessive conditions such as
- Cystic fibrosis (CF): It is the genetic disorder where a person faces respiratory and digestive problems.
- Spinal muscular atrophy (SMA): This neuromuscular disorder causes severe muscle weakness and affects the central and peripheral nervous systems.
- Fragile X syndrome: This type of genetic disorder causes developmental problems such as learning disabilities, mood instability, and impulsivity.
- Thalassemia: It is an inherited blood disorder where the human body is unable to produce hemoglobin and red blood cells.
- Tay-Sachs disease: This is an inherited metabolic disorder that is caused due to deficiency of the hexosaminidase-A enzyme and leads to neuronal damage.
Benefits of carrier screening
Carrier screening helps to make informed decisions before a person plans for family planning. If the test is done prior to the pregnancy, both the parents can come to know whether both of them are carriers or not. If both are carriers, then there is a 25% possibility that the child will have the recessive disorder and a 50% chance that the child will be a carrier. Based on the carrier screening test results, couple can think of IVF or any other options.
Carrier screening is a safe genetic test that is widely prescribed by health physician for pregnant women to predict whether they are carriers of any genetic disease that can be inherited by their offspring. The prior prediction through carrier screening helps the couple to take informed decisions and improve the quality of life. Medgenome provides trusted and easy carrier screening tests to help you make important health decisions with confidence.
Frequently Asked Questions
How is carrier screening done?
Carrier screening is done by taking a sample of blood, saliva, or tissue from body parts. If any of the partners is found carrier, then additional carrier screening is suggested for the other partner.
Who should have carrier screening?
Any pregnant woman is suggested to do carrier screening to predict whether they have any risk of recessive disorder in their child.
How accurate carrier screening result?
The carrier screening test gives accurate results in 99% of cases; only a small number of cases may have wrong results.
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