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Carrier Screening for Genetic compatibility (Molecular)

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What is carrier screening?

Carrier screening denotes a genetic test used to detect the presence of carrier genes of a particular genetic disease. This test provides information about an individual’s risk of having a child with a genetic disease. This information is helpful when a couple is planning for pregnancy.

What is a recessive genetic disease?

Recessive genetic disease is caused by inheriting disease-causing mutation from both the parents. Carrier mutation will not cause any symptoms in the parents and thus can go unnoticed. However, every carrier couple has a risk of passing this mutation to the next generation and cause disease. If both parents are carriers, there is a 25% chance of having an affected child in each pregnancy.

What are the benefits of carrier screening?

Carrier screening allows the couple to plan their pregnancy via preimplantation genetic testing (PGT) and if necessary, can opt for using a sperm or egg donor. It also allows the couple to take extra care during pregnancy if needed. Carrier screening also allows the couple to plan the management and treatment of an affected child.

Who should consider carrier screening?

Carrier screening is advised for couple planning for a pregnancy, or who are currently pregnant and want to know the risk of passing a genetic condition to their child. Carrier screening is always advised to perform before conception because it gives more options to proceed to risk free pregnancy.

What is the procedure for carrier screening test?

In order to perform carrier screening, a pre-test genetic counselling is performed to make sure all aspects of carrier screening is understood by the person undergoing the test. A normal blood drawing procedure is performed to take peripheral blood of the subject. Carrier genetic screening is performed in genetic lab and the results were interpreted by professionals. Test report is shared to the concerned doctor.

What are the outcomes of a positive test result?

If both the parents are tested positive as carriers of a particular genetic disease, multiple options are available for planning a risk-free pregnancy. Pre-implantation genetic testing (PGT) is a very effective method for selecting healthy embryos and having a disease-free child.

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Carrier Screening for Genetic compatibility (Molecular) (1)


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