Carrier Screening Test

What is the Carrier Screening Test?


 

The Carrier Screening Test, also known as Carrier Genetic Test (CGT), is a vital genetic test for family planning. This test helps determine the risk of having a child with a genetic disease, and shows whether or not future parents are carriers of one or more recessive genetic mutations.

As a rule, carriers are healthy people. Yet, if both parents have a mutation in one and the same gene, their child may prove to be affected.

Anyone can be a carrier of one or more mutations unbeknownst to them, and the Carrier Screening Test is the best way to identify mutated genomes in a given person.

Why should we perform a Carrier Screening Test?


 

Usually, it is only after the birth of an affected child that the parents realize that they are serious genetic disorder carriers. Although genetic disorders are not curable, they certainly can be prevented. In this context, the Carrier Screening Test is the only clinically recognized test.

When is the Carrier Screening Test recommended?


 

We are all carriers of one or another genetic change, yet it is the Carrier Screening Test that enables us to learn whether or not these changes may affect our children. The test is recommended in the following cases:

  • Before attempting a natural pregnancy: Any woman who wants to conceive, to identify possible risks of transmitting disorders;
  • Before assisted treatment: It is recommended to identify risks of transmitting disorders and to define the best method of treatment in each individual case;
  • Before treatment with donor sperm and egg: To select a donor who is not a carrier of any disorder similar to those identified in either member of a given couple, to provide gametes, that is, sperm or eggs.

Why is the Carrier Screening Test necessary?


 

The Carrier Screening Test enables us to identify whether or not a person is a carrier of one or another mutation. The genetic disorders identified by the test are monogenic, meaning that this type of genetic disorders are, as a rule, unknown to future parents, that is, are recessive monogenic disorders.

In such cases, children may be affected by certain diseases, because the parents have not been aware of being carriers of one or another genetic disorder. The main goal behind conducting a Carrier Screening Test is to identify the type of mutation in a couple and to define ways of medical interference to prevent the transmission of this mutation to the child. Monogenic diseases are quite serious, posing a significant problem, in one form or another, for millions of people throughout the world. According to the World Health Organization, the share of monogenic diseases in the world is about 1%, a high indicator. Certain data reveal that 18% of the cases of pediatric hospitalization are due to monogenic genetic disorders. In developed countries, 20% of the deaths are ascribed to this type of disorder. This is why preventing this disorder is so important.

Although, monogenic genetic disorders are not curable, such screening tests enable us to identify which of the couple is a carrier of a disease, thereby preventing risks of transmitting this disorder to the child. The Carrier Screening Test uses the latest technology to provide comprehensive information about the exon in its entirety. Currently, we focus on studying 549 different genes responsible for more than 600 monogenic genetic disorders. As mentioned earlier, the Carrier Screening Test is important for preventing disorder transmission to children.

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